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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1294
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen type VII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COL7A1
Synonyms (NCBI Gene) Gene synonyms aliases	EBD1, EBDCT, EBR1, NDNC8
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between

Show/Hide all(163)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79378857	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs116005007	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912828	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912829	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912830	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs121912831	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912832	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912833	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912834	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912835	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912836	C>A,T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121912837	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912838	C>T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912839	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912840	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912842	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912843	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912844	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912846	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912847	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912848	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912849	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912850	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912851	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912852	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs121912853	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, missense variant
rs121912854	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912855	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912856	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139318843	G>A	Likely-pathogenic	Downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs142566193	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs144023803	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs147040026	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149267939	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200972872	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs201728948	C>T	Pathogenic	Missense variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs368007918	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368529673	C>T	Pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs387906605	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs573432153	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs730880286	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs745874032	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs746056280	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs747081862	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs747522386	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs747912732	->C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs749256529	G>-,GG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs751535193	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs752558942	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs756217590	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs757406252	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs757415879	G>A,T	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs757688782	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs758886532	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs759990189	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs760891216	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs761234904	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs762162799	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs765034336	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs765699235	TCCATGTAGGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766902987	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767182886	C>T	Pathogenic	Splice donor variant
rs767539005	C>T	Likely-pathogenic	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs768128088	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs768326843	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs770216458	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs772381373	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs772756089	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs773263825	A>C,G	Likely-pathogenic	Intron variant
rs774332349	C>T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs775288140	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs775496394	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs776841521	C>A,T	Likely-pathogenic	Splice donor variant
rs778165989	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs780261665	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780623622	G>-,GG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786204774	C>A	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs786205561	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs866061439	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886039328	C>T	Pathogenic	3 prime UTR variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs886039329	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886039330	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs886039562	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041186	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041187	C>T	Pathogenic	Splice acceptor variant
rs886041189	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886041417	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041885	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886044621	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058642	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs916512411	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs988031901	C>T	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1013627013	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs1055680335	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517720	->TCCA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517721	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517722	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517724	C>G	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517725	TC>AT	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517726	T>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1057517969	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518706	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1057518863	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057520530	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520566	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520567	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520599	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520693	C>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793904	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793908	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1064793915	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793916	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1064795917	->TGGT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797078	T>C	Pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1064797079	->TCAG	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs1064797080	TTCG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797081	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064797082	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307849	GG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691559	C>G	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1203706188	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs1211890738	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1299648939	C>G,T	Pathogenic	Splice acceptor variant
rs1336602322	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs1342522878	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, synonymous variant, downstream transcript variant
rs1342925232	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1349541188	C>A,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1365148358	A>G	Likely-pathogenic	Splice donor variant
rs1368134215	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553612617	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553612928	T>C	Likely-pathogenic	Splice acceptor variant
rs1553613303	->GTTCCTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553613528	A>C,G	Pathogenic	Splice donor variant
rs1553614878	C>G	Pathogenic	Splice acceptor variant
rs1553849789	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553851245	G>A	Pathogenic	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, stop gained, 3 prime UTR variant, coding sequence variant
rs1553853012	TTCTCCTTTAGGTCCGACAGGGCCAGG>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant
rs1553853022	CCAGGTTCTCCTTTAG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553854678	C>T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1553855868	C>A	Pathogenic	Splice acceptor variant
rs1553855974	->GGAGGCCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553860378	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553862581	C>T	Pathogenic	Splice donor variant
rs1559423385	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559435706	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559444716	T>C	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant
rs1560219171	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1560241522	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575418015	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575425011	G>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575430201	C>T	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575437481	C>AT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575439903	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442301	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442816	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442885	C>T	Likely-pathogenic	Splice acceptor variant
rs1575466699	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575467199	C>A	Pathogenic	Splice donor variant
rs1575470363	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575472776	->TGAATATGTC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575494051	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575495784	C>G	Pathogenic	Splice acceptor variant

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT053739	hsa-miR-29b-3p	Microarray	22942087
MIRT903179	hsa-miR-1207-5p	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903181	hsa-miR-3170	CLIP-seq
MIRT903182	hsa-miR-4722-5p	CLIP-seq
MIRT903183	hsa-miR-4727-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT903185	hsa-miR-4736	CLIP-seq
MIRT903186	hsa-miR-4755-3p	CLIP-seq
MIRT903187	hsa-miR-4763-3p	CLIP-seq
MIRT903188	hsa-miR-4769-3p	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT2506714	hsa-miR-1251	CLIP-seq
MIRT2506715	hsa-miR-191	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT2506716	hsa-miR-4731-3p	CLIP-seq
MIRT2506717	hsa-miR-4801	CLIP-seq
MIRT2506718	hsa-miR-574-3p	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
NFKB1	Unknown	10086338
RELA	Unknown	10086338
SMAD3	Unknown	9843964
SMAD4	Unknown	9843964
SP1	Unknown	10980546;9092567

