COL23A1 (collagen type XXIII alpha 1 chain)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91522
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXIII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL23A1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610043 22990 ENSG00000050767
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
GPPGRRGKPGRRGDPGPPGQSGRDGYPGPLGLDGKPGLPGPKGEKGAPGDFGPRGDQGQD
GAAGPPGPPGPPGARGPPGDTGKDGPRGAQGPAGPKGEPGQDGEMGPKGPPGPKGEPGVP
GKKGDDGTPSQPGPPGPKGEPGSMGPRGENGVDGAPGPKGEPGHRGTDGAAGPRGAPGLK
GEQGDTVVIDYDGRILDALKGPPGPQGPPGPPGIPGAKGELGLPGAPGIDGEKGPKGQKG
DPGEPGPAGLKGEAGEMGLSGLPGADGLKGEKGESASDSLQESLAQLIVEPGPPGPPGPP
GPMGLQGIQGPKGLDGAKGEKGASGERGPSGLPGPVGPPGLIGLPGTKGEKGRPGEPGLD
GFPGPRGEKGDRSERGEKGERGVPGRKGVKGQKGEPGPPGLDQPCPVGPDGLPVPGCWHK
Sequence length 540
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
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.
Disease merge term Disease name Evidence References Source
Bulimia Bulimia nervosa N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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