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

    Gene ID: 53344, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:1934
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (73563148..73687111)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (71996510..72120438)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (72782984..72906946)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:72701495-72702694 Neighboring gene mortality factor 4 like 1 pseudogene 6 Neighboring gene mitogen-activated protein kinase kinase 4 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:72775946-72776585 Neighboring gene ribosomal protein L7 pseudogene 53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20905 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:72891741-72891916 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:72948368-72948916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:72987649-72988534 Neighboring gene NANOG hESC enhancer GRCh37_chrX:73005301-73006000 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 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, Free PMC Article
    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

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    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
      5153..129067
      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
      A0PJZ2, B0QZ87, B9EGS5, Q5CZ84, Q5VXU3
      UniProtKB/TrEMBL
      B7Z4S5
      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/TrEMBL
      B7Z4S5
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      73563148..73687111
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029582.2 → XP_016885071.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B7Z3I1

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

    3. XM_017029583.2 → XP_016885072.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X2

    RNA

    1. XR_001755699.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      71996510..72120438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327211.1 → XP_054183186.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X1

    2. XM_054327213.1 → XP_054183188.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X3

    3. XM_054327212.1 → XP_054183187.1  cysteine-rich hydrophobic domain-containing protein 1 isoform X2

    RNA

    1. XR_008485482.1 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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