Details for: DSP

Gene ID: 1832

Symbol: DSP

Ensembl ID: ENSG00000096696

Description: desmoplakin

Associated with

Cells (max top 100)

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

  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 4.61
    Marker Score: 2,385
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.32
    Marker Score: 25,942
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.23
    Marker Score: 3,398
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.02
    Marker Score: 22,483
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.9
    Marker Score: 24,989
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 2.83
    Marker Score: 958
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.75
    Marker Score: 8,628
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 2.51
    Marker Score: 4,449
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.51
    Marker Score: 1,975
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.47
    Marker Score: 922
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 2.45
    Marker Score: 15,639
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.45
    Marker Score: 1,637
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.45
    Marker Score: 84,747
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.41
    Marker Score: 8,929
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.36
    Marker Score: 3,040
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 2.32
    Marker Score: 3,807
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 2.31
    Marker Score: 7,925
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 2.3
    Marker Score: 11,291
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.26
    Marker Score: 3,334
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 2.25
    Marker Score: 1,535
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 2.23
    Marker Score: 2,527
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.22
    Marker Score: 2,454
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 2.2
    Marker Score: 10,568
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 2.19
    Marker Score: 1,024
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.19
    Marker Score: 8,603
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 2.18
    Marker Score: 1,818
  • Cell Name: stem cell (CL0000034)
    Fold Change: 2.13
    Marker Score: 5,049
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.09
    Marker Score: 3,468
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.07
    Marker Score: 2,147
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 2.06
    Marker Score: 17,932
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2
    Marker Score: 1,997
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2
    Marker Score: 1,639
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.99
    Marker Score: 495
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.98
    Marker Score: 5,002
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.97
    Marker Score: 793
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.95
    Marker Score: 8,149
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.95
    Marker Score: 4,445
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.94
    Marker Score: 1,676
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.92
    Marker Score: 4,056
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.91
    Marker Score: 1,115
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.91
    Marker Score: 7,363
  • Cell Name: epithelial cell of stratum germinativum of esophagus (CL1000447)
    Fold Change: 1.89
    Marker Score: 456
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.88
    Marker Score: 649
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.88
    Marker Score: 4,269
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.87
    Marker Score: 4,580
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.83
    Marker Score: 1,753
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.75
    Marker Score: 504
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.73
    Marker Score: 757
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.72
    Marker Score: 504
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.72
    Marker Score: 945
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.71
    Marker Score: 543
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.67
    Marker Score: 629
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.63
    Marker Score: 806
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.58
    Marker Score: 1,670
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.55
    Marker Score: 9,183
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.52
    Marker Score: 2,894
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.52
    Marker Score: 33,955
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.48
    Marker Score: 1,317
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.47
    Marker Score: 2,083
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167,672
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.45
    Marker Score: 1,010
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.43
    Marker Score: 2,619
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.39
    Marker Score: 584
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.36
    Marker Score: 835
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.35
    Marker Score: 1,437
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.35
    Marker Score: 904
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.35
    Marker Score: 859
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.34
    Marker Score: 314
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.34
    Marker Score: 301
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.29
    Marker Score: 1,508
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.28
    Marker Score: 4,540
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.27
    Marker Score: 1,950
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.25
    Marker Score: 2,614
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.24
    Marker Score: 19,364
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 1.19
    Marker Score: 618
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.18
    Marker Score: 3,164
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.18
    Marker Score: 560
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.12
    Marker Score: 789
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.11
    Marker Score: 992
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.1
    Marker Score: 392
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.1
    Marker Score: 264
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.09
    Marker Score: 351
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.08
    Marker Score: 355
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.08
    Marker Score: 1,094
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.07
    Marker Score: 4,622
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.06
    Marker Score: 1,001
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 1.06
    Marker Score: 739
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.05
    Marker Score: 206
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 1.05
    Marker Score: 286
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.04
    Marker Score: 293
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.04
    Marker Score: 815
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251,752
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.04
    Marker Score: 546
  • Cell Name: epithelial cell of exocrine pancreas (CL1001433)
    Fold Change: 1.03
    Marker Score: 583
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.03
    Marker Score: 250
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1
    Marker Score: 202
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,775
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.99
    Marker Score: 286
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.99
    Marker Score: 262

