Gene COL13A1 - ENSG00000197467 | NCBI Gene ID: 1305

Details for: COL13A1

Gene ID: 1305

Symbol: COL13A1

Ensembl ID: ENSG00000197467

Description: collagen type XIII alpha 1 chain

Associated with

Collagen biosynthesis and modifying enzymes
(R-HSA-1650814)
Collagen chain trimerization
(R-HSA-8948216)
Collagen degradation
(R-HSA-1442490)
Collagen formation
(R-HSA-1474290)
Degradation of the extracellular matrix
(R-HSA-1474228)
Integrin cell surface interactions
(R-HSA-216083)
Cell-cell adhesion
(GO:0098609)
Cell-cell junction
(GO:0005911)
Cell-matrix adhesion
(GO:0007160)
Cell differentiation
(GO:0030154)
Collagen-containing extracellular matrix
(GO:0062023)
Collagen type xiii trimer
(GO:0005600)
Endochondral ossification
(GO:0001958)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular matrix organization
(GO:0030198)
Extracellular matrix structural constituent conferring tensile strength
(GO:0030020)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Heparin binding
(GO:0008201)
Morphogenesis of a branching structure
(GO:0001763)
Plasma membrane
(GO:0005886)
Postsynaptic membrane
(GO:0045211)
Protein binding
(GO:0005515)
Skeletal system development
(GO:0001501)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 5.01
Marker Score: 4009
Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
Fold Change: 4.04
Marker Score: 8360
Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: 1.8
Marker Score: 5332
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.61
Marker Score: 1167
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.56
Marker Score: 3163
Cell Name: mural cell (CL0008034)
Fold Change: 1.48
Marker Score: 169398
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 1.39
Marker Score: 11730
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 867
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.28
Marker Score: 20012
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 1.17
Marker Score: 2759
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 1.09
Marker Score: 932
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.04
Marker Score: 794
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 1.02
Marker Score: 321
Cell Name: mononuclear cell (CL0000842)
Fold Change: 1.02
Marker Score: 329
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71821
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48046
Cell Name: preosteoblast (CL0007010)
Fold Change: 0.98
Marker Score: 279
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.98
Marker Score: 507
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30408
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.97
Marker Score: 460
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2412
Cell Name: alveolar type 2 fibroblast cell (CL4028006)
Fold Change: 0.95
Marker Score: 526
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.94
Marker Score: 1078
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.94
Marker Score: 5344
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.93
Marker Score: 372
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.92
Marker Score: 381
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2740
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.9
Marker Score: 324
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.89
Marker Score: 441
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.89
Marker Score: 536
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5285
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.84
Marker Score: 388
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.81
Marker Score: 2876
Cell Name: osteoblast (CL0000062)
Fold Change: 0.8
Marker Score: 428
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.78
Marker Score: 372
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1257
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 700
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 395
Cell Name: mesenchymal cell (CL0008019)
Fold Change: 0.7
Marker Score: 1194
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 0.69
Marker Score: 288
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.68
Marker Score: 2862.5
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 0.66
Marker Score: 1385
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.65
Marker Score: 342
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.64
Marker Score: 202
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 0.6
Marker Score: 465
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.59
Marker Score: 389
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.57
Marker Score: 364
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.56
Marker Score: 444
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.55
Marker Score: 147
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 0.55
Marker Score: 1851
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.55
Marker Score: 230
Cell Name: mesodermal cell (CL0000222)
Fold Change: 0.52
Marker Score: 6826
Cell Name: kidney epithelial cell (CL0002518)
Fold Change: 0.51
Marker Score: 535
Cell Name: interstitial cell of Cajal (CL0002088)
Fold Change: 0.5
Marker Score: 172
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.46
Marker Score: 275
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 0.45
Marker Score: 112
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 0.45
Marker Score: 112
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.44
Marker Score: 197
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 0.43
Marker Score: 193
Cell Name: kidney cell (CL1000497)
Fold Change: 0.43
Marker Score: 287
Cell Name: meningeal macrophage (CL0000879)
Fold Change: 0.41
Marker Score: 115
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 0.41
Marker Score: 1066
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.37
Marker Score: 446
Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.37
Marker Score: 862
Cell Name: stellate neuron (CL0000122)
Fold Change: 0.36
Marker Score: 1948
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 0.36
Marker Score: 336
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.34
Marker Score: 322
Cell Name: CNS interneuron (CL0000402)
Fold Change: 0.33
Marker Score: 160
Cell Name: basophil (CL0000767)
Fold Change: 0.33
Marker Score: 158
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 0.33
Marker Score: 407.5
Cell Name: Unknown (CL0000003)
Fold Change: 0.32
Marker Score: 992
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 0.31
Marker Score: 787
Cell Name: skin fibroblast (CL0002620)
Fold Change: 0.31
Marker Score: 81
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.31
Marker Score: 180
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 0.31
Marker Score: 423
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 0.3
Marker Score: 300
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.3
Marker Score: 77
Cell Name: Unknown (CL0002371)
Fold Change: 0.29
Marker Score: 308
Cell Name: epithelial cell of glomerular capsule (CL1000450)
Fold Change: 0.29
Marker Score: 73
Cell Name: natural killer cell (CL0000623)
Fold Change: 0.28
Marker Score: 359
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.27
Marker Score: 180
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.26
Marker Score: 234
Cell Name: cell of skeletal muscle (CL0000188)
Fold Change: 0.26
Marker Score: 198
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.25
Marker Score: 1650
Cell Name: mast cell (CL0000097)
Fold Change: 0.25
Marker Score: 147
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.25
Marker Score: 5530
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.24
Marker Score: 462
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.23
Marker Score: 81
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.23
Marker Score: 73
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.23
Marker Score: 83
Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.22
Marker Score: 64
Cell Name: fibroblast (CL0000057)
Fold Change: 0.22
Marker Score: 212
Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.22
Marker Score: 74
Cell Name: Mueller cell (CL0000636)
Fold Change: 0.22
Marker Score: 301
Cell Name: stromal cell (CL0000499)
Fold Change: 0.21
Marker Score: 245.5
Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.21
Marker Score: 81
Cell Name: retinal pigment epithelial cell (CL0002586)
Fold Change: 0.2
Marker Score: 60
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.19
Marker Score: 1165
Cell Name: mature NK T cell (CL0000814)
Fold Change: 0.19
Marker Score: 89

