Details for: PLEC

Gene ID: 5339

Symbol: PLEC

Ensembl ID: ENSG00000178209

Description: plectin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 272.4609
    Cell Significance Index: -42.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 168.3072
    Cell Significance Index: -42.6900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 96.2250
    Cell Significance Index: -45.4300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 93.7214
    Cell Significance Index: -38.0800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 82.7201
    Cell Significance Index: -42.5500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 67.8815
    Cell Significance Index: -45.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 40.0789
    Cell Significance Index: -38.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.3240
    Cell Significance Index: -42.3200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.5761
    Cell Significance Index: -44.4100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.3048
    Cell Significance Index: -40.8700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.8974
    Cell Significance Index: -23.8500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.7475
    Cell Significance Index: -42.4100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.0768
    Cell Significance Index: 212.7800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.8561
    Cell Significance Index: 77.7400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 2.8105
    Cell Significance Index: 146.3900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.1339
    Cell Significance Index: 39.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.8714
    Cell Significance Index: 53.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.7206
    Cell Significance Index: 345.1600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.5616
    Cell Significance Index: 17.7400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.4553
    Cell Significance Index: 75.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.4489
    Cell Significance Index: 178.1600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.3419
    Cell Significance Index: 145.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.2904
    Cell Significance Index: 77.4700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1723
    Cell Significance Index: 211.3400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.8985
    Cell Significance Index: 397.2600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8456
    Cell Significance Index: 64.8900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.7808
    Cell Significance Index: 36.7000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.7788
    Cell Significance Index: 11.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.7349
    Cell Significance Index: 33.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5981
    Cell Significance Index: 118.6900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5850
    Cell Significance Index: 16.3500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5715
    Cell Significance Index: 205.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5287
    Cell Significance Index: 72.6000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5086
    Cell Significance Index: 351.7800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4833
    Cell Significance Index: 61.9600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4562
    Cell Significance Index: 45.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4447
    Cell Significance Index: 242.8900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4311
    Cell Significance Index: 389.2500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.4020
    Cell Significance Index: 14.1300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3925
    Cell Significance Index: 50.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3719
    Cell Significance Index: 17.3400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2144
    Cell Significance Index: 5.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1535
    Cell Significance Index: 208.7800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1166
    Cell Significance Index: 18.9700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1107
    Cell Significance Index: 21.0700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0894
    Cell Significance Index: 6.0100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0845
    Cell Significance Index: 130.0600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0785
    Cell Significance Index: 5.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0546
    Cell Significance Index: 102.7700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0505
    Cell Significance Index: 3.2600
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0464
    Cell Significance Index: 0.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0380
    Cell Significance Index: 1.6800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0301
    Cell Significance Index: 0.6400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0251
    Cell Significance Index: 46.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0087
    Cell Significance Index: -5.5300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0137
    Cell Significance Index: -0.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0202
    Cell Significance Index: -0.5400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0235
    Cell Significance Index: -10.6700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0275
    Cell Significance Index: -20.1600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0304
    Cell Significance Index: -1.1500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0328
    Cell Significance Index: -3.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0410
    Cell Significance Index: -31.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0618
    Cell Significance Index: -45.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0648
    Cell Significance Index: -9.4200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0705