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** Desmoplakin is a 110-kDa protein that belongs to the plakin family of proteins. It is composed of two main domains: the cytoplasmic domain and the extracellular domain. The cytoplasmic domain interacts with intermediate filaments, while the extracellular domain binds to cadherins, forming a complex that anchors the cell membrane to the cytoskeleton. This unique structure allows desmoplakin to regulate cell-cell adhesion, shape, and signaling. **Pathways and Functions:** Desmoplakin is involved in various cellular processes, including: 1. **Adherens Junction Organization:** Desmoplakin regulates the formation and maintenance of adherens junctions, which are essential for cell-cell adhesion and tissue organization. 2. **Apoptosis:** Desmoplakin has been shown to interact with pro-apoptotic proteins, such as Bcl-2 family members, and regulate apoptosis. 3. **Cell Signaling:** Desmoplakin interacts with various signaling molecules, including Rho GTPases, to regulate cell signaling pathways. 4. **Cytoskeleton Organization:** Desmoplakin regulates the organization of intermediate filaments, which are essential for maintaining cell shape and structure. **Clinical Significance:** Desmoplakin is associated with various diseases, including: 1. **Dystrophic Epidermolysis Bullosa (DEB):** A genetic disorder characterized by skin blistering and fragility, caused by mutations in the DSP gene. 2. **Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC):** A heart condition characterized by abnormal heart rhythm, caused by mutations in the DSP gene. 3. **Neuropathy:** Desmoplakin has been linked to neuropathy, a condition characterized by nerve damage and degeneration. **Significance in Immune System:** Desmoplakin has been implicated in various immune-related processes, including: 1. **Innate Immunity:** Desmoplakin interacts with pattern recognition receptors, such as Toll-like receptors, to regulate innate immune responses. 2. **Neutrophil Degranulation:** Desmoplakin regulates the degranulation of neutrophils, which is essential for eliminating pathogens. **Conclusion:** In conclusion, desmoplakin is a multifunctional protein that plays a critical role in maintaining cell-cell adhesion, regulating apoptosis, and interacting with various signaling molecules. Its dysregulation has been implicated in various diseases, including DEB, ARVC, and neuropathy. Further research is needed to fully understand the mechanisms underlying desmoplakin's functions and its role in immune system regulation.

Genular Protein ID: 1418441008

Symbol: DESP_HUMAN

Name: Desmoplakin

UniProtKB Accession Codes:

P15924 B2RTT2 D7RX09 O75993 Q14189 Q9UHN4

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 CarbonylDB 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 6 EPD 1 Ensembl 3 EvolutionaryTrace 1 GO 34 Gene3D 5 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 13 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 11 OrthoDB 1 PANTHER 2 PDB 8 PDBsum 4 PIR 1 PRIDE 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 6 RefSeq 3 SAM 1 SASBDB 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1731325

Title: Molecular structure of the human desmoplakin I and II amino terminus.

PubMed ID: 1731325

DOI: 10.1073/pnas.89.2.544

PubMed ID: 20524011

Title: Identification and characterization of DSPIa, a novel isoform of human desmoplakin.

PubMed ID: 20524011

DOI: 10.1007/s00441-010-0989-1

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1689290

Title: Structure of the human desmoplakins. Implications for function in the desmosomal plaque.

PubMed ID: 1689290

DOI: 10.1016/s0021-9258(19)39844-8

PubMed ID: 2391353

Title:

PubMed ID: 2391353

DOI: 10.1016/s0021-9258(19)38608-9

PubMed ID: 10594734

Title: Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

PubMed ID: 10594734

DOI: 10.1046/j.1523-1747.1999.00783.x

PubMed ID: 9348293

Title: The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes.

