COL13A1

Protein identityUniProt · HPA

UniProt accession

Q5TAT6

Gene

COL13A1

Ensembl

ENSG00000197467

Chromosome

10

Canonical length

717 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Quaternary structure

Homotrimer

OverviewNCBI Gene

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

717 residues, UniProt reviewed canonical sequence.

>Q5TAT6|COL13A1
     1  MVAERTHKAA ATGARGPGEL GAPGTVALVA ARAERGARLP SPGSCGLLTL ALCSLALSLL
    61  AHFRTAELQA RVLRLEAERG EQQMETAILG RVNQLLDEKW KLHSRRRREA PKTSPGCNCP
   121  PGPPGPTGRP GLPGDKGAIG MPGRVGSPGD AGLSIIGPRG PPGQPGTRGF PGFPGPIGLD
   181  GKPGHPGPKG DMGLTGPPGQ PGPQGQKGEK GQCGEYPHRE CLSSMPAALR SSQIIALKLL
   241  PLLNSVRLAP PPVIKRRTFQ GEQSQASIQG PPGPPGPPGP SGPLGHPGLP GPMGPPGLPG
   301  PPGPKGDPGI QGYHGRKGER GMPGMPGKHG AKGAPGIAVA GMKGEPGIPG TKGEKGAEGS
   361  PGLPGLLGQK GEKGDAGNSI GGGRGEPGPP GLPGPPGPKG EAGVDGQVGP PGQPGDKGER
   421  GAAGEQGPDG PKGSKGEPGK GEMVDYNGNI NEALQEIRTL ALMGPPGLPG QIGPPGAPGI
   481  PGQKGEIGLP GPPGHDGEKG PRGKPGDMGP PGPQGPPGKD GPPGVKGENG HPGSPGEKGE
   541  KGETGQAGSP GEKGEAGEKG NPGAEVPGLP GPEGPPGPPG LQGVPGPKGE AGLDGAKGEK
   601  GFQGEKGDRG PLGLPGASGL DGRPGPPGTP GPIGVPGPAG PKGERGSKGD PGMTGPTGAA
   661  GLPGLHGPPG DKGNRGERGK KGSRGPKGDK GDQGAPGLDA PCPLGEDGLP VQGCWNK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL13A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.69

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL13A1.

Disease | AllUniProt

Conditions COL13A1 is implicated in, by any mechanism.

• Myasthenic syndrome, congenital, 19 (CMS19) MIM:616720

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 849 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital myasthenic syndrome 19
• Pancreatic agenesis 2
• See cases
• Thyroid cancer, nonmedullary, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.75

gnomAD pLI

0

gnomAD missense Z

0.77

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• cell-cell adhesion
• cell-matrix adhesion
• endochondral ossification
• morphogenesis of a branching structure

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• heparin binding

Cellular components

• basement membrane
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region
• plasma membrane
• postsynaptic membrane
• collagen type XIII trimer

Protein domainsUniProt · Pfam · InterPro

• Collagen triple helix repeat
• Collagen and Collagen-like Structural Proteins
• Collagen triple helix repeat (20 copies)

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Collagen
• Congenital myasthenic syndrome
• Developmental protein
• Differentiation
• Disulfide bond
• Heparin-binding
• Membrane
• Osteogenesis
• Postsynaptic cell membrane
• Signal-anchor
• Synapse
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of COL13A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FN1
• NID2
• HSPG2