• Gene id: 1305

Gene Summary

• Gene Symbol: COL13A1   Gene   UCSC   Ensembl
• Aliases: CMS19, COLXIIIA1
• Gene name: collagen type XIII alpha 1 chain
• Alternate names: collagen alpha-1(XIII) chain, collagen, type XIII, alpha 1,
• Gene location: 10q22.1 (69801834: 69959143)     Exons: 43     NC_000010.11
• Gene summary(Entrez): 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 t
• OMIM: 608260

Protein Summary

• Protein general information: Q5TAT6  
  • Name: Collagen alpha 1(XIII) chain (COLXIIIA1)
  • Length: 717  
  • Mass: 69950
  • Tissue specificity: Widely expressed in both fetal and adult ocular tissues (at protein level). In the eye, expression is accentuated in the ciliary muscle, optic nerve and the neural retina. In early placenta, localized to fibroblastoid stromal cells of
• Sequence:

  MVAERTHKAAATGARGPGELGAPGTVALVAARAERGARLPSPGSCGLLTLALCSLALSLLAHFRTAELQARVLRL
  EAERGEQQMETAILGRVNQLLDEKWKLHSRRRREAPKTSPGCNCPPGPPGPTGRPGLPGDKGAIGMPGRVGSPGD
  AGLSIIGPRGPPGQPGTRGFPGFPGPIGLDGKPGHPGPKGDMGLTGPPGQPGPQGQKGEKGQCGEYPHRECLSSM
  PAALRSSQIIALKLLPLLNSVRLAPPPVIKRRTFQGEQSQASIQGPPGPPGPPGPSGPLGHPGLPGPMGPPGLPG
  PPGPKGDPGIQGYHGRKGERGMPGMPGKHGAKGAPGIAVAGMKGEPGIPGTKGEKGAEGSPGLPGLLGQKGEKGD
  AGNSIGGGRGEPGPPGLPGPPGPKGEAGVDGQVGPPGQPGDKGERGAAGEQGPDGPKGSKGEPGKGEMVDYNGNI
  NEALQEIRTLALMGPPGLPGQIGPPGAPGIPGQKGEIGLPGPPGHDGEKGPRGKPGDMGPPGPQGPPGKDGPPGV
  KGENGHPGSPGEKGEKGETGQAGSPGEKGEAGEKGNPGAEVPGLPGPEGPPGPPGLQGVPGPKGEAGLDGAKGEK
  GFQGEKGDRGPLGLPGASGLDGRPGPPGTPGPIGVPGPAGPKGERGSKGDPGMTGPTGAAGLPGLHGPPGDKGNR
  GERGKKGSRGPKGDKGDQGAPGLDAPCPLGEDGLPVQGCWNK

• Structural information:
  • Interpro: IPR008160  
  • STRING: ENSP00000381949
• Other Databases: GeneCards:  COL13A1  Malacards:  COL13A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0005911	cell-cell junction	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0001763	morphogenesis of a branching structure	IBA	biological process
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0008201	heparin binding	IBA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005600	collagen type XIII trimer	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0001763	morphogenesis of a branching structure	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0005911	cell-cell junction	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0008201	heparin binding	IDA	molecular function
GO:0005600	collagen type XIII trimer	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098609	cell-cell adhesion	IEP	biological process
GO:0007160	cell-matrix adhesion	IPI	biological process
GO:0001958	endochondral ossification	ISS	biological process
GO:0001763	morphogenesis of a branching structure	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04974	Protein digestion and absorption

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray