Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 53344
Gene name Cysteine rich hydrophobic domain 1
Gene symbol CHIC1
Synonyms (NCBI Gene)
BRX
Chromosome X
Chromosome location Xq13.2
Summary This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in
miRNA miRNA information provided by mirtarbase database.
580 Show/Hide all (580)
miRTarBase ID miRNA Experiments Reference
MIRT327965 hsa-miR-15b-5p PAR-CLIP 20371350
MIRT327963 hsa-miR-16-5p PAR-CLIP 20371350
MIRT327966 hsa-miR-195-5p PAR-CLIP 20371350
MIRT327967 hsa-miR-424-5p PAR-CLIP 20371350
MIRT327969 hsa-miR-497-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0031410 Component Cytoplasmic vesicle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300922 1934 ENSG00000204116
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VXU3
Protein name Cysteine-rich hydrophobic domain-containing protein 1 (Brain X-linked protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10256 Erf4 98 → 200 Golgin subfamily A member 7/ERF4 family Domain
Tissue specificity TISSUE SPECIFICITY: Equally expressed in various parts of the brain. {ECO:0000269|PubMed:9321471}.
Sequence
MSILLPNMAEFDTISELEEEEEEEAATSSSSPSSSSSVSGPDDDEEDEEEEEEEEEEEEE
EEEEEEEEAPPPPRVVSEEHLRRYAPDPVLVRGAGHITVFGLSNKFDTEFPSVLTGKVAP
EEFKTSIGRVNACLKKALPVNVKWLLCGCLCCCCTLGCSLWPVICLNKRTRRSIQKLIEW
ENNRLYHKLALHWKLTKRKC
ETSNMMEYVILIEFLPKYPIFRPD
Sequence length 224
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
Prostate cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Malignant neoplasm of ovary Ovarian cancer BEFREE 10694326
★★★★★
★☆☆☆☆
Found in Text Mining only