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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	115908
Gene name Gene Name - the full gene name approved by the HGNC.	Collagen triple helix repeat containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CTHRC1
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spli

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387907029	A>C	Pathogenic	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018001	hsa-miR-335-5p	Microarray	18185580
MIRT019329	hsa-miR-148b-3p	Microarray	17612493
MIRT022682	hsa-miR-124-3p	Microarray	18668037
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25510669
MIRT485660	hsa-miR-548l	PAR-CLIP	20371350
MIRT485659	hsa-miR-630	PAR-CLIP	20371350
MIRT485660	hsa-miR-548l	PAR-CLIP	22012620
MIRT529893	hsa-miR-3185	PAR-CLIP	22012620
MIRT485659	hsa-miR-630	PAR-CLIP	22012620
MIRT485660	hsa-miR-548l	PAR-CLIP	23446348
MIRT485659	hsa-miR-630	PAR-CLIP	23446348
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485660	hsa-miR-548l	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT485659	hsa-miR-630	PAR-CLIP	26701625
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT529893	hsa-miR-3185	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485659	hsa-miR-630	PAR-CLIP	27292025
MIRT485660	hsa-miR-548l	PAR-CLIP	20371350
MIRT485659	hsa-miR-630	PAR-CLIP	20371350
MIRT485660	hsa-miR-548l	PAR-CLIP	22012620
MIRT529893	hsa-miR-3185	PAR-CLIP	22012620
MIRT485659	hsa-miR-630	PAR-CLIP	22012620
MIRT485660	hsa-miR-548l	PAR-CLIP	23446348
MIRT485659	hsa-miR-630	PAR-CLIP	23446348
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT485660	hsa-miR-548l	PAR-CLIP	23592263
MIRT485659	hsa-miR-630	PAR-CLIP	23592263
MIRT437975	hsa-let-7b-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence	34950211
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq
MIRT1547670	hsa-miR-1245b-3p	CLIP-seq
MIRT1547671	hsa-miR-1298	CLIP-seq
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT1547672	hsa-miR-3140-3p	CLIP-seq
MIRT1547673	hsa-miR-3171	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT1547674	hsa-miR-3942-3p	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq
MIRT914738	hsa-miR-133a	CLIP-seq
MIRT914739	hsa-miR-133b	CLIP-seq
MIRT914740	hsa-miR-30a	CLIP-seq
MIRT914741	hsa-miR-30b	CLIP-seq
MIRT914742	hsa-miR-30c	CLIP-seq
MIRT914743	hsa-miR-30d	CLIP-seq
MIRT914744	hsa-miR-30e	CLIP-seq
MIRT914745	hsa-miR-3607-3p	CLIP-seq
MIRT914746	hsa-miR-3686	CLIP-seq
MIRT914747	hsa-miR-4527	CLIP-seq
MIRT914748	hsa-miR-9	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0004666	Function	Prostaglandin-endoperoxide synthase activity	IBA
GO:0005109	Function	Frizzled binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28675934
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IEA
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IDA	18467647, 23056600
GO:0005737	Component	Cytoplasm	IBA
GO:0016528	Component	Sarcoplasm	IEA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0019371	Process	Cyclooxygenase pathway	IBA
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043932	Process	Ossification involved in bone remodeling	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090103	Process	Cochlea morphogenesis	IEA
GO:0090177	Process	Establishment of planar polarity involved in neural tube closure	IEA

MIM	HGNC	e!Ensembl
610635	18831	ENSG00000164932

Protein

UniProt ID

Q96CG8

Protein name

Collagen triple helix repeat-containing protein 1

Protein function

May act as a negative regulator of collagen matrix deposition.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01391	Collagen	53 → 94	Collagen triple helix repeat (20 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells. {ECO:0000269|PubMed:15618538}.

Sequence

MRPQGPAASPQRLRGLLLLLLLQLPAPSSASEIPKGKQKAQLRQREVVDLYNGMCLQGPA
GVPGRDGSPGANGIPGTPGIPGRDGFKGEKGECLRESFEESWTPNYKQCSWSSLNYGIDL
GKIAECTFTKMRSNSALRVLFSGSLRLKCRNACCQRWYFTFNGAECSGPLPIEAIIYLDQ
GSPEMNSTINIHRTSSVEGLCEGIGAGLVDVAIWVGTCSDYPKGDASTGWNSVSRIIIEE
LPK

Sequence length

243

Interactions

View interactions

CTHRC1 (collagen triple helix repeat containing 1)