Details for: PLS1

Gene ID: 5357

Symbol: PLS1

Ensembl ID: ENSG00000120756

Description: plastin 1

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: 97.6243
    Cell Significance Index: -15.1900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 63.5538
    Cell Significance Index: -16.1200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 25.6772
    Cell Significance Index: -17.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.3379
    Cell Significance Index: -16.4500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.5700
    Cell Significance Index: -17.6000
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 5.2499
    Cell Significance Index: 39.8100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 3.3817
    Cell Significance Index: 153.2800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.9299
    Cell Significance Index: 84.4200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 2.7716
    Cell Significance Index: 27.9600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 2.6192
    Cell Significance Index: 284.8900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.5125
    Cell Significance Index: 34.2800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.2602
    Cell Significance Index: 117.4100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.2598
    Cell Significance Index: 20.8100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.8236
    Cell Significance Index: 30.0500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 1.6842
    Cell Significance Index: 42.1000
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 1.4136
    Cell Significance Index: 15.3200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.3940
    Cell Significance Index: 87.8600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.3835
    Cell Significance Index: 20.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.3512
    Cell Significance Index: 93.4400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.9767
    Cell Significance Index: 34.3200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8716
    Cell Significance Index: 157.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.8256
    Cell Significance Index: 81.6700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.8226
    Cell Significance Index: 17.5200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7637
    Cell Significance Index: 689.5600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6191
    Cell Significance Index: 122.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6082
    Cell Significance Index: 74.7800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5455
    Cell Significance Index: 17.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4573
    Cell Significance Index: 249.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4288
    Cell Significance Index: 86.0100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.4222
    Cell Significance Index: 25.9500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.3470
    Cell Significance Index: 50.4400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.3094
    Cell Significance Index: 7.4200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.3081
    Cell Significance Index: 8.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2724
    Cell Significance Index: 51.8400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.2708
    Cell Significance Index: 5.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2658
    Cell Significance Index: 43.2300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2010
    Cell Significance Index: 15.4300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1814
    Cell Significance Index: 8.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1608
    Cell Significance Index: 4.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1400
    Cell Significance Index: 23.9100
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.1389
    Cell Significance Index: 1.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1253
    Cell Significance Index: 44.9400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1252
    Cell Significance Index: 14.2900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1205
    Cell Significance Index: 13.8000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1092
    Cell Significance Index: 2.3400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0830
    Cell Significance Index: 57.3800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0534
    Cell Significance Index: 23.5900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0281
    Cell Significance Index: 0.4000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0190
    Cell Significance Index: 29.2600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0174
    Cell Significance Index: 0.1800
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.0107
    Cell Significance Index: 0.1100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0097
    Cell Significance Index: 17.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0063
    Cell Significance Index: 11.9400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0020
    Cell Significance Index: 1.4800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0014
    Cell Significance Index: 1.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0043
    Cell Significance Index: -2.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0058
    Cell Significance Index: -0.3300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0065
    Cell Significance Index: -4.0600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0065
    Cell Significance Index: -8.8700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0101
    Cell Significance Index: -0.1200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0141
    Cell Significance Index: -10.3600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0187
    Cell Significance Index: -10.5200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0220
    Cell Significance Index: -0.3700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0276
    Cell Significance Index: -5.8200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0315
    Cell Significance Index: -14.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0340
    Cell Significance Index: -9.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0350
    Cell Significance Index: -4.0800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0397
    Cell Significance Index: -0.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0525
    Cell Significance Index: -6.7300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0706
    Cell Significance Index: -1.2100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0800
    Cell Significance Index: -8.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0836
    Cell Significance Index: -5.9100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0942
    Cell Significance Index: -0.7200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0956
    Cell Significance Index: -0.3600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1066
    Cell Significance Index: -2.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1073
    Cell Significance Index: -14.7400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1087
    Cell Significance Index: -14.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1151
    Cell Significance Index: -7.7400
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1179
    Cell Significance Index: -1.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1281
    Cell Significance Index: -9.5500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1307
    Cell Significance Index: -15.4100
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1402
    Cell Significance Index: -3.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1551
    Cell Significance Index: -16.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1718
    Cell Significance Index: -4.6800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1819
    Cell Significance Index: -14.4100
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.1821
    Cell Significance Index: -1.1300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1909
    Cell Significance Index: -2.9000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2001
    Cell Significance Index: -6.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2049
    Cell Significance Index: -9.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2071
    Cell Significance Index: -9.1600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2177
    Cell Significance Index: -1.4800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2195
    Cell Significance Index: -13.4600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2300
    Cell Significance Index: -3.4000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2361
    Cell Significance Index: -6.0700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2379
    Cell Significance Index: -9.0100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2399
    Cell Significance Index: -7.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2488
    Cell Significance Index: -5.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2661
    Cell Significance Index: -13.9700
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2661
    Cell Significance Index: -3.7300

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:** Plastin 1 is a member of the plastin family, which is characterized by its ability to bind actin filaments and regulate cytoskeleton dynamics. The protein is composed of a pleckstrin homology domain, a pleckstrin repeat, and a protein-protein interaction domain. Plastin 1 is highly expressed in various cell types, including colon epithelial cells, enterocytes, and sensory receptor cells, where it plays a crucial role in maintaining cytoskeletal integrity and regulating cell signaling pathways. **Pathways and Functions:** Plastin 1 is involved in several signaling pathways, including: 1. **Actin filament organization**: Plastin 1 regulates the formation and dynamics of actin filaments, which is essential for maintaining cellular shape and structure. 2. **Sensory perception**: Plastin 1 is critical for the organization and function of sensory receptor cells, particularly in the auditory and vestibular systems. 3. **Cell signaling**: Plastin 1 interacts with various signaling molecules, including actin-binding proteins and kinases, to regulate cell growth, differentiation, and survival. 4. **Cytoskeleton network formation**: Plastin 1 is involved in the assembly and disassembly of actin filament networks, which is essential for maintaining cellular homeostasis. **Clinical Significance:** Dysregulation of Plastin 1 has been implicated in various diseases, including: 1. **Neurological disorders**: Mutations in the PLS1 gene have been associated with neurodegenerative diseases, such as spinocerebellar ataxia type 2. 2. **Immunological disorders**: Plastin 1 is involved in the regulation of immune cell function and has been implicated in autoimmune diseases, such as rheumatoid arthritis. 3. **Gastrointestinal disorders**: Plastin 1 is involved in the regulation of intestinal epithelial cell function and has been implicated in gastrointestinal disorders, such as inflammatory bowel disease. 4. **Sensory disorders**: Plastin 1 is critical for the organization and function of sensory receptor cells, and dysregulation of Plastin 1 has been implicated in sensory disorders, such as hearing loss and vestibular dysfunction. In conclusion, Plastin 1 is a multifunctional protein that plays a critical role in various cellular processes, including cytoskeleton organization, cell signaling, and sensory perception. Dysregulation of Plastin 1 has been implicated in various diseases, highlighting the importance of further research into the molecular mechanisms underlying Plastin 1 function and its role in human disease.

Genular Protein ID: 811309889

Symbol: PLSI_HUMAN

Name: Plastin-1

UniProtKB Accession Codes:

Q14651 A8K2Q1 D3DNG3 Q8NEG6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 5 CTD 1 ChEBI 10 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 Ensembl 3 ExpressionAtlas 1 GO 21 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 5 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 9 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8139549

Title: Identification of I-plastin, a human fimbrin isoform expressed in intestine and kidney.

PubMed ID: 8139549

DOI: 10.1128/mcb.14.4.2457-2467.1994

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 31432506

Title: Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.

PubMed ID: 31432506

DOI: 10.1111/cge.13626

PubMed ID: 30872814

Title: Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.

PubMed ID: 30872814

DOI: 10.1038/s41431-019-0372-y

PubMed ID: 31397523

Title: Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

PubMed ID: 31397523

DOI: 10.1002/humu.23891

Sequence Information:

  • Length: 629
  • Mass: 70253
  • Checksum: F904031933C2C323
  • Sequence:
    • MENSTTTISR EELEELQEAF NKIDIDNSGY VSDYELQDLF KEASLPLPGY KVREIVEKIL 
SVADSNKDGK ISFEEFVSLM QELKSKDISK TFRKIINKRE GITAIGGTST ISSEGTQHSY 
SEEEKVAFVN WINKALENDP DCKHLIPMNP NDDSLFKSLA DGILLCKMIN LSEPDTIDER 
AINKKKLTPF TISENLNLAL NSASAIGCTV VNIGASDLKE GKPHLVLGLL WQIIKVGLFA 
DIEISRNEAL IALLNEGEEL EELMKLSPEE LLLRWVNYHL TNAGWHTISN FSQDIKDSRA 
YFHLLNQIAP KGGEDGPAIA IDLSGINETN DLKRAGLMLQ EADKLGCKQF VTPADVVSGN 
PKLNLAFVAN LFNTYPCLHK PNNNDIDMNL LEGESKEERT FRNWMNSLGV NPYINHLYSD 
LADALVIFQL YEMIRVPVNW SHVNKPPYPA LGGNMKKIEN CNYAVELGKN KAKFSLVGIA 
GQDLNEGNST LTLALVWQLM RRYTLNVLSD LGEGEKVNDE IIIKWVNQTL KSANKKTSIS 
SFKDKSISTS LPVLDLIDAI APNAVRQEMI RRENLSDEDK LNNAKYAISV ARKIGARIYA 
LPDDLVEVKP KMVMTVFACL MGKGLNRIK

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.