PubMed ID: 9348293

DOI: 10.1083/jcb.139.3.773

PubMed ID: 9887343

Title: Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.

PubMed ID: 9887343

DOI: 10.1093/hmg/8.1.143

PubMed ID: 11063735

Title: Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

PubMed ID: 11063735

DOI: 10.1093/hmg/9.18.2761

PubMed ID: 10852826

Title: Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis.

PubMed ID: 10852826

DOI: 10.1242/jcs.113.13.2471

PubMed ID: 11790773

Title: Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling.

PubMed ID: 11790773

DOI: 10.1074/jbc.m108765200

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: 16628197

Title: Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin.

PubMed ID: 16628197

DOI: 10.1038/sj.jid.5700291

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: 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: 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: 21062920

Title: Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PubMed ID: 21062920

DOI: 10.1093/cvr/cvq353

PubMed ID: 20940358

Title: A new hypo/oligodontia syndrome: Carvajal/Naxos syndrome secondary to desmoplakin-dominant mutations.

PubMed ID: 20940358

DOI: 10.1177/0022034510383984

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: 22781308

Title: Molecular insights into arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 missense mutations.

PubMed ID: 22781308

DOI: 10.1161/circgenetics.111.961854

PubMed ID: 23186163

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

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 29034528

Title: Patients with a new variant of endemic pemphigus foliaceus have autoantibodies against arrector pili muscle, colocalizing with MYZAP, p0071, desmoplakins 1 and 2 and ARVCF.

PubMed ID: 29034528

DOI: 10.1111/ced.13214

PubMed ID: 30479852

Title: Subclinical oral involvement in patients with endemic pemphigus foliaceus.

PubMed ID: 30479852

DOI: 10.5826/dpc.0804a02

PubMed ID: 12101406

Title: Structures of two intermediate filament-binding fragments of desmoplakin reveal a unique repeat motif structure.

PubMed ID: 12101406

DOI: 10.1038/nsb818

PubMed ID: 21536047

Title: Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain.

PubMed ID: 21536047

DOI: 10.1016/j.jmb.2011.04.046

PubMed ID: 26808545

Title: Structure of the Intermediate Filament-Binding Region of Desmoplakin.

PubMed ID: 26808545

DOI: 10.1371/journal.pone.0147641

PubMed ID: 12373648

Title: Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy.

PubMed ID: 12373648

DOI: 10.1086/344208

PubMed ID: 11841538

Title: Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

PubMed ID: 11841538

DOI: 10.1046/j.0022-202x.2001.01664.x

PubMed ID: 12875771

Title: A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair.

PubMed ID: 12875771

DOI: 10.1016/s0735-1097(03)00628-4

PubMed ID: 16175511

Title: Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.

PubMed ID: 16175511

DOI: 10.1086/496901

PubMed ID: 15941723

Title: Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

PubMed ID: 15941723

DOI: 10.1093/eurheartj/ehi341

PubMed ID: 20031617

Title: Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PubMed ID: 20031617

DOI: 10.1161/circgenetics.109.858217

PubMed ID: 19863551

Title: Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PubMed ID: 19863551

DOI: 10.1111/j.1399-0004.2009.01282.x

PubMed ID: 22795705

Title: Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia.