    Cell Significance Index: -2.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0715
    Cell Significance Index: -44.6700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0847
    Cell Significance Index: -47.7800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1274
    Cell Significance Index: -15.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1517
    Cell Significance Index: -25.9100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1530
    Cell Significance Index: -44.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1572
    Cell Significance Index: -18.0100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2065
    Cell Significance Index: -4.7700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2104
    Cell Significance Index: -6.0100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2324
    Cell Significance Index: -48.9500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2463
    Cell Significance Index: -3.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2785
    Cell Significance Index: -32.4600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3162
    Cell Significance Index: -6.5600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3391
    Cell Significance Index: -35.3100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3902
    Cell Significance Index: -10.0300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4393
    Cell Significance Index: -22.2000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4618
    Cell Significance Index: -14.7900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.4680
    Cell Significance Index: -4.3100
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.4837
    Cell Significance Index: -6.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4863
    Cell Significance Index: -13.9400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4991
    Cell Significance Index: -39.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5156
    Cell Significance Index: -31.6900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5418
    Cell Significance Index: -34.1500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5526
    Cell Significance Index: -33.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.5728
    Cell Significance Index: -32.1400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.5767
    Cell Significance Index: -9.7000
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.6046
    Cell Significance Index: -8.4600
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.6609
    Cell Significance Index: -1.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6902
    Cell Significance Index: -36.2400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7505
    Cell Significance Index: -16.2600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7715
    Cell Significance Index: -11.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.7819
    Cell Significance Index: -23.0300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.7846
    Cell Significance Index: -32.1500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8142
    Cell Significance Index: -17.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.8283
    Cell Significance Index: -21.7800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8336
    Cell Significance Index: -26.5500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PLEC is a large protein (~400 kDa) composed of multiple domains, including the actin-binding domain, the actin-associated domain, and the cytoplasmic tail. Its unique structure allows it to interact with various partners, including cytoskeletal proteins, adhesion molecules, and signaling molecules. PLEC is highly expressed in multiple cell types, including cardiac muscle cells, lung endothelial cells, and astrocytes, and is involved in various cellular processes, including cell-cell adhesion, cytoskeleton organization, and signaling pathways. **Pathways and Functions:** PLEC is involved in numerous signaling pathways, including: 1. **Cytoskeleton organization:** PLEC interacts with actin filaments and myosin to regulate cytoskeleton organization and dynamics. 2. **Cell-cell adhesion:** PLEC interacts with adhesion molecules, such as cadherins and integrins, to regulate cell-cell adhesion and migration. 3. **Signaling pathways:** PLEC interacts with signaling molecules, such as caspases and MAPKs, to regulate cell survival, apoptosis, and differentiation. 4. **Cell migration and invasion:** PLEC is involved in regulating cell migration and invasion, particularly in cancer cells. 5. **Cellular response to mechanical stimuli:** PLEC is involved in regulating cellular responses to mechanical stimuli, such as shear stress and hydrostatic pressure. **Clinical Significance:** Dysregulation of PLEC has been implicated in numerous diseases, including: 1. **Cancer:** PLEC is often overexpressed in cancer cells, leading to enhanced cell migration, invasion, and metastasis. 2. **Cardiovascular disorders:** PLEC is involved in regulating cardiac muscle cell development and function, and its dysregulation is implicated in cardiovascular disorders, such as heart failure and cardiac arrhythmias. 3. **Immunological conditions:** PLEC is involved in regulating leukocyte migration and immune responses, and its dysregulation is implicated in immunological conditions, such as rheumatoid arthritis and multiple sclerosis. 4. **Neurological disorders:** PLEC is involved in regulating neuronal morphology and function, and its dysregulation is implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, PLEC is a multifaceted protein involved in various cellular processes, including cell-cell adhesion, cytoskeleton organization, and signaling pathways. Its dysregulation has been implicated in numerous diseases, highlighting the importance of PLEC in maintaining cellular homeostasis and regulating cellular responses to mechanical stimuli. Further research is needed to fully understand the role of PLEC in various diseases and to develop therapeutic strategies to target PLEC dysregulation.

Genular Protein ID: 1405188707

Symbol: PLEC_HUMAN

Name: Plectin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8633055

Title: Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).

PubMed ID: 8633055

DOI: 10.1073/pnas.93.9.4278

PubMed ID: 8698233

Title: Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

PubMed ID: 8698233

DOI: 10.1101/gad.10.14.1724

PubMed ID: 14672974

Title: Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation.

PubMed ID: 14672974

DOI: 10.1101/gr.1225204

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 12482924

Title: Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly.

PubMed ID: 12482924

DOI: 10.1242/jcs.00241

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18827015

Title: TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

PubMed ID: 18827015

DOI: 10.1242/jcs.029454

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 19367720

Title: Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment.

PubMed ID: 19367720

DOI: 10.1021/pr800500r

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21109228

Title: Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

PubMed ID: 21109228

DOI: 10.1016/j.ajhg.2010.10.017

PubMed ID: 19932097

Title: BPAG1 isoform-b: complex distribution pattern in striated and heart muscle and association with plectin and alpha-actinin.

PubMed ID: 19932097

DOI: 10.1016/j.yexcr.2009.11.010

PubMed ID: 20665883

Title: Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.

PubMed ID: 20665883

DOI: 10.1002/humu.21330

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21223964

Title: Novel interactions of ankyrins-G at the costameres: the muscle-specific Obscurin/Titin-Binding-related Domain (OTBD) binds plectin and filamin C.

PubMed ID: 21223964

DOI: 10.1016/j.yexcr.2011.01.002

PubMed ID: 21263134

Title: Myasthenic syndrome caused by plectinopathy.

PubMed ID: 21263134

DOI: 10.1212/wnl.0b013e31820882bd

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24940650

Title: Interaction of plectin with keratins 5 and 14: dependence on several plectin domains and keratin quaternary structure.

PubMed ID: 24940650

DOI: 10.1038/jid.2014.255

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 17397861

Title: The structure of a tandem pair of spectrin repeats of plectin reveals a modular organization of the plakin domain.

PubMed ID: 17397861

DOI: 10.1016/j.jmb.2007.02.090

PubMed ID: 12791251

Title: Structural and functional analysis of the actin binding domain of plectin suggests alternative mechanisms for binding to F-actin and integrin beta4.

PubMed ID: 12791251

DOI: 10.1016/s0969-2126(03)00090-x

PubMed ID: 8894687

Title: Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy.

PubMed ID: 8894687

DOI: 10.1093/hmg/5.10.1539

PubMed ID: 11159198

Title: A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

PubMed ID: 11159198

DOI: 10.1016/s0002-9440(10)64003-5

PubMed ID: 11851880

Title: A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.

PubMed ID: 11851880

DOI: 10.1046/j.0022-202x.2001.01591.x

PubMed ID: 14675180

Title: Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

PubMed ID: 14675180

DOI: 10.1111/j.1523-1747.2003.12639.x

PubMed ID: 25712130

Title: Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

PubMed ID: 25712130

DOI: 10.1093/hmg/ddv066

PubMed ID: 26477546

Title: Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

PubMed ID: 26477546

DOI: 10.1016/j.ajhg.2015.09.009

PubMed ID: 25556389

Title: Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

PubMed ID: 25556389

PubMed ID: 27234031

Title: Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

PubMed ID: 27234031

DOI: 10.1111/cge.12810

Sequence Information:

  • Length: 4684
  • Mass: 531791
  • Checksum: 04772E4F70A304C8
  • Sequence:
  • MVAGMLMPRD QLRAIYEVLF REGVMVAKKD RRPRSLHPHV PGVTNLQVMR AMASLRARGL 
    VRETFAWCHF YWYLTNEGIA HLRQYLHLPP EIVPASLQRV RRPVAMVMPA RRTPHVQAVQ 
    GPLGSPPKRG PLPTEEQRVY RRKELEEVSP ETPVVPATTQ RTLARPGPEP APATDERDRV 
    QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL SGDSLPREKG RMRFHKLQNV 
    QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH FQISDIQVSG QSEDMTAKEK 
    LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL LIDMNKVYRQ TNLENLDQAF 
    SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP RVPDVQDGVR ANELQLRWQE 
    YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK FKEMELPAKE ADKNRSKGIY 
    QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ LRSEFERLEC LQRIVTKLQM 
    EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD KADSMIRLLF NDVQTLKDGR 
    HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV AQVTLQSVQR RPELEDSTLR 
    YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ SIEEFRAKIE RARSDEGQLS 
    PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA AATKELMWLN EKEEEEVGFD 
    WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL REDHPARPTV ESFQAALQTQ 
    WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE ALRRKYSCDR SATVTRLEDL 
    LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM RGRLPLLAVC DYKQVEVTVH 
    KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ EAQEAVTRLE AQHQALVTLW 
    HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR QALHSLELHY QAFLRDSQDA 
    GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ RCISELKDIR LQLEACETRT 
    VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL SAEAEKVLAL PEPSPAAPTL 
    RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE VLRAHEEQLK EAQAVPATLP 
    ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL QQRHGERDVE VERWRERVAQ 
    LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL QDARRRQEQI QAMPLADSQA 
    VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE LQLVTYKAQL EPVASPAKKP 
    KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR MEEEERLAEQ QRAEERERLA 
    EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR REEAAVDAQQ QKRSIQEELQ 
    QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA TERQRGGAEG ELQALRARAE 
    EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA EAEAAREKQR ALQALEELRL 
    QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA SFAEKTAQLE RSLQEEHVAV 
    AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR LRLQAEEVAQ QKSLAQAEAE 
    KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG TAQQRLAAEQ ELIRLRAETE 
    QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE MEVLLASKAR AEEESRSTSE 
    KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED AARQRAEAER VLAEKLAAIG 
    EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ AAQHKADIEE RLAQLRKASD 
    SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE LELELGRIRS NAEDTLRSKE 
    QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ RKAALEEVER LKAKVEEARR 
    LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ ELQQTLQQEQ SVLDQLRGEA 
    EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE QAQARAQAQA AAEKLRKEAE 
    QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ VEQELTTLRL QLEETDHQKN 
    LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL KARIEAENRA LILRDKDNTQ 
    RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ QRALAEKMLK EKMQAVQEAT 
    RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG FQRTLEAERQ RQLEMSAEAE 
    RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA TQEKVTLVQT LEIQRQQSDH 
    DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ LLQETQALQQ SFLSEKDSLL 
    QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ ERQRLVASME EARRRQHEAE 
    EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE QHRAALAHSE EVTASQVAAT 
    KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV SAQRLQEAGI LSAEELQRLA QGHTTVDELA 
    RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP GTALILLEAQ AASGFLLDPV 
    RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG QQISLFQAMQ KGLIVREHGI 
    RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL ADPSDDTKGF FDPNTHENLT 
    YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD VFEKATVSAP FGKFQGKTVT 
    IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV EEQEQKGRLC FEGLRSLVPA 
    AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA NVIAGVWLEE AGQKLSIYNA 
    LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR AGLVGPEFHE KLLSAEKAVT 
    GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI VDPSKSHRVP LDVACARGCL 
    DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ LTGLSLLPLS EKAARARQEE 
    LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT AEQRQELLRQ FRTGKVTVEK 
    VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL SRAQFEQLKD GKTTVKDLSE 
    LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT TAALLLEAQA ATGFLVDPVR 
    NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS TISLFQAMQK GLVLRQHGIR 
    LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA DPSDDTKGFF DPNTHENLTY 
    RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET RRAFEETQID IPGGGSHGGS 
    TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII EIIEKTEIIR QQGLASYDYV 
    RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW CYLYGTGSVA GVYLPGSRQT 
    LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT VDEAVRKGLV GPELHDRLLS 
    AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ LATGGIVDPR LGFHLPLEVA 
    YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR CRRDDGTGQL LLPLSDARKL 
    TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK NLQKFLEGTS CIAGVFVDAT 
    KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL KLTVEEAVRM GIVGPEFKDK 
    LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL EAQIATGGII DPEESHRLPV 
    EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ LMERCITDPQ TGLCLLPLKE 
    KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI DHQTYLELSE QECEWEEITI 
    SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR AGTLSITEFA DMLSGNAGGF 
    RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI LDTETLEKVS ITEAMHRNLV 
    DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK IMVDRINLAQ KAFCGFEDPR 
    TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP GRVPLDEALQ RGTVDARTAQ 
    KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL LEAAAQSTKG YYSPYSVSGS 
    GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS SSGYGRRYAS GSSASLGGPE 
    SAVA

Genular Protein ID: 2214338963

Symbol: A0A8I5KUE3_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

Sequence Information:

  • Length: 4524
  • Mass: 513731
  • Checksum: 5E4109BD3D6CCF8F
  • Sequence:
  • MDRYSMEELI QLGQDERDRV QKKTFTKWVN KHLIKAQRHI SDLYEDLRDG HNLISLLEVL 
    SGDSLPREKG RMRFHKLQNV QIALDYLRHR QVKLVNIRND DIADGNPKLT LGLIWTIILH 
    FQISDIQVSG QSEDMTAKEK LLLWSQRMVE GYQGLRCDNF TSSWRDGRLF NAIIHRHKPL 
    LIDMNKVYRQ TNLENLDQAF SVAERDLGVT RLLDPEDVDV PQPDEKSIIT YVSSLYDAMP 
    RVPDVQDGVR ANELQLRWQE YRELVLLLLQ WMRHHTAAFE ERRFPSSFEE IEILWSQFLK 
    FKEMELPAKE ADKNRSKGIY QSLEGAVQAG QLKVPPGYHP LDVEKEWGKL HVAILEREKQ 
    LRSEFERLEC LQRIVTKLQM EAGLCEEQLN QADALLQSDV RLLAAGKVPQ RAGEVERDLD 
    KADSMIRLLF NDVQTLKDGR HPQGEQMYRR VYRLHERLVA IRTEYNLRLK AGVAAPATQV 
    AQVTLQSVQR RPELEDSTLR YLQDLLAWVE ENQHRVDGAE WGVDLPSVEA QLGSHRGLHQ 
    SIEEFRAKIE RARSDEGQLS PATRGAYRDC LGRLDLQYAK LLNSSKARLR SLESLHSFVA 
    AATKELMWLN EKEEEEVGFD WSDRNTNMTA KKESYSALMR ELELKEKKIK ELQNAGDRLL 
    REDHPARPTV ESFQAALQTQ WSWMLQLCCC IEAHLKENAA YFQFFSDVRE AEGQLQKLQE 
    ALRRKYSCDR SATVTRLEDL LQDAQDEKEQ LNEYKGHLSG LAKRAKAVVQ LKPRHPAHPM 
    RGRLPLLAVC DYKQVEVTVH KGDECQLVGP AQPSHWKVLS SSGSEAAVPS VCFLVPPPNQ 
    EAQEAVTRLE AQHQALVTLW HQLHVDMKSL LAWQSLRRDV QLIRSWSLAT FRTLKPEEQR 
    QALHSLELHY QAFLRDSQDA GGFGPEDRLM AEREYGSCSH HYQQLLQSLE QGAQEESRCQ 
    RCISELKDIR LQLEACETRT VHRLRLPLDK EPARECAQRI AEQQKAQAEV EGLGKGVARL 
    SAEAEKVLAL PEPSPAAPTL RSELELTLGK LEQVRSLSAI YLEKLKTISL VIRGTQGAEE 
    VLRAHEEQLK EAQAVPATLP ELEATKASLK KLRAQAEAQQ PTFDALRDEL RGAQEVGERL 
    QQRHGERDVE VERWRERVAQ LLERWQAVLA QTDVRQRELE QLGRQLRYYR ESADPLGAWL 
    QDARRRQEQI QAMPLADSQA VREQLRQEQA LLEEIERHGE KVEECQRFAK QYINAIKDYE 
    LQLVTYKAQL EPVASPAKKP KVQSGSESVI QEYVDLRTHY SELTTLTSQY IKFISETLRR 
    MEEEERLAEQ QRAEERERLA EVEAALEKQR QLAEAHAQAK AQAEREAKEL QQRMQEEVVR 