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**Key characteristics:** * Col13a1 is a large protein with a molecular weight of approximately 130 kDa. * It is a secreted protein that is produced by various cell types. * It is a major component of the skin, cartilage, bones, and blood vessels. * It is also expressed in the eyes, nose, and throat. **Pathways and functions:** * Col13a1 is involved in cell-cell adhesion through its interaction with integrins on neighboring cells. * It is also involved in cell-matrix adhesion through its interaction with extracellular matrix proteins. * It plays a role in cell differentiation by promoting the formation of epithelial cells from germ cells. * It is involved in collagen biosynthesis and modifying enzymes by providing a template for the synthesis of collagen proteins. * It is involved in collagen degradation by facilitating the disassembly of collagen fibers. * It is involved in the formation of the ECM through the assembly of collagen fibers from monomers produced by collagen biosynthesis and modifying enzymes. * It is also involved in the remodeling of the ECM in response to injury or disease. **Clinical significance:** * Mutations in COL13A1 are associated with several human diseases, including osteogenesis imperfecta, osteoporosis, and kidney disease. * These diseases are characterized by defects in the ECM, which can lead to weakness, pain, and other symptoms. * Targeting COL13A1 has been explored as a therapeutic strategy for these diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Collagen alpha-1(XIII) chain

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:

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. For the full schema, download it here.

Details for: COL13A1

Associated with

Cells (max top 100)

Other Information

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

The DNA sequence and comparative analysis of human chromosome 10. PubMed ID: 15164054

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

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

Partial characterization of a low molecular weight human collagen that undergoes alternative splicing. PubMed ID: 3547403

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

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

Location and alternative splicing of type XIII collagen RNA in the early human placenta. PubMed ID: 8246446

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

The type XIII collagen ectodomain is a 150-nm rod and capable of binding to fibronectin, nidogen-2, perlecan, and heparin. PubMed ID: 11956183

Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, Encoding the atypical non-fibrillar collagen type XIII alpha1 chain. PubMed ID: 26626625