COL19A1 (collagen type XIX alpha 1 chain)

Gene

• Entrez ID: 1310
• Gene name: Collagen type XIX alpha 1 chain
• Gene symbol: COL19A1
• Synonyms (NCBI Gene): COL9A1L, D6S228E
• Chromosome: 6
• Chromosome location: 6q13
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT718519	hsa-miR-581	HITS-CLIP	19536157
MIRT718518	hsa-miR-3689a-5p	HITS-CLIP	19536157
MIRT718517	hsa-miR-3689b-5p	HITS-CLIP	19536157
MIRT718516	hsa-miR-3689e	HITS-CLIP	19536157
MIRT718515	hsa-miR-3689f	HITS-CLIP	19536157
MIRT718514	hsa-miR-3161	HITS-CLIP	19536157
MIRT718513	hsa-miR-8070	HITS-CLIP	19536157
MIRT718512	hsa-miR-578	HITS-CLIP	19536157
MIRT641161	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT616996	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT616995	hsa-miR-5193	HITS-CLIP	23824327
MIRT616994	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616993	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616992	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT616991	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT616990	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT616989	hsa-miR-3182	HITS-CLIP	23824327
MIRT616988	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT616987	hsa-miR-4279	HITS-CLIP	23824327
MIRT616986	hsa-miR-544a	HITS-CLIP	23824327
MIRT616996	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT616995	hsa-miR-5193	HITS-CLIP	23824327
MIRT616994	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616993	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616992	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT616991	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT616990	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT616989	hsa-miR-3182	HITS-CLIP	23824327
MIRT616988	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT616987	hsa-miR-4279	HITS-CLIP	23824327
MIRT616986	hsa-miR-544a	HITS-CLIP	23824327
MIRT538431	hsa-miR-5571-5p	PAR-CLIP	22012620
MIRT378580	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT401907	hsa-miR-199a-5p	PAR-CLIP	22012620
MIRT401908	hsa-miR-199b-5p	PAR-CLIP	22012620
MIRT538430	hsa-miR-496	PAR-CLIP	22012620
MIRT378579	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT378584	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT538429	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT538428	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT718519	hsa-miR-581	HITS-CLIP	19536157
MIRT718518	hsa-miR-3689a-5p	HITS-CLIP	19536157
MIRT718517	hsa-miR-3689b-5p	HITS-CLIP	19536157
MIRT718516	hsa-miR-3689e	HITS-CLIP	19536157
MIRT718515	hsa-miR-3689f	HITS-CLIP	19536157
MIRT718514	hsa-miR-3161	HITS-CLIP	19536157
MIRT718513	hsa-miR-8070	HITS-CLIP	19536157
MIRT718512	hsa-miR-578	HITS-CLIP	19536157
MIRT641161	hsa-miR-141-5p	HITS-CLIP	23824327
MIRT616996	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT616995	hsa-miR-5193	HITS-CLIP	23824327
MIRT616994	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616993	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616992	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT616991	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT616990	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT616989	hsa-miR-3182	HITS-CLIP	23824327
MIRT616988	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT616987	hsa-miR-4279	HITS-CLIP	23824327
MIRT616986	hsa-miR-544a	HITS-CLIP	23824327
MIRT616996	hsa-miR-330-3p	HITS-CLIP	23824327
MIRT616995	hsa-miR-5193	HITS-CLIP	23824327
MIRT616994	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616993	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT616992	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT616991	hsa-miR-20a-3p	HITS-CLIP	23824327
MIRT616990	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT616989	hsa-miR-3182	HITS-CLIP	23824327
MIRT616988	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT616987	hsa-miR-4279	HITS-CLIP	23824327
MIRT616986	hsa-miR-544a	HITS-CLIP	23824327
MIRT538431	hsa-miR-5571-5p	PAR-CLIP	22012620
MIRT378580	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT401907	hsa-miR-199a-5p	PAR-CLIP	22012620
MIRT401908	hsa-miR-199b-5p	PAR-CLIP	22012620
MIRT538430	hsa-miR-496	PAR-CLIP	22012620
MIRT378579	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT378584	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT538429	hsa-miR-513c-5p	PAR-CLIP	22012620
MIRT538428	hsa-miR-514b-5p	PAR-CLIP	22012620
MIRT902612	hsa-let-7a	CLIP-seq
MIRT902613	hsa-let-7b	CLIP-seq
MIRT902614	hsa-let-7c	CLIP-seq
MIRT902615	hsa-let-7d	CLIP-seq
MIRT902616	hsa-let-7e	CLIP-seq
MIRT902617	hsa-let-7f	CLIP-seq
MIRT902618	hsa-let-7g	CLIP-seq
MIRT902619	hsa-let-7i	CLIP-seq
MIRT902620	hsa-miR-122	CLIP-seq
MIRT902621	hsa-miR-1254	CLIP-seq
MIRT902622	hsa-miR-1297	CLIP-seq
MIRT902623	hsa-miR-1299	CLIP-seq
MIRT902624	hsa-miR-130a	CLIP-seq
MIRT902625	hsa-miR-130b	CLIP-seq
MIRT902626	hsa-miR-155	CLIP-seq
MIRT902627	hsa-miR-1825	CLIP-seq
MIRT902628	hsa-miR-19a	CLIP-seq
MIRT902629	hsa-miR-19b	CLIP-seq
MIRT902630	hsa-miR-202	CLIP-seq
MIRT902631	hsa-miR-203	CLIP-seq
MIRT902632	hsa-miR-224	CLIP-seq
MIRT902633	hsa-miR-2355-5p	CLIP-seq
MIRT902634	hsa-miR-26a	CLIP-seq
MIRT902635	hsa-miR-26b	CLIP-seq
MIRT902636	hsa-miR-297	CLIP-seq
MIRT902637	hsa-miR-301a	CLIP-seq
MIRT902638	hsa-miR-301b	CLIP-seq
MIRT902639	hsa-miR-31	CLIP-seq
MIRT902640	hsa-miR-3116	CLIP-seq
MIRT902641	hsa-miR-3123	CLIP-seq
MIRT902642	hsa-miR-3140-3p	CLIP-seq
MIRT902643	hsa-miR-3201	CLIP-seq
MIRT902644	hsa-miR-338-5p	CLIP-seq
MIRT902645	hsa-miR-3646	CLIP-seq
MIRT902646	hsa-miR-365	CLIP-seq
MIRT902647	hsa-miR-3666	CLIP-seq
MIRT902648	hsa-miR-3679-3p	CLIP-seq
MIRT902649	hsa-miR-3688-5p	CLIP-seq
MIRT902650	hsa-miR-382	CLIP-seq
MIRT902651	hsa-miR-3925-3p	CLIP-seq
MIRT902652	hsa-miR-3925-5p	CLIP-seq
MIRT902653	hsa-miR-3976	CLIP-seq
MIRT902654	hsa-miR-4282	CLIP-seq
MIRT902655	hsa-miR-4295	CLIP-seq
MIRT902656	hsa-miR-4452	CLIP-seq
MIRT902657	hsa-miR-4458	CLIP-seq
MIRT902658	hsa-miR-4465	CLIP-seq
MIRT902659	hsa-miR-4477a	CLIP-seq
MIRT902660	hsa-miR-4481	CLIP-seq
MIRT902661	hsa-miR-4500	CLIP-seq
MIRT902662	hsa-miR-4517	CLIP-seq
MIRT902663	hsa-miR-454	CLIP-seq
MIRT902664	hsa-miR-4662a-3p	CLIP-seq
MIRT902665	hsa-miR-4666-3p	CLIP-seq
MIRT902666	hsa-miR-4745-5p	CLIP-seq
MIRT902667	hsa-miR-4753-5p	CLIP-seq
MIRT902668	hsa-miR-4758-5p	CLIP-seq
MIRT902669	hsa-miR-4781-3p	CLIP-seq
MIRT902670	hsa-miR-4782-5p	CLIP-seq
MIRT902671	hsa-miR-4791	CLIP-seq
MIRT902672	hsa-miR-516b	CLIP-seq
MIRT902673	hsa-miR-548ad	CLIP-seq
MIRT902674	hsa-miR-550b	CLIP-seq
MIRT902675	hsa-miR-567	CLIP-seq
MIRT902676	hsa-miR-622	CLIP-seq
MIRT902677	hsa-miR-653	CLIP-seq
MIRT902678	hsa-miR-656	CLIP-seq
MIRT902679	hsa-miR-661	CLIP-seq
MIRT902680	hsa-miR-889	CLIP-seq
MIRT902681	hsa-miR-934	CLIP-seq
MIRT902682	hsa-miR-98	CLIP-seq
MIRT902631	hsa-miR-203	CLIP-seq
MIRT902631	hsa-miR-203	CLIP-seq
MIRT1967708	hsa-miR-3130-3p	CLIP-seq
MIRT1967709	hsa-miR-4268	CLIP-seq
MIRT1967710	hsa-miR-4287	CLIP-seq
MIRT1967711	hsa-miR-433	CLIP-seq
MIRT1967712	hsa-miR-4448	CLIP-seq
MIRT1967713	hsa-miR-4685-3p	CLIP-seq
MIRT1967714	hsa-miR-4760-3p	CLIP-seq
MIRT1967715	hsa-miR-4793-3p	CLIP-seq
MIRT1967716	hsa-miR-518a-5p	CLIP-seq
MIRT1967717	hsa-miR-527	CLIP-seq
MIRT1967718	hsa-miR-562	CLIP-seq
MIRT2203526	hsa-miR-153	CLIP-seq
MIRT2203527	hsa-miR-4263	CLIP-seq
MIRT2203528	hsa-miR-448	CLIP-seq
MIRT2203529	hsa-miR-4698	CLIP-seq
MIRT2203530	hsa-miR-576-5p	CLIP-seq
MIRT2386335	hsa-miR-1587	CLIP-seq
MIRT902631	hsa-miR-203	CLIP-seq
MIRT2386336	hsa-miR-331-3p	CLIP-seq
MIRT2386337	hsa-miR-412	CLIP-seq
MIRT2386338	hsa-miR-4659a-3p	CLIP-seq
MIRT2386339	hsa-miR-4659b-3p	CLIP-seq
MIRT2386340	hsa-miR-4674	CLIP-seq
MIRT2386341	hsa-miR-4713-5p	CLIP-seq
MIRT2386342	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9143499
GO:0005201	Function	Extracellular matrix structural constituent	NAS	1639419, 7775380
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005581	Component	Collagen trimer	NAS	7775380
GO:0005581	Component	Collagen trimer	TAS	9143499
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	7775380
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030154	Process	Cell differentiation	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	NAS	1639419
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	1639419
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	1639419
GO:0098609	Process	Cell-cell adhesion	NAS	1639419

Other IDs

• MIM: 120165
• HGNC: 2196
• e!Ensembl: ENSG00000082293

Protein

• UniProt ID: Q14993
• Protein name: Collagen alpha-1(XIX) chain (Collagen alpha-1(Y) chain)
• Protein function: May act as a cross-bridge between fibrils and other extracellular matrix molecules. Involved in skeletal myogenesis in the developing esophagus. May play a role in organization of the pericellular matrix or the sphinteric smooth muscle. {ECO:000
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	289 → 350	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	331 → 395	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	379 → 441	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	452 → 533	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	565 → 628	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	625 → 681	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	756 → 821	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	838 → 904	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	887 → 957	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	947 → 1012	Collagen triple helix repeat (20 copies)	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Localized to vascular, neuronal, mesenchymal, and some epithelial basement membrane zones in umbilical cord. {ECO:0000269|PubMed:12788917}.
• Sequence:

  MRLTGPWKLWLWMSIFLLPASTSVTVRDKTEESCPILRIEGHQLTYDNINKLEVSGFDLG
  DSFSLRRAFCESDKTCFKLGSALLIRDTIKIFPKGLPEEYSVAAMFRVRRNAKKERWFLW
  QVLNQQNIPQISIVVDGGKKVVEFMFQATEGDVLNYIFRNRELRPLFDRQWHKLGISIQS
  QVISLYMDCNLIARRQTDEKDTVDFHGRTVIATRASDGKPVDIELHQLKIYCSANLIAQE
  TCCEISDTKCPEQDGFGNIASSWVTAHASKMSSYLPAKQELKDQCQCIPNKGEAGLPGAP
  GSPGQKGHKGEPGENGLHGAPGFPGQKGEQGFEGSKGETGEKGEQGEKGDPALAGLNGEN
  GLKGDLGPHGPPGPKGEKGDTGPPGPPALPGSLGIQGPQGPPGKEGQRGRRGKTGPPGKP
  GPPGPPGPPGIQGIHQTLGGYYNKDNKGNDEHEAGGLKGDKGETGLPGFPGSVGPKGQKG
  EPGEPFTKGEKGDRGEPGVIGSQGVKGEPGDPGPPGLIGSPGLKGQQGSAGSMGPRGPPG
  DVGLPGEHGIPGKQGIKGEKGDPGGIIGPPGLPGPKGEAGPPGKSLPGEPGLDGNPGAPG
  PRGPKGERGLPGVHGSPGDIGPQGIGIPGRTGAQGPAGEPGIQGPRGLPGLPGTPGTPGN
  DGVPGRDGKPGLPGPPGDPIALPLLGDIGALLKNFCGNCQASVPGLKSNKGEEGGAGEPG
  KYDSMARKGDIGPRGPPGIPGREGPKGSKGERGYPGIPGEKGDEGLQGIPGIPGAPGPTG
  PPGLMGRTGHPGPTGAKGEKGSDGPPGKPGPPGPPGIPFNERNGMSSLYKIKGGVNVPSY
  PGPPGPPGPKGDPGPVGEPGAMGLPGLEGFPGVKGDRGPAGPPGIAGMSGKPGAPGPPGV
  PGEPGERGPVGDIGFPGPEGPSGKPGINGKDGIPGAQGIMGKPGDRGPKGERGDQGIPGD
  RGSQGERGKPGLTGMKGAIGPMGPPGNKGSMGSPGHQGPPGSPGIPGIPADAVSFEEIKK
  YINQEVLRIFEERMAVFLSQLKLPAAMLAAQAYGRPGPPGKDGLPGPPGDPGPQGYRGQK
  GERGEPGIGLPGSPGLPGTSALGLPGSPGAPGPQGPPGPSGRCNPEDCLYPVSHAHQRTG
  GN

• Sequence length: 1142

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31011479		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37005910	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	CTD_human_DG	25475535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	8034603	Associate	★☆☆☆☆ Found in Text Mining only