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	19269366
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005590	Component	Collagen type VII trimer	TAS	9375848
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	9375848
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	8170945
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389

MIM	HGNC	e!Ensembl
120120	2214	ENSG00000114270

Protein

UniProt ID

Q02388

Protein name

Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)

Protein function

Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collage

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	38 → 209	von Willebrand factor type A domain	Domain
PF00041	fn3	233 → 318	Fibronectin type III domain	Domain
PF00041	fn3	331 → 407	Fibronectin type III domain	Domain
PF00041	fn3	419 → 492	Fibronectin type III domain	Domain
PF00041	fn3	509 → 587	Fibronectin type III domain	Domain
PF00041	fn3	599 → 677	Fibronectin type III domain	Domain
PF00041	fn3	687 → 765	Fibronectin type III domain	Domain
PF00041	fn3	777 → 855	Fibronectin type III domain	Domain
PF00041	fn3	868 → 946	Fibronectin type III domain	Domain
PF00092	VWA	1054 → 1227	von Willebrand factor type A domain	Domain
PF01391	Collagen	1251 → 1310	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1296 → 1361	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1449 → 1504	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1489 → 1548	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2034 → 2099	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2099 → 2158	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2257 → 2321	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2317 → 2374	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2373 → 2430	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2407 → 2465	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2466 → 2524	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2526 → 2584	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2563 → 2639	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2617 → 2694	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	2722 → 2787	Collagen triple helix repeat (20 copies)	Repeat
PF00014	Kunitz_BPTI	2875 → 2930	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

Sequence

MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSF
LEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTG
AAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADP
EELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGVPVTRPPDDSTSAPRDLVL
SEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQEVNVPAGETSVRLRGLRPL
TEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSVPGATGYRVTW
RVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT
LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEY
RLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRII
VRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLA
VPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGSGPESSQTLPPDSTATDITGLQPGTT
YQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSSSVTITWTRVPGATGYRVSWH
SAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVRTAPEPVGRVS
RLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY
SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHW
QPEGGQEQSRVLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSI
ELRVVDTSIDSVTLAWTPVSRASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEP
GVSYIFSLTPVLDGVRGPEASVTQTPVCPRGLADVVFLPHATQDNAHRAEATRRVLERLV
LALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVT
AHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVMLGMAGADPEQL
RRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG
EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPG
APGLKGSPGLPGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRG
PLGDPGPRGPPGLPGTAMKGDKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGP
PGKKGEKGDSEDGAPGLPGQPGSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPP
GPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVG
PAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGR
PGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE
DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPG
APGERGIEGFRGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAG
KAGDPGRDGLPGLRGEQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKG
DSGASGREGRDGPKGERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGS
KGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGP
KGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPG
IPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG
PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGM
AGPEGKPGLQGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLT
GPTGAVGLPGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSP
GLPGPVGPKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGE
KGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAP
GVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDK
GDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG
DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLR
GLLGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEK
GDKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK
GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVPG
APGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPSYA
ADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCSLPL
DEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG
TAQD

Sequence length

2944

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Collagen degradation Extracellular matrix organization Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures COPII-mediated vesicle transport Integrin cell surface interactions Anchoring fibril formation Laminin interactions Cargo concentration in the ER Collagen chain trimerization

