C1orf53 (chromosome 1 open reading frame 53)

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Gene Gene information from NCBI Gene database.
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Entrez ID 388722
Gene name Chromosome 1 open reading frame 53
Gene symbol C1orf53
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q31.3
miRNA miRNA information provided by mirtarbase database.
1
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miRTarBase ID miRNA Experiments Reference
MIRT026420 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
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GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VUE5
Protein name Uncharacterized protein C1orf53
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17653 DUF5522 82 → 129 Family of unknown function (DUF5522) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in retina and retinoblastoma. {ECO:0000269|PubMed:15897902}.
Sequence 
MAARQIWARTGAALCRQPSAAPPPAPLWVRAGFRQQLSLTLCPANEGNCGGSAPSTPGRP
ERAARPSVSEELTAAERQIAELHAAACAAGQLNYVDPATGYVVLTQIAHLQRGECCGSAC
RHCPYGQVNVKDPSKKKQFNSYFYV
Sequence length 145
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 34446935
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS — GWAS catalog 21399635, 34033851
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 31926635
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS — GWAS catalog 32959083
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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CFAP263 2 shared diseasesBiliary cirrhosis, Biliary cholangitis 2 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis) Related via 2 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. PSMG4 2 shared diseasesBiliary cirrhosis, Biliary cholangitis 2 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis) Related via 2 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. TMEM39A 2 shared diseasesBiliary cirrhosis, Biliary cholangitis 2 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis) Related via 2 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. ZC3HAV1 2 shared diseasesBiliary cirrhosis, Biliary cholangitis 2 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis) Related via 2 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog. EIF4E 2 shared diseasesBiliary cirrhosis, Biliary cholangitis 2 shared evidence sourcesGWAS catalog (Biliary cirrhosis), GWAS catalog (Biliary cholangitis) Related via 2 shared diseases including Biliary cirrhosis, Biliary cholangitis — evidence mostly GWAS catalog.
Systemic lupus erythematosus Linked via 2 of 5 related genesCFAP263, TMEM39A Diabetes mellitus type 2 Linked via 1 of 5 related genesCFAP263 Colorectal cancer Linked via 1 of 5 related genesPSMG4 Obesity Linked via 1 of 5 related genesPSMG4 Multiple sclerosis Linked via 1 of 5 related genesZC3HAV1