PubMed ID: 22795705

DOI: 10.1016/j.ijcard.2012.06.068

Sequence Information:

  • Length: 2871
  • Mass: 331774
  • Checksum: 5770CC6B4F9F9F7B
  • Sequence:
    • MSCNGGSHPR INTLGRMIRA ESGPDLRYEV TSGGGGTSRM YYSRRGVITD QNSDGYCQTG 
TMSRHQNQNT IQELLQNCSD CLMRAELIVQ PELKYGDGIQ LTRSRELDEC FAQANDQMEI 
LDSLIREMRQ MGQPCDAYQK RLLQLQEQMR ALYKAISVPR VRRASSKGGG GYTCQSGSGW 
DEFTKHVTSE CLGWMRQQRA EMDMVAWGVD LASVEQHINS HRGIHNSIGD YRWQLDKIKA 
DLREKSAIYQ LEEEYENLLK ASFERMDHLR QLQNIIQATS REIMWINDCE EEELLYDWSD 
KNTNIAQKQE AFSIRMSQLE VKEKELNKLK QESDQLVLNQ HPASDKIEAY MDTLQTQWSW 
ILQITKCIDV HLKENAAYFQ FFEEAQSTEA YLKGLQDSIR KKYPCDKNMP LQHLLEQIKE 
LEKEREKILE YKRQVQNLVN KSKKIVQLKP RNPDYRSNKP IILRALCDYK QDQKIVHKGD 
ECILKDNNER SKWYVTGPGG VDMLVPSVGL IIPPPNPLAV DLSCKIEQYY EAILALWNQL 
YINMKSLVSW HYCMIDIEKI RAMTIAKLKT MRQEDYMKTI ADLELHYQEF IRNSQGSEMF 
GDDDKRKIQS QFTDAQKHYQ TLVIQLPGYP QHQTVTTTEI THHGTCQDVN HNKVIETNRE 
NDKQETWMLM ELQKIRRQIE HCEGRMTLKN LPLADQGSSH HITVKINELK SVQNDSQAIA 
EVLNQLKDML ANFRGSEKYC YLQNEVFGLF QKLENINGVT DGYLNSLCTV RALLQAILQT 
EDMLKVYEAR LTEEETVCLD LDKVEAYRCG LKKIKNDLNL KKSLLATMKT ELQKAQQIHS 
QTSQQYPLYD LDLGKFGEKV TQLTDRWQRI DKQIDFRLWD LEKQIKQLRN YRDNYQAFCK 
WLYDAKRRQD SLESMKFGDS NTVMRFLNEQ KNLHSEISGK RDKSEEVQKI AELCANSIKD 
YELQLASYTS GLETLLNIPI KRTMIQSPSG VILQEAADVH ARYIELLTRS GDYYRFLSEM 
LKSLEDLKLK NTKIEVLEEE LRLARDANSE NCNKNKFLDQ NLQKYQAECS QFKAKLASLE 
ELKRQAELDG KSAKQNLDKC YGQIKELNEK ITRLTYEIED EKRRRKSVED RFDQQKNDYD 
QLQKARQCEK ENLGWQKLES EKAIKEKEYE IERLRVLLQE EGTRKREYEN ELAKVRNHYN 
EEMSNLRNKY ETEINITKTT IKEISMQKED DSKNLRNQLD RLSRENRDLK DEIVRLNDSI 
LQATEQRRRA EENALQQKAC GSEIMQKKQH LEIELKQVMQ QRSEDNARHK QSLEEAAKTI 
QDKNKEIERL KAEFQEEAKR RWEYENELSK VRNNYDEEII SLKNQFETEI NITKTTIHQL 
TMQKEEDTSG YRAQIDNLTR ENRSLSEEIK RLKNTLTQTT ENLRRVEEDI QQQKATGSEV 
SQRKQQLEVE LRQVTQMRTE ESVRYKQSLD DAAKTIQDKN KEIERLKQLI DKETNDRKCL 
EDENARLQRV QYDLQKANSS ATETINKLKV QEQELTRLRI DYERVSQERT VKDQDITRFQ 
NSLKELQLQK QKVEEELNRL KRTASEDSCK RKKLEEELEG MRRSLKEQAI KITNLTQQLE 
QASIVKKRSE DDLRQQRDVL DGHLREKQRT QEELRRLSSE VEALRRQLLQ EQESVKQAHL 
RNEHFQKAIE DKSRSLNESK IEIERLQSLT ENLTKEHLML EEELRNLRLE YDDLRRGRSE 
ADSDKNATIL ELRSQLQISN NRTLELQGLI NDLQRERENL RQEIEKFQKQ ALEASNRIQE 
SKNQCTQVVQ ERESLLVKIK VLEQDKARLQ RLEDELNRAK STLEAETRVK QRLECEKQQI 
QNDLNQWKTQ YSRKEEAIRK IESEREKSER EKNSLRSEIE RLQAEIKRIE ERCRRKLEDS 
TRETQSQLET ERSRYQREID KLRQRPYGSH RETQTECEWT VDTSKLVFDG LRKKVTAMQL 
YECQLIDKTT LDKLLKGKKS VEEVASEIQP FLRGAGSIAG ASASPKEKYS LVEAKRKKLI 
SPESTVMLLE AQAATGGIID PHRNEKLTVD SAIARDLIDF DDRQQIYAAE KAITGFDDPF 
SGKTVSVSEA IKKNLIDRET GMRLLEAQIA SGGVVDPVNS VFLPKDVALA RGLIDRDLYR 
SLNDPRDSQK NFVDPVTKKK VSYVQLKERC RIEPHTGLLL LSVQKRSMSF QGIRQPVTVT 
ELVDSGILRP STVNELESGQ ISYDEVGERI KDFLQGSSCI AGIYNETTKQ KLGIYEAMKI 
GLVRPGTALE LLEAQAATGF IVDPVSNLRL PVEEAYKRGL VGIEFKEKLL SAERAVTGYN 
DPETGNIISL FQAMNKELIE KGHGIRLLEA QIATGGIIDP KESHRLPVDI AYKRGYFNEE 
LSEILSDPSD DTKGFFDPNT EENLTYLQLK ERCIKDEETG LCLLPLKEKK KQVQTSQKNT 
LRKRRVVIVD PETNKEMSVQ EAYKKGLIDY ETFKELCEQE CEWEEITITG SDGSTRVVLV 
DRKTGSQYDI QDAIDKGLVD RKFFDQYRSG SLSLTQFADM ISLKNGVGTS SSMGSGVSDD 
VFSSSRHESV SKISTISSVR NLTIRSSSFS DTLEESSPIA AIFDTENLEK ISITEGIERG 
IVDSITGQRL LEAQACTGGI IHPTTGQKLS LQDAVSQGVI DQDMATRLKP AQKAFIGFEG 
VKGKKKMSAA EAVKEKWLPY EAGQRFLEFQ YLTGGLVDPE VHGRISTEEA IRKGFIDGRA 
AQRLQDTSSY AKILTCPKTK LKISYKDAIN RSMVEDITGL RLLEAASVSS KGLPSPYNMS 
SAPGSRSGSR SGSRSGSRSG SRSGSRRGSF DATGNSSYSY SYSFSSSSIG H

