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

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

Summary

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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
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Genomic context

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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

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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. 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

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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

EBI GWAS Catalog

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

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

General protein information

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Preferred Names
CPX chromosomal region candidate gene 1 protein
Names
cancer/testis antigen 77

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_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

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Chemical Information
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Tools
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