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CHIC1 cysteine rich hydrophobic domain 1 [ Homo sapiens (human) ]

Gene ID: 53344, updated on 5-Jan-2022

Summary

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Official Symbol
CHIC1provided by HGNC
Official Full Name
cysteine rich hydrophobic domain 1provided by HGNC
Primary source
HGNC:HGNC:1934
See related
Ensembl:ENSG00000204116 MIM:300922
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRX
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 mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in brain (RPKM 2.4), adrenal (RPKM 1.9) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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See CHIC1 in Genome Data Viewer
Location:
Xq13.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (73563045..73687111)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (72782984..72906944)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mortality factor 4 like 1 pseudogene 6 Neighboring gene mitogen-activated protein kinase kinase 4 pseudogene 1 Neighboring gene ribosomal protein L7 pseudogene 53 Neighboring gene selenophosphate synthetase 1 pseudogene 4 Neighboring gene TSIX transcript, XIST antisense RNA Neighboring gene X inactive specific transcript

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif. Cools J, et al. FEBS Lett, 2001 Mar 16. PMID 11257495
  2. Localization and expression analysis of a novel conserved brain expressed transcript, Brx/BRX, lying within the Xic/XIC candidate region. Simmler MC, et al. Mamm Genome, 1997 Oct. PMID 9321471
  3. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
  4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781,
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

See all (6) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp313P1931, DKFZp686F2342

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cysteine-rich hydrophobic domain-containing protein 1
Names
brain X-linked protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054895.1 RefSeqGene

    Range
    5104..129065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039840.4 → NP_001034929.2  cysteine-rich hydrophobic domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001034929.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL356513, AL358796
    Consensus CDS
    CCDS35335.2
    UniProtKB/Swiss-Prot
    Q5VXU3
    Related
    ENSP00000362601.5, ENST00000373502.10
    Conserved Domains (1) summary
    pfam10256
    Location:105 → 137
    Erf4; Golgin subfamily A member 7/ERF4 family

  2. NM_001300884.1 → NP_001287813.1  cysteine-rich hydrophobic domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001287813.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region comapred to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL356513, AL358796, BC127727
    Consensus CDS
    CCDS75993.1
    UniProtKB/Swiss-Prot
    Q5VXU3
    Related
    ENSP00000362603.5, ENST00000373504.10
    Conserved Domains (1) summary
    pfam10256
    Location:105 → 137
    Erf4; Golgin subfamily A member 7/ERF4 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    73563045..73687111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029582.1 → XP_016885071.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X1

  2. XM_017029584.1 → XP_016885073.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X3

  3. XM_017029583.1 → XP_016885072.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X2

RNA

  1. XR_001755699.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VXU3.2 GenPept UniProtKB/Swiss-Prot:Q5VXU3

Gene LinkOut

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