Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1310
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type XIX alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL19A1
Synonyms (NCBI Gene) Gene synonyms aliases	COL9A1L, D6S228E
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(178)

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

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	9143499
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005201	Function	Extracellular matrix structural constituent	NAS	1639419, 7775380
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	NAS	7775380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	NAS	7775380
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231
GO:0030154	Process	Cell differentiation	IEA
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	NAS	1639419
GO:0030574	Process	Collagen catabolic process	TAS
GO:0030674	Function	Protein-macromolecule adaptor activity	NAS	1639419
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031012	Component	Extracellular matrix	NAS	1639419
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231
GO:0098609	Process	Cell-cell adhesion	NAS	1639419

MIM	HGNC	e!Ensembl
120165	2196	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

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen degradation Collagen biosynthesis and modifying enzymes Collagen chain trimerization

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	25475535

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Neuroticism	Neuroticism			GWAS

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining
Esophageal Squamous Cell Carcinoma	Associate	37005910
Rhabdomyosarcoma	Associate	8034603

COL19A1 (collagen type XIX alpha 1 chain)