Details for: COL13A1

Gene ID: 1305

Symbol: COL13A1

Ensembl ID: ENSG00000197467

Description: collagen type XIII alpha 1 chain

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: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 11.4377
    Cell Significance Index: -5.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 5.4465
    Cell Significance Index: -5.2000
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 4.4385
    Cell Significance Index: 27.4600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.4390
    Cell Significance Index: 30.7600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.3392
    Cell Significance Index: 22.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3314
    Cell Significance Index: 28.8500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1585
    Cell Significance Index: 9.2500
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.1266
    Cell Significance Index: 10.2300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.0504
    Cell Significance Index: 36.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.9659
    Cell Significance Index: 16.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7558
    Cell Significance Index: 143.8300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.6995
    Cell Significance Index: 39.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.6875
    Cell Significance Index: 22.0200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.5697
    Cell Significance Index: 16.7800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5180
    Cell Significance Index: 51.2400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4586
    Cell Significance Index: 414.0900
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3423
    Cell Significance Index: 3.3000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2694
    Cell Significance Index: 43.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2622
    Cell Significance Index: 20.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2343
    Cell Significance Index: 25.4800
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.2268
    Cell Significance Index: 3.6600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1342
    Cell Significance Index: 9.2800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1213
    Cell Significance Index: 2.9600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1018
    Cell Significance Index: 2.1300
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.1015
    Cell Significance Index: 1.3000
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.0992
    Cell Significance Index: 1.4100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0918
    Cell Significance Index: 5.5100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0810
    Cell Significance Index: 56.0500
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0623
    Cell Significance Index: 0.8800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0528
    Cell Significance Index: 1.5200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0494
    Cell Significance Index: 9.9100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0424
    Cell Significance Index: 6.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0297
    Cell Significance Index: 0.8300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0196
    Cell Significance Index: 0.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0190
    Cell Significance Index: 8.4200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0051
    Cell Significance Index: 0.2300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0016
    Cell Significance Index: 0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0005
    Cell Significance Index: 1.0000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0004
    Cell Significance Index: 0.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0008
    Cell Significance Index: -1.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0011
    Cell Significance Index: -1.7700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0027
    Cell Significance Index: -3.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0048
    Cell Significance Index: -0.1200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0051
    Cell Significance Index: -1.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0053
    Cell Significance Index: -1.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0063
    Cell Significance Index: -3.9700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0068
    Cell Significance Index: -0.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0074
    Cell Significance Index: -5.6300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0075
    Cell Significance Index: -5.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0082
    Cell Significance Index: -4.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0083
    Cell Significance Index: -1.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0090
    Cell Significance Index: -4.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0098
    Cell Significance Index: -5.5100
  • Cell Name: osteoclast (CL0000092)
    Fold Change: -0.0137
    Cell Significance Index: -0.1400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0166
    Cell Significance Index: -4.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0214
    Cell Significance Index: -3.8600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0244
    Cell Significance Index: -4.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0264
    Cell Significance Index: -5.5700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0327
    Cell Significance Index: -3.7500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0332
    Cell Significance Index: -4.5600
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: -0.0361
    Cell Significance Index: -0.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0377
    Cell Significance Index: -3.8500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0385
    Cell Significance Index: -4.7300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0399
    Cell Significance Index: -0.8500
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: -0.0436
    Cell Significance Index: -0.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0445
    Cell Significance Index: -5.7600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0451
    Cell Significance Index: -5.2600
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: -0.0479
    Cell Significance Index: -0.5200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0486
    Cell Significance Index: -2.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0499
    Cell Significance Index: -5.8800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0518
    Cell Significance Index: -3.6600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0522
    Cell Significance Index: -5.4400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0664
    Cell Significance Index: -4.0800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0697
    Cell Significance Index: -1.6900
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.0703
    Cell Significance Index: -0.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0709
    Cell Significance Index: -4.7700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0718
    Cell Significance Index: -3.6300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0738
    Cell Significance Index: -1.5300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0745
    Cell Significance Index: -0.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0766
    Cell Significance Index: -3.5700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0782
    Cell Significance Index: -5.8300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0835
    Cell Significance Index: -4.3500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0898
    Cell Significance Index: -1.0200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0909
    Cell Significance Index: -4.0200
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0912
    Cell Significance Index: -0.6500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0994
    Cell Significance Index: -1.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1012
    Cell Significance Index: -4.7600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1023
    Cell Significance Index: -4.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1025
    Cell Significance Index: -5.3800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1030
    Cell Significance Index: -3.9000
  • Cell Name: chondroblast (CL0000058)
    Fold Change: -0.1056
    Cell Significance Index: -0.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1103
    Cell Significance Index: -5.7300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1282
    Cell Significance Index: -4.4900
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.1295
    Cell Significance Index: -1.4300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1303
    Cell Significance Index: -3.2500
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1310
    Cell Significance Index: -1.9600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1327
    Cell Significance Index: -2.0000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1329
    Cell Significance Index: -1.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1344
    Cell Significance Index: -4.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1409
    Cell Significance Index: -4.0400