    REEAAVDAQQ QKRSIQEELQ QLRQSSEAEI QAKARQAEAA ERSRLRIEEE IRVVRLQLEA 
    TERQRGGAEG ELQALRARAE EAEAQKRQAQ EEAERLRRQV QDESQRKRQA EVELASRVKA 
    EAEAAREKQR ALQALEELRL QAEEAERRLR QAEVERARQV QVALETAQRS AEAELQSKRA 
    SFAEKTAQLE RSLQEEHVAV AQLREEAERR AQQQAEAERA REEAERELER WQLKANEALR 
    LRLQAEEVAQ QKSLAQAEAE KQKEEAEREA RRRGKAEEQA VRQRELAEQE LEKQRQLAEG 
    TAQQRLAAEQ ELIRLRAETE QGEQQRQLLE EELARLQREA AAATQKRQEL EAELAKVRAE 
    MEVLLASKAR AEEESRSTSE KSKQRLEAEA GRFRELAEEA ARLRALAEEA KRQRQLAEED 
    AARQRAEAER VLAEKLAAIG EATRLKTEAE IALKEKEAEN ERLRRLAEDE AFQRRRLEEQ 
    AAQHKADIEE RLAQLRKASD SELERQKGLV EDTLRQRRQV EEEILALKAS FEKAAAGKAE 
    LELELGRIRS NAEDTLRSKE QAELEAARQR QLAAEEERRR REAEERVQKS LAAEEEAARQ 
    RKAALEEVER LKAKVEEARR LRERAEQESA RQLQLAQEAA QKRLQAEEKA HAFAVQQKEQ 
    ELQQTLQQEQ SVLDQLRGEA EAARRAAEEA EEARVQAERE AAQSRRQVEE AERLKQSAEE 
    QAQARAQAQA AAEKLRKEAE QEAARRAQAE QAALRQKQAA DAEMEKHKKF AEQTLRQKAQ 
    VEQELTTLRL QLEETDHQKN LLDEELQRLK AEATEAARQR SQVEEELFSV RVQMEELSKL 
    KARIEAENRA LILRDKDNTQ RFLQEEAEKM KQVAEEAARL SVAAQEAARL RQLAEEDLAQ 
    QRALAEKMLK EKMQAVQEAT RLKAEAELLQ QQKELAQEQA RRLQEDKEQM AQQLAEETQG 
    FQRTLEAERQ RQLEMSAEAE RLKLRVAEMS RAQARAEEDA QRFRKQAEEI GEKLHRTELA 
    TQEKVTLVQT LEIQRQQSDH DAERLREAIA ELEREKEKLQ QEAKLLQLKS EEMQTVQQEQ 
    LLQETQALQQ SFLSEKDSLL QRERFIEQEK AKLEQLFQDE VAKAQQLREE QQRQQQQMEQ 
    ERQRLVASME EARRRQHEAE EGVRRKQEEL QQLEQQRRQQ EELLAEENQR LREQLQLLEE 
    QHRAALAHSE EVTASQVAAT KTLPNGRDAL DGPAAEAEPE HSFDGLRRKV SAQRLQEAGI 
    LSAEELQRLA QGHTTVDELA RREDVRHYLQ GRSSIAGLLL KATNEKLSVY AALQRQLLSP 
    GTALILLEAQ AASGFLLDPV RNRRLTVNEA VKEGVVGPEL HHKLLSAERA VTGYKDPYTG 
    QQISLFQAMQ KGLIVREHGI RLLEAQIATG GVIDPVHSHR VPVDVAYRRG YFDEEMNRVL 
    ADPSDDTKGF FDPNTHENLT YLQLLERCVE DPETGLCLLP LTDKAAKGGE LVYTDSEARD 
    VFEKATVSAP FGKFQGKTVT IWEIINSEYF TAEQRRDLLR QFRTGRITVE KIIKIIITVV 
    EEQEQKGRLC FEGLRSLVPA AELLESRVID RELYQQLQRG ERSVRDVAEV DTVRRALRGA 
