U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from dbVar

    • Showing Current items.

    CPXCR1 CPX chromosome region candidate 1 [ Homo sapiens (human) ]

    Gene ID: 53336, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    CPXCR1provided by HGNC
    Official Full Name
    CPX chromosome region candidate 1provided by HGNC
    Primary source
    HGNC:HGNC:2332
    See related
    Ensembl:ENSG00000147183 MIM:301055; AllianceGenome:HGNC:2332
    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
    CT77
    Summary
    This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
    Expression
    Restricted expression toward testis (RPKM 3.8) See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    Xq21.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (88747225..88754781)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (87173865..87181413)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (88002226..88009782)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA ACA64 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:87498837-87499672 Neighboring gene uncharacterized LOC107985713 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:87990232-87991431 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:87994167-87994667 Neighboring gene NANOG hESC enhancer GRCh37_chrX:88083247-88083748 Neighboring gene Sharpr-MPRA regulatory region 3371 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:88193497-88193682 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:88238077-88238665 Neighboring gene uncharacterized LOC107985653 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:88418438-88419005 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:88419006-88419572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:88547967-88548466 Neighboring gene sorcin pseudogene 2

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children. Antúnez-Ortiz DL, et al. Biomed Res Int, 2017. PMID 28428959, Free PMC Article
    2. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. Braybrook C, et al. Hum Genet, 2001 Jun. PMID 11499681
    3. Genetically distinct subsets within ANCA-associated vasculitis. Lyons PA, et al. N Engl J Med, 2012 Jul 19. PMID 22808956, Free PMC Article
    4. Sequential genome-wide CRISPR-Cas9 screens identify genes regulating cell-surface expression of tetraspanins. Yang J, et al. Cell Rep, 2023 Feb 28. PMID 36724073
    5. 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

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetically distinct subsets within ANCA-associated vasculitis.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    General protein information

    Go to the top of the page Help
    Preferred Names
    CPX chromosomal region candidate gene 1 protein
    Names
    cancer/testis antigen 77

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_021312.2 RefSeqGene

      Range
      5002..12558
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184771.2 → NP_001171700.2  CPX chromosomal region candidate gene 1 protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL031116
      Consensus CDS
      CCDS14458.1
      UniProtKB/Swiss-Prot
      B2R9F9, D3DTE7, Q8N123, Q96RS3
      Related
      ENSP00000362203.1, ENST00000373111.5

    2. NM_033048.6 → NP_149037.5  CPX chromosomal region candidate gene 1 protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL031116
      Consensus CDS
      CCDS14458.1
      UniProtKB/Swiss-Prot
      B2R9F9, D3DTE7, Q8N123, Q96RS3
      Related
      ENSP00000276127.4, ENST00000276127.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      88747225..88754781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      87173865..87181413
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N123.2 GenPept UniProtKB/Swiss-Prot:Q8N123

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous