C1orf54 (chromosome 1 open reading frame 54)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 79630
Gene name Chromosome 1 open reading frame 54
Gene symbol C1orf54
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q21.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0009611 Process Response to wounding IEA
GO:0043491 Process Phosphatidylinositol 3-kinase/protein kinase B signal transduction IBA
GO:0043491 Process Phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
GO:2001013 Process Epithelial cell proliferation involved in renal tubule morphogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWF1
Protein name Uncharacterized protein C1orf54
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15465 DUF4634 1 → 129 Domain of unknown function (DUF4634) Family
Sequence
Sequence length 131
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Kidney Failure, Acute Kidney Failure BEFREE 29999589
★★★★★
★☆☆☆☆
Found in Text Mining only