    NVIAGVWLEE AGQKLSIYNA LKKDLLPSDM AVALLEAQAG TGHIIDPATS ARLTVDEAVR 
    AGLVGPEFHE KLLSAEKAVT GYRDPYTGQS VSLFQALKKG LIPREQGLRL LDAQLSTGGI 
    VDPSKSHRVP LDVACARGCL DEETSRALSA PRADAKAYSD PSTGEPATYG ELQQRCRPDQ 
    LTGLSLLPLS EKAARARQEE LYSELQARET FEKTPVEVPV GGFKGRTVTV WELISSEYFT 
    AEQRQELLRQ FRTGKVTVEK VIKILITIVE EVETLRQERL SFSGLRAPVP ASELLASGVL 
    SRAQFEQLKD GKTTVKDLSE LGSVRTLLQG SGCLAGIYLE DTKEKVSIYE AMRRGLLRAT 
    TAALLLEAQA ATGFLVDPVR NQRLYVHEAV KAGVVGPELH EQLLSAEKAV TGYRDPYSGS 
    TISLFQAMQK GLVLRQHGIR LLEAQIATGG IIDPVHSHRV PVDVAYQRGY FSEEMNRVLA 
    DPSDDTKGFF DPNTHENLTY RQLLERCVED PETGLRLLPL KGAEKAEVVE TTQVYTEEET 
    RRAFEETQID IPGGGSHGGS TMSLWEVMQS DLIPEEQRAQ LMADFQAGRV TKERMIIIII 
    EIIEKTEIIR QQGLASYDYV RRRLTAEDLF EARIISLETY NLLREGTRSL REALEAESAW 
    CYLYGTGSVA GVYLPGSRQT LSIYQALKKG LLSAEVARLL LEAQAATGFL LDPVKGERLT 
    VDEAVRKGLV GPELHDRLLS AERAVTGYRD PYTEQTISLF QAMKKELIPT EEALRLLDAQ 
    LATGGIVDPR LGFHLPLEVA YQRGYLNKDT HDQLSEPSEV RSYVDPSTDE RLSYTQLLRR 
    CRRDDGTGQL LLPLSDARKL TFRGLRKQIT MEELVRSQVM DEATALQLRE GLTSIEEVTK 
    NLQKFLEGTS CIAGVFVDAT KERLSVYQAM KKGIIRPGTA FELLEAQAAT GYVIDPIKGL 
    KLTVEEAVRM GIVGPEFKDK LLSAERAVTG YKDPYSGKLI SLFQAMKKGL ILKDHGIRLL 
    EAQIATGGII DPEESHRLPV EVAYKRGLFD EEMNEILTDP SDDTKGFFDP NTEENLTYLQ 
    LMERCITDPQ TGLCLLPLKE KKRERKTSSK SSVRKRRVVI VDPETGKEMS VYEAYRKGLI 
    DHQTYLELSE QECEWEEITI SSSDGVVKSM IIDRRSGRQY DIDDAIAKNL IDRSALDQYR 
    AGTLSITEFA DMLSGNAGGF RSRSSSVGSS SSYPISPAVS RTQLASWSDP TEETGPVAGI 
    LDTETLEKVS ITEAMHRNLV DNITGQRLLE AQACTGGIID PSTGERFPVT DAVNKGLVDK 
    IMVDRINLAQ KAFCGFEDPR TKTKMSAAQA LKKGWLYYEA GQRFLEVQYL TGGLIEPDTP 
    GRVPLDEALQ RGTVDARTAQ KLRDVGAYSK YLTCPKTKLK ISYKDALDRS MVEEGTGLRL 
    LEAAAQSTKG YYSPYSVSGS GSTAGSRTGS RTGSRAGSRR GSFDATGSGF SMTFSSSSYS 
    SSGYGRRYAS GSSASLGGPE SAVA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.