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,... See more...

Aliases for CPXCR1 Gene

Aliases for CPXCR1 Gene

  • CPX Chromosome Region Candidate 1 2 3 5
  • Cancer/Testis Antigen 77 2 3 4
  • CPX Chromosomal Region Candidate Gene 1 Protein 3 4
  • CT77 3 4

External Ids for CPXCR1 Gene

Previous GeneCards Identifiers for CPXCR1 Gene

  • GC0XP083274
  • GC0XP084971
  • GC0XP086037
  • GC0XP086774
  • GC0XP087808
  • GC0XP088002
  • GC0XP081584

Summaries for CPXCR1 Gene

Entrez Gene Summary for CPXCR1 Gene

  • 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]

GeneCards Summary for CPXCR1 Gene

CPXCR1 (CPX Chromosome Region Candidate 1) is a Protein Coding gene. Diseases associated with CPXCR1 include Cleft Palate With Or Without Ankyloglossia, X-Linked and Ankyloglossia With Or Without Tooth Anomalies.

Additional gene information for CPXCR1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CPXCR1 Gene

Genomics for CPXCR1 Gene

GeneHancer (GH) Regulatory Elements for CPXCR1 Gene


Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CPXCR1

Top Transcription factor binding sites by QIAGEN in the CPXCR1 gene promoter:
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-kappaB
  • NF-kappaB1
  • Sox9

Genomic Locations for CPXCR1 Gene

Genomic Locations for CPXCR1 Gene
chrX:88,747,225-88,754,785
(GRCh38/hg38)
Size:
7,561 bases
Orientation:
Plus strand
chrX:88,002,226-88,009,786
(GRCh37/hg19)
Size:
7,561 bases
Orientation:
Plus strand

Genomic View for CPXCR1 Gene

Genes around CPXCR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPXCR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPXCR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPXCR1 Gene

Proteins for CPXCR1 Gene

  • Protein details for CPXCR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N123-CPXCR_HUMAN
    Recommended name:
    CPX chromosomal region candidate gene 1 protein
    Protein Accession:
    Q8N123
    Secondary Accessions:
    • B2R9F9
    • D3DTE7
    • Q96RS3

    Protein attributes for CPXCR1 Gene

    Size:
    301 amino acids
    Molecular mass:
    34727 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CPXCR1 Gene

Post-translational modifications for CPXCR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPXCR1 Gene

No data available for DME Specific Peptides for CPXCR1 Gene

Domains & Families for CPXCR1 Gene

Gene Families for CPXCR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CPXCR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CPXCR1 Gene

GenScript: Design optimal peptide antigens:
  • Cancer/testis antigen 77 (CPXCR_HUMAN)
genes like me logo Genes that share domains with CPXCR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CPXCR1 Gene

Function for CPXCR1 Gene

Phenotypes From GWAS Catalog for CPXCR1 Gene

Gene Ontology (GO) - Molecular Function for CPXCR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with CPXCR1: view
genes like me logo Genes that share phenotypes with CPXCR1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPXCR1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CPXCR1 Gene

Localization for CPXCR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CPXCR1 gene
Compartment Confidence
nucleus 3
cytosol 2
cytoskeleton 1
extracellular 0

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CPXCR1 Gene

Pathways & Interactions for CPXCR1 Gene

PathCards logo

SuperPathways for CPXCR1 Gene

No Data Available

Interacting Proteins for CPXCR1 Gene

;

Gene Ontology (GO) - Biological Process for CPXCR1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CPXCR1 Gene

Drugs & Compounds for CPXCR1 Gene

No Compound Related Data Available

Transcripts for CPXCR1 Gene

mRNA/cDNA for CPXCR1 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CPXCR1

Alternative Splicing Database (ASD) splice patterns (SP) for CPXCR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for CPXCR1 Gene

GeneLoc Exon Structure for
CPXCR1

Expression for CPXCR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CPXCR1 Gene

mRNA differential expression in normal tissues according to GTEx for CPXCR1 Gene

This gene is overexpressed in Testis (x52.2).

Protein differential expression in normal tissues from HIPED for CPXCR1 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CPXCR1 Gene



Protein tissue co-expression partners for CPXCR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CPXCR1

SOURCE GeneReport for Unigene cluster for CPXCR1 Gene:

Hs.458292

mRNA Expression by UniProt/SwissProt for CPXCR1 Gene:

Q8N123-CPXCR_HUMAN
Tissue specificity: Expressed in a variety of fetal tissues.
genes like me logo Genes that share expression patterns with CPXCR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CPXCR1 Gene

Orthologs for CPXCR1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for CPXCR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CPXCR1 31 30
  • 99.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cpxcr1 17 31 30
  • 63.82 (n)
Species where no ortholog for CPXCR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CPXCR1 Gene

ENSEMBL:
Gene Tree for CPXCR1 (if available)
TreeFam:
Gene Tree for CPXCR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CPXCR1: view image

Paralogs for CPXCR1 Gene

No data available for Paralogs for CPXCR1 Gene

Variants for CPXCR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CPXCR1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs5940915 - p.Tyr3Ser
rs5984611 - p.Arg131His

Additional dbSNP identifiers (rs#s) for CPXCR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CPXCR1 Gene

Variant ID Type Subtype PubMed ID
nsv515219 CNV loss 21397061

Variation tolerance for CPXCR1 Gene

Residual Variation Intolerance Score: 71.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CPXCR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CPXCR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPXCR1 Gene

Disorders for CPXCR1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CPXCR1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CPXCR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CPXCR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CPXCR1 Gene

Publications for CPXCR1 Gene

  1. Physical and transcriptional mapping of the X-linked cleft palate and ankyloglossia (CPX) critical region. (PMID: 11499681) Braybrook C … Stanier P (Human genetics 2001) 2 3 4 54
  2. Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children. (PMID: 28428959) Antúnez-Ortiz DL … Cruz M (BioMed research international 2017) 3 54
  3. Genetically distinct subsets within ANCA-associated vasculitis. (PMID: 22808956) Lyons PA … Smith KG (The New England journal of medicine 2012) 3 54
  4. [Association of genetic polymorphisms in selenoprotein GPX1 and TXNRD2 with genetic susceptibility of gastric cancer]. (PMID: 19035188) Wang J … Xiao Y (Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine] 2008) 41 54
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 4 54

Products for CPXCR1 Gene

Sources for CPXCR1 Gene