• Gene id: 1310

Gene Summary

• Gene Symbol: COL19A1   Gene   UCSC   Ensembl
• Aliases: COL9A1L, D6S228E
• Gene name: collagen type XIX alpha 1 chain
• Alternate names: collagen alpha-1(XIX) chain, a1 chain of type XIX collagen, collagen XIX, alpha-1 polypeptide, collagen alpha 1 (Y) chain, collagen, type XIX, alpha 1,
• Gene location: 6q13 (69866555: 70215062)     Exons: 55     NC_000006.12
• Gene summary(Entrez): This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in a
• OMIM: 606209

Protein Summary

• Protein general information: Q14993  
  • Name: Collagen alpha 1(XIX) chain (Collagen alpha 1(Y) chain)
  • Length: 1142  
  • Mass: 115221
  • Tissue specificity: Localized to vascular, neuronal, mesenchymal, and some epithelial basement membrane zones in umbilical cord. {ECO
• Sequence:

  MRLTGPWKLWLWMSIFLLPASTSVTVRDKTEESCPILRIEGHQLTYDNINKLEVSGFDLGDSFSLRRAFCESDKT
  CFKLGSALLIRDTIKIFPKGLPEEYSVAAMFRVRRNAKKERWFLWQVLNQQNIPQISIVVDGGKKVVEFMFQATE
  GDVLNYIFRNRELRPLFDRQWHKLGISIQSQVISLYMDCNLIARRQTDEKDTVDFHGRTVIATRASDGKPVDIEL
  HQLKIYCSANLIAQETCCEISDTKCPEQDGFGNIASSWVTAHASKMSSYLPAKQELKDQCQCIPNKGEAGLPGAP
  GSPGQKGHKGEPGENGLHGAPGFPGQKGEQGFEGSKGETGEKGEQGEKGDPALAGLNGENGLKGDLGPHGPPGPK
  GEKGDTGPPGPPALPGSLGIQGPQGPPGKEGQRGRRGKTGPPGKPGPPGPPGPPGIQGIHQTLGGYYNKDNKGND
  EHEAGGLKGDKGETGLPGFPGSVGPKGQKGEPGEPFTKGEKGDRGEPGVIGSQGVKGEPGDPGPPGLIGSPGLKG
  QQGSAGSMGPRGPPGDVGLPGEHGIPGKQGIKGEKGDPGGIIGPPGLPGPKGEAGPPGKSLPGEPGLDGNPGAPG
  PRGPKGERGLPGVHGSPGDIGPQGIGIPGRTGAQGPAGEPGIQGPRGLPGLPGTPGTPGNDGVPGRDGKPGLPGP
  PGDPIALPLLGDIGALLKNFCGNCQASVPGLKSNKGEEGGAGEPGKYDSMARKGDIGPRGPPGIPGREGPKGSKG
  ERGYPGIPGEKGDEGLQGIPGIPGAPGPTGPPGLMGRTGHPGPTGAKGEKGSDGPPGKPGPPGPPGIPFNERNGM
  SSLYKIKGGVNVPSYPGPPGPPGPKGDPGPVGEPGAMGLPGLEGFPGVKGDRGPAGPPGIAGMSGKPGAPGPPGV
  PGEPGERGPVGDIGFPGPEGPSGKPGINGKDGIPGAQGIMGKPGDRGPKGERGDQGIPGDRGSQGERGKPGLTGM
  KGAIGPMGPPGNKGSMGSPGHQGPPGSPGIPGIPADAVSFEEIKKYINQEVLRIFEERMAVFLSQLKLPAAMLAA
  QAYGRPGPPGKDGLPGPPGDPGPQGYRGQKGERGEPGIGLPGSPGLPGTSALGLPGSPGAPGPQGPPGPSGRCNP
  EDCLYPVSHAHQRTGGN

• Structural information:
  • Protein Domains: (50..23-)
    (/note="Laminin-G-like)
    (292..34-)
    (/note="Collagen-like-1)
    (350..39-)
    (/note="Collagen-like-2)
    (392..43-)
    (/note="Collagen-like-3)
    (474..51-)
    (/note="Collagen-like-4)
    (568..62-)
    (/note="Collagen-like-5";)
  • Interpro: IPR008160  IPR013320  IPR001791  
  • STRING: ENSP00000480474
• Other Databases: GeneCards:  COL19A1  Malacards:  COL19A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008201	heparin binding	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0001763	morphogenesis of a branching structure	IBA	biological process
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0005911	cell-cell junction	IBA	cellular component
GO:0007160	cell-matrix adhesion	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0098609	cell-cell adhesion	IBA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0005581	collagen trimer	TAS	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0030574	collagen catabolic process	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
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:0030198	extracellular matrix organization	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0031012	extracellular matrix	NAS	cellular component
GO:0005201	extracellular matrix structural constituent	NAS	molecular function
GO:0030198	extracellular matrix organization	NAS	biological process
GO:0005581	collagen trimer	NAS	cellular component
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0005201	extracellular matrix structural constituent	NAS	molecular function
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0007155	cell adhesion	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881