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:** COL13A1 is a member of the collagen family, specifically a type XIII collagen, which is composed of three alpha chains. This gene is highly expressed in various cell types, including pulmonary interstitial fibroblasts, kidney proximal convoluted tubule epithelial cells, and retinal bipolar neurons. The COL13A1 protein is known to interact with other ECM components, such as laminin and fibronectin, and plays a crucial role in maintaining the integrity of the ECM. **Pathways and Functions:** COL13A1 is involved in multiple signaling pathways, including: 1. **Cell-cell adhesion**: COL13A1 interacts with integrins and other ECM components to facilitate cell-cell adhesion, which is essential for tissue development and maintenance. 2. **Cell differentiation**: COL13A1 regulates cell differentiation by modulating the activity of transcription factors and signaling pathways. 3. **Extracellular matrix organization**: COL13A1 contributes to ECM organization by interacting with other ECM components and regulating the deposition of ECM proteins. 4. **Collagen chain trimerization**: COL13A1 plays a crucial role in the trimerization of collagen chains, which is essential for the formation of collagen fibrils. **Clinical Significance:** Dysregulation of COL13A1 has been implicated in various diseases, including: 1. **Fibrosis**: COL13A1 deficiency has been linked to fibrotic diseases, such as pulmonary fibrosis and kidney fibrosis. 2. **Cancer**: COL13A1 overexpression has been observed in certain types of cancer, including breast and lung cancer. 3. **Neurological disorders**: COL13A1 has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, COL13A1 is a vital gene that plays a critical role in maintaining the integrity of the ECM and regulating cell-cell adhesion, differentiation, and organization. Understanding the functions and clinical significance of COL13A1 can provide valuable insights into the development of novel therapeutic strategies for various diseases. **Recommendations for Future Research:** 1. **Investigate COL13A1 expression in different disease models**: Further studies are needed to understand the expression patterns of COL13A1 in various disease models, including fibrosis, cancer, and neurological disorders. 2. **Elucidate the molecular mechanisms of COL13A1**: A deeper understanding of the molecular mechanisms underlying COL13A1 function is necessary to develop targeted therapies. 3. **Develop COL13A1-based therapeutic strategies**: Researchers should investigate the potential of COL13A1 as a therapeutic target for various diseases, including fibrosis and cancer. By advancing our understanding of COL13A1, we can uncover new avenues for treating various diseases and improving human health.

Genular Protein ID: 3697179409

Symbol: CODA1_HUMAN

Name: Collagen alpha-1(XIII) chain

UniProtKB Accession Codes:

Q5TAT6 A6NFR5 B9EGD2 E7EWL8 Q13992 Q13993 Q13994 Q13995 Q13996 Q5TAT4 Q5TAT5 Q7KZ33 Q7KZ49 Q99228 Q9NQ52

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 57 Ensembl 6 ExpressionAtlas 1 GO 17 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 11 RNAct 1 Reactome 4 RefSeq 6 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11013208

Title: A short sequence in the N-terminal region is required for the trimerization of type XIII collagen and is conserved in other collagenous transmembrane proteins.

PubMed ID: 11013208

DOI: 10.1093/emboj/19.19.5051

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

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: 1698771

Title: The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing.

PubMed ID: 1698771

DOI: 10.1016/s0021-9258(17)44849-6

PubMed ID: 3547403

Title: Partial characterization of a low molecular weight human collagen that undergoes alternative splicing.

PubMed ID: 3547403

DOI: 10.1073/pnas.84.4.940

PubMed ID: 2459707

Title: Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon.

PubMed ID: 2459707

DOI: 10.1073/pnas.85.20.7491

PubMed ID: 1447209

Title: Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants.

PubMed ID: 1447209

DOI: 10.1016/s0021-9258(18)35820-4

PubMed ID: 1447210

Title: Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines.

PubMed ID: 1447210

DOI: 10.1016/s0021-9258(18)35821-6

PubMed ID: 8246446

Title: Location and alternative splicing of type XIII collagen RNA in the early human placenta.

PubMed ID: 8246446

PubMed ID: 10865988

Title: Type XIII collagen is widely expressed in the adult and developing human eye and accentuated in the ciliary muscle, the optic nerve and the neural retina.

PubMed ID: 10865988

DOI: 10.1006/exer.1998.0826

PubMed ID: 11956183

Title: The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin.

PubMed ID: 11956183

DOI: 10.1074/jbc.m107583200

PubMed ID: 26626625

Title: Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, Encoding the atypical non-fibrillar collagen type XIII alpha1 chain.

PubMed ID: 26626625

DOI: 10.1016/j.ajhg.2015.10.017

Sequence Information:

  • Length: 717
  • Mass: 69950
  • Checksum: FD12CA80CC93540F
  • Sequence:
    • MVAERTHKAA ATGARGPGEL GAPGTVALVA ARAERGARLP SPGSCGLLTL ALCSLALSLL 
AHFRTAELQA RVLRLEAERG EQQMETAILG RVNQLLDEKW KLHSRRRREA PKTSPGCNCP 
PGPPGPTGRP GLPGDKGAIG MPGRVGSPGD AGLSIIGPRG PPGQPGTRGF PGFPGPIGLD 
GKPGHPGPKG DMGLTGPPGQ PGPQGQKGEK GQCGEYPHRE CLSSMPAALR SSQIIALKLL 
PLLNSVRLAP PPVIKRRTFQ GEQSQASIQG PPGPPGPPGP SGPLGHPGLP GPMGPPGLPG 
PPGPKGDPGI QGYHGRKGER GMPGMPGKHG AKGAPGIAVA GMKGEPGIPG TKGEKGAEGS 
PGLPGLLGQK GEKGDAGNSI GGGRGEPGPP GLPGPPGPKG EAGVDGQVGP PGQPGDKGER 
GAAGEQGPDG PKGSKGEPGK GEMVDYNGNI NEALQEIRTL ALMGPPGLPG QIGPPGAPGI 
PGQKGEIGLP GPPGHDGEKG PRGKPGDMGP PGPQGPPGKD GPPGVKGENG HPGSPGEKGE 
KGETGQAGSP GEKGEAGEKG NPGAEVPGLP GPEGPPGPPG LQGVPGPKGE AGLDGAKGEK 
GFQGEKGDRG PLGLPGASGL DGRPGPPGTP GPIGVPGPAG PKGERGSKGD PGMTGPTGAA 
GLPGLHGPPG DKGNRGERGK KGSRGPKGDK GDQGAPGLDA PCPLGEDGLP VQGCWNK

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.