Genular Protein ID: 176758002

Symbol: B4DKX6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DKX6

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 2 Gene3D 3 GenomeRNAi 1 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 3 SAM 2 SMART 1 SUPFAM 1

Sequence Information:

  • Length: 954
  • Mass: 112269
  • Checksum: 2462F79A57364219
  • Sequence:
    • MRQQRAEMDM VAWGVDLASV EQHINSHRGI HNSIGDYRWQ LDKIKADLRE KSAIYQLEEE 
YENLLKASFE RMDHLRQLQN IIQATSREIM WINDCEEEEL LYDWSDKNTN IAQKQEAFSI 
RMSQLEVKEK ELNKLKQESD QLVLNQHPAS DKIEAYMDTL QTQWSWILQI TKCIDVHLKE 
NAAYFQFFEE AQSTEAYLKG LQDSIRKKYP CDKNMPLQHL LEQIKELEKE REKILEYKRQ 
VQNLVNKSKK IVQLKPRNPD YRSNKPIILR ALCDYKQDQK IVHKGDECIL KDNNERSKWY 
VTGPGGVDML VPSVGLIIPP PNPLAVDLSC KIEQYYEAIL ALWNQLYINM KSLVSWHYCM 
IDIEKIRAMT IAKLKTMRQE DYMKTIADLE LHYQEFIRNS QGSEMFGDDD KRKIQSQFTD 
AQKHYQTLVI QLPGYPQHQT VTTTEITHHG TCQDVNHNKV IETNRENDKQ ETWMLMELQK 
IRRQIEHCEG RMTLKNLPLA DQGSSHHITV KINELKSVQN DSQAIAEVLN QLKDMLANFR 
GSEKYCYLQN EVFGLFQKLE NINGVTDGYL NSLCTVRALL QAILQTEDML KVYEARLTEE 
ETVCLDLDKV EAYRCGLKKI KNDLNLKKSL LATMKTELQK AQQIHSQTSQ QYPLYDLDLG 
KFGEKVTQLT DRWQRIDKQI DFRLWDLEKQ IKQLRNYRDN YQAFCKWLYD AKRRQDSLES 
MKFGDSNTVM RFLNEQKNLH SEISGKRDKS EEVQKIAELC ANSIKDYELQ LASYTSGLET 
LLNIPIKRTM IQSPSGVILQ EAADVHARYI ELLTRSGDYY RFLSEMLKSL EDLKLKNTKI 
EVLEEELRLA RDANSENCNK NKFLDQNLQK YQAECSQFKA KLASLEELKR QAELDGKSAK 
QNLDKCYGQI KELNEKITRL TYEIEDEKRR RKSVEDRFDQ QKNDYDQLQK ARQC

Genular Protein ID: 2803160571

Symbol: Q4LE79_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q4LE79

Database IDs:

ARBA 10 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 2 Gene3D 5 GenomeRNAi 1 IntAct 1 InterPro 7 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 4 RefSeq 1 SAM 2 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 2319
  • Mass: 265195
  • Checksum: A226A8D19C52AF27
  • Sequence:
    • RAATSRAFRT PARFPGRPPI LGPLRFLRAG PPRLCLGAEP LSRLPADMSC NGGSHPRINT 
LGRMIRAESG PDLRYEVTSG GGGTSRMYYS RRGVITDQNS DGYCQTGTMS RHQNQNTIQE 
LLQNCSDCLM RAELIVQPEL KYGDGIQLTR SRELDECFAQ ANDQMEILDS LIREMRQMGQ 
PCDAYQKRLL QLQEQMRALY KAISVPRVRR ASSKGGGGYT CQSGSGWDEF TKHVTSECLG 
WMRQQRAEMD MVAWGVDLAS VEQHINSHRG IHNSIGDYRW QLDKIKADLR EKSAIYQLEE 
EYENLLKASF ERMDHLRQLQ NIIQATSREI MWINDCEEEE LLYDWSDKNT NIAQKQEAFS 
IRMSQLEVKE KELNKLKQES DQLVLNQHPA SDKIEAYMDT LQTQWSWILQ ITKCIDVHLK 
ENAAYFQFFE EAQSTEAYLK GLQDSIRKKY PCDKNMPLQH LLEQIKELEK EREKILEYKR 
QVQNLVNKSK KIVQLKPRNP DYRSNKPIIL RALCDYKQDQ KIVHKGDECI LKDNNERSKW 
YVTGPGGVDM LVPSVGLIIP PPNPLAVDLS CKIEQYYEAI LALWNQLYIN MKSLVSWHYC 
MIDIEKIRAM TIAKLKTMRQ EDYMKTIADL ELHYQEFIRN SQGSEMFGDD DKRKIQSQFT 
DAQKHYQTLV IQLPGYPQHQ TVTTTEITHH GTCQDVNHNK VIETNRENDK QETWMLMELQ 
KIRRQIEHCE GRMTLKNLPL ADQGSSHHIT VKINELKSVQ NDSQAIAEVL NQLKDMLANF 
RGSEKYCYLQ NEVFGLFQKL ENINGVTDGY LNSLCTVRAL LQAILQTEDM LKVYEARLTE 
EETVCLDLDK VEAYRCGLKK IKNDLNLKKS LLATMKTELQ KAQQIHSQTS QQYPLYDLDL 
GKFGEKVTQL TDRWQRIDKQ IDFRLWDLEK QIKQLRNYRD NYQAFCKWLY DAKRRQDSLE 
SMKFGDSNTV MRFLNEQKNL HSEISGKRDK SEEVQKIAEL CANSIKDYEL QLASYTSGLE 
TLLNIPIKRT MIQSPSGVIL QEAADVHARY IELLTRSGDY YRFLSEMLKS LEDLKLKNTK 
IEVLEEELRL ARDANSENCN KNKFLDQNLQ KYQAECSQFK AKLASLEELK RQAELDGKSA 
KQNLDKCYGQ IKELNEKITR LTYEIEDEKR RRKSVEDRFD QQKNDYDQLQ KARQCEKENL 
GWQKLESEKA IKEKEYEIER LRVLLQEEGT RKREYENELA KASNRIQESK NQCTQVVQER 
ESLLVKIKVL EQDKARLQRL EDELNRAKST LEAETRVKQR LECEKQQIQN DLNQWKTQYS 
RKEEAIRKIE SEREKSEREK NSLRSEIERL QAEIKRIEER CRRKLEDSTR ETQSQLETER 
SRYQREIDKL RQRPYGSHRE TQTECEWTVD TSKLVFDGLR KKVTAMQLYE CQLIDKTTLD 
KLLKGKKSVE EVASEIQPFL RGAGSIAGAS ASPKEKYSLV EAKRKKLISP ESTVMLLEAQ 
AATGGIIDPH RNEKLTVDSA IARDLIDFDD RQQIYAAEKA ITGFDDPFSG KTVSVSEAIK 
KNLIDRETGM RLLEAQIASG GVVDPVNSVF LPKDVALARG LIDRDLYRSL NDPRDSQKNF 
VDPVTKKKVS YVQLKERCRI EPHTGLLLLS VQKRSMSFQG IRQPVTVTEL VDSGILRPST 
VNELESGQIS YDEVGERIKD FLQGSSCIAG IYNETTKQKL GIYEAMKIGL VRPGTALELL 
EAQAATGFIV DPVSNLRLPV EEAYKRGLVG IEFKEKLLSA ERAVTGYNDP ETGNIISLFQ 
AMNKELIEKG HGIRLLEAQI ATGGIIDPKE SHRLPVDIAY KRGYFNEELS EILSDPSDDT 
KGFFDPNTEE NLTYLQLKER CIKDEETGLC LLPLKEKKKQ VQTSQKNTLR KRRVVIVDPE 
TNKEMSVQEA YKKGLIDYET FKELCEQECE WEEITITGSD GSTRVVLVDR KTGSQYDIQD 
AIDKGLVDRK FFDQYRSGSL SLTQFADMIS LKNGVGTSSS MGSGVSDDVF SSSRHESVSK 
ISTISSVRNL TIRSSSFSDT LEESSPIAAI FDTENLEKIS ITEGIERGIV DSITGQRLLE 
AQACTGGIIH PTTGQKLSLQ DAVSQGVIDQ DMATRLKPAQ KAFIGFEGVK GKKKMSAAEA 
VKEKWLPYEA GQRFLEFQYL TGGLVDPEVH GRISTEEAIR KGFIDGRAAQ RLQDTSSYAK 
ILTCPKTKLK ISYKDAINRS MVEDITGLRL LEAASVSSKG LPSPYNMSSA PGSRSGSRSG 
SRSGSRSGSR SGSRRGSFDA TGNSSYSYSY SFSSSSIGH

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.