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dystrophic Epidermolysis Bullosa	Recessive dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa, transient bullous dermolysis of the newborn	rs780261665, rs121912830, rs121912836, rs1064797079, rs757415879, rs1559423385, rs1575494051, rs1368134215, rs886041186, rs761234904, rs1575442301, rs1064797078, rs1553862581, rs760063197, rs121912851 View all (52 more)	N/A
Epidermolysis Bullosa	epidermolysis bullosa dystrophica, Epidermolysis bullosa pruriginosa, autosomal dominant, Epidermolysis bullosa, pretibial, autosomal recessive	rs121912849, rs121912854, rs760063197, rs786204774, rs121912836, rs886058642, rs1032335328, rs780623622, rs121912844, rs374718902, rs762162799, rs1553612928, rs121912837, rs886039330, rs121912845 View all (40 more)	N/A
Epidermolysis Bullosa Dystrophica Inversa	epidermolysis bullosa dystrophica inversa, autosomal recessive	rs761234904, rs768128088, rs143457874, rs1131691385, rs775288140, rs387906604, rs760891216, rs757688782, rs772756089, rs767182886, rs200972872, rs121912856, rs121912847, rs773263825, rs201728948 View all (4 more)	N/A
Epidermolysis Bullosa Pruriginosa	epidermolysis bullosa pruriginosa	rs121912855, rs1064793916, rs144023803, rs1057518863, rs780261665	N/A
generalized dominant dystrophic epidermolysis bullosa	Generalized dominant dystrophic epidermolysis bullosa	rs866061439, rs121912844, rs1057518706, rs121912850, rs121912855, rs1057517722, rs762162799, rs121912832, rs1553854678, rs121912846, rs121912829, rs766902987, rs121912839, rs144023803, rs757688782 View all (6 more)	N/A
Anonychia	anonychia	rs780261665	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amelogenesis imperfecta	Amelogenesis imperfecta type 1	N/A	N/A	ClinVar
Duane Retraction Syndrome	duane retraction syndrome	N/A	N/A	ClinVar
Hepatoblastoma	hepatoblastoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32031203
Amyloidosis	Associate	25566895
amyloidosis IX	Associate	25566895
Anemia Aplastic	Associate	9284109
Aortic Valve Insufficiency	Associate	12558638
Arnold Chiari Malformation	Associate	33974636
Blister	Associate	19726672, 20720561, 25569093, 27434145, 31578311, 35121199, 35163654, 36901775, 8288900, 8592061, 9242516, 9668111
Carcinoma Adenoid Cystic	Associate	1850773
Carcinoma Renal Cell	Associate	32789468
Carcinoma Squamous Cell	Associate	17853916, 35993054, 36901775, 37077084
Chromosome Disorders	Associate	38459694
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19450397
Disease	Associate	33081018
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	1281864, 23591773, 29326176, 31578311
Epidermolysis Bullosa	Associate	1347297, 20574443, 25569093, 27434145, 29182795, 30280950, 32142798, 33921969, 35163654, 35446444, 36430820, 36578049, 36901775, 38368142, 7706758 View all (5 more)
Epidermolysis Bullosa Acquisita	Associate	29182795, 35464429, 36901775, 9740253, 9856843
Epidermolysis Bullosa Dystrophica	Associate	10233777, 10383749, 10469327, 10504458, 11274208, 12485454, 12558638, 1281864, 12880418, 1358979, 16185268, 16189623, 16484981, 16557343, 16710310 View all (114 more)
Epidermolysis Bullosa Dystrophica	Inhibit	33509245
Epidermolysis Bullosa Dystrophica Inversa Autosomal Recessive	Associate	1431215
Epidermolysis bullosa dystrophica Pasini type	Associate	10233777, 1347297, 1358979, 1377750, 15115517, 16189623, 16557343, 1680286, 19726672, 22515571, 7861014, 8170945, 8288900, 8644730, 9347800, 9406826, 9718359 View all (2 more)
Epidermolysis bullosa inversa dystrophica	Associate	1431215
Epidermolysis Bullosa Junctional	Associate	10469327
Epidermolysis bullosa pretibial	Associate	16557343, 16971478, 36901775, 7738360, 8644729, 8900535, 9856843
Epidermolysis Bullosa Pruriginosa	Associate	10383749, 12353709, 15115517, 19197535, 21879237, 22515571, 25222259, 25566895, 36578049, 37676173, 9182828
Epidermolysis Bullosa Simplex	Associate	33921969
Epidermolysis bullosa with pyloric atresia	Associate	34286919
Factor VII Deficiency	Associate	29326176
Fibrosis	Associate	29326176
Fragile X Syndrome	Associate	26380979
Gallbladder Neoplasms	Associate	40527859
Genetic Diseases Inborn	Associate	35446444
Genetic Predisposition to Disease	Associate	8618004, 8618018
Hand Deformities	Associate	20574443
Hypoxia	Associate	32031203
Idiopathic Interstitial Pneumonias	Associate	28821283
Idiopathic Pulmonary Fibrosis	Stimulate	38203769
Inflammation	Associate	29326176, 33670258
Knuckle pads leuconychia and sensorineural deafness	Associate	8618021, 8752681, 9347800
Larsen Syndrome	Associate	7485161
Laryngeal Neoplasms	Inhibit	29499655
Melanosis	Associate	35840442
Metrorrhagia	Associate	35077577
Muscular Dystrophy Duchenne	Associate	7883979, 8051117
Nail Diseases	Associate	9856844
Neoplasm Metastasis	Associate	34512204, 7512792
Neoplasms	Associate	1850773, 22564523, 29499655, 35361846, 35993054
Neoplasms Glandular and Epithelial	Associate	35304249
Osteogenesis Imperfecta Type VII	Associate	16557343, 20720561, 24317394, 27434145, 27669223, 35121199, 36901775
Pathological Conditions Signs and Symptoms	Associate	21448560
Sarcoglycanopathies	Associate	8088783
Skin Diseases	Associate	29130490, 29326176
Skin Diseases Vesiculobullous	Associate	18450758
Skin Neoplasms	Associate	19435799, 29326176
Spherocytosis Type 1	Associate	7706758
Squamous Cell Carcinoma of Head and Neck	Associate	34999279
Stomach Neoplasms	Stimulate	34512204
Stomach Neoplasms	Associate	35120467, 35774273
Toenail Dystrophy Isolated	Associate	25566895
Transient bullous dermolysis of the newborn	Associate	9406826, 9856844
Urinary Bladder Neoplasms	Associate	7512792
Ventricular Fibrillation	Associate	7837248

COL7A1 (collagen type VII alpha 1 chain)