Gene Gene information from NCBI Gene database.
Entrez ID 91522
Gene name Collagen type XXIII alpha 1 chain
Gene symbol COL23A1
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q35.3
Summary COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
293
miRTarBase ID miRNA Experiments Reference
MIRT499047 hsa-miR-4438 PAR-CLIP 20371350
MIRT499045 hsa-miR-501-3p PAR-CLIP 20371350
MIRT499046 hsa-miR-502-3p PAR-CLIP 20371350
MIRT499044 hsa-miR-6504-3p PAR-CLIP 20371350
MIRT499043 hsa-miR-1224-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0005788 Component Endoplasmic reticulum lumen TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610043 22990 ENSG00000050767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86Y22
Protein name Collagen alpha-1(XXIII) chain
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 117 173 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 196 257 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 250 307 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 317 377 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 342 400 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 410 471 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 463 532 Collagen triple helix repeat (20 copies) Repeat
Sequence
MGPGERAGGGGDAGKGNAAGGGGGGRSATTAGSRAVSALCLLLSVGSAAACLLLGVQAAA
LQGRVAALEEERELLRRAGPPGALDAWAEPHLERLLREKLDGLAKIRTAREAPSECVCPP
GPPGRRGKPGRRGDPGPPGQSGRDGYPGPLGLDGKPGLPGPKGEKGAPGDFGP
RGDQGQD
GAAGPPGPPGPPGARGPPGDTGKDGPRGAQGPAGPKGEPGQDGEMGPKGPPGPKGEPGVP
GKKGDDGTP
SQPGPPGPKGEPGSMGPRGENGVDGAPGPKGEPGHRGTDGAAGPRGAPGLK
GEQGDTV
VIDYDGRILDALKGPPGPQGPPGPPGIPGAKGELGLPGAPGIDGEKGPKGQKG
DPGEPGPAGLKGEAGEM
GLSGLPGADGLKGEKGESASDSL
QESLAQLIVEPGPPGPPGPP
GPMGLQGIQGPKGLDGAKGEKGASGERGPSGLPGPVGPPGLI
GLPGTKGEKGRPGEPGLD
GFPGPRGEKGDRSERGEKGERGVPGRKGVKGQKGEPGPPGLDQPCPVGPDGL
PVPGCWHK
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Vascular endothelial growth factor (VEGF) inhibitor response association rs17081072 RCV002254030
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 27936202
Hypertrichosis congenital generalized X linked Associate 21636067
Leukemia Myeloid Acute Associate 38163849
Macular Edema Associate 36581632
Neoplasms Associate 25740824
Scleroderma Diffuse Associate 24812288
Thyroid Neoplasms Associate 34167437