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    CAGE1 cancer antigen 1 [ Homo sapiens (human) ]

    Gene ID: 285782, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CAGE1provided by HGNC
    Official Full Name
    cancer antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:21622
    See related
    Ensembl:ENSG00000164304 MIM:608304; AllianceGenome:HGNC:21622
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT3; CT95; CTAG3; bA69L16.7
    Expression
    Restricted expression toward testis (RPKM 5.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See CAGE1 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (7326659..7389742, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7195720..7258781, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7326892..7389975, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16885 Neighboring gene Sharpr-MPRA regulatory region 12169 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7119221-7119796 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7124594-7125112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7140608-7141135 Neighboring gene ras responsive element binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7145752-7146422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23938 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7151030-7151195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7156680-7157346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7160729-7161690 Neighboring gene VISTA enhancer hs2061 Neighboring gene Sharpr-MPRA regulatory region 4659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7169201-7169702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7169703-7170202 Neighboring gene skeletal muscle cis-regulatory module in RREB1 intron Neighboring gene Sharpr-MPRA regulatory region 2698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23941 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7258615-7259114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7261311-7262102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7262103-7262894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7267569-7268070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7273665-7274166 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94357 Neighboring gene MPRA-validated peak5642 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7312596-7313464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:7313465-7314331 Neighboring gene signal sequence receptor subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16890 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:7342644-7342806 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:7346982-7347886 Neighboring gene ACCSL pseudogene 1 Neighboring gene ribosomal protein S3 pseudogene 4 Neighboring gene MPRA-validated peak5644 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7389927-7390713 Neighboring gene NANOG hESC enhancer GRCh37_chr6:7413126-7413896 Neighboring gene RIO kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:7425815-7426316 Neighboring gene uncharacterized LOC102724234

    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. Identification and characterization of a novel cancer/testis antigen gene CAGE-1. Park S, et al. Biochim Biophys Acta, 2003 Jan 27. PMID 12531476
    2. miR-200b and cancer/testis antigen CAGE form a feedback loop to regulate the invasion and tumorigenic and angiogenic responses of a cancer cell line to microtubule-targeting drugs. Kim Y, et al. J Biol Chem, 2013 Dec 20. PMID 24174534, Free PMC Article
    3. High frequency of promoter methylation of the 14-3-3 sigma and CAGE-1 genes, but lack of hypermethylation of the caveolin-1 gene, in primary adenocarcinomas and signet ring cell carcinomas of the urinary bladder. Kunze E, et al. Int J Mol Med, 2007 Oct. PMID 17786288
    4. Characterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patients. Parmigiani RB, et al. Proc Natl Acad Sci U S A, 2006 Nov 28. PMID 17114284, Free PMC Article
    5. Promoter hypermethylation of the 14-3-3 sigma, SYK and CAGE-1 genes is related to the various phenotypes of urinary bladder carcinomas and associated with progression of transitional cell carcinomas. Kunze E, et al. Int J Mol Med, 2006 Oct. PMID 16964403

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CAGE and miR-200b form a feedback regulatory loop.
      Title: miR-200b and cancer/testis antigen CAGE form a feedback loop to regulate the invasion and tumorigenic and angiogenic responses of a cancer cell line to microtubule-targeting drugs.
    2. The present data suggest that promoter methylation of the 14-3-3 sigma and CAGE-1 genes plays a crucial role during the phenotypical morphogenesis of vesical adenocarcinomas including signet ring cell carcinomas by an epigenetic mechanism.
      Title: High frequency of promoter methylation of the 14-3-3 sigma and CAGE-1 genes, but lack of hypermethylation of the caveolin-1 gene, in primary adenocarcinomas and signet ring cell carcinomas of the urinary bladder.
    3. identification and characterization of CAGE-1 gene; displays testis-specific expression among normal tissues, and wide expression among various cancer tissues and cancer cell lines
      Title: Identification and characterization of a novel cancer/testis antigen gene CAGE-1.
    4. CTSP-1 should be considered a promising candidate for cancer immunotherapy
      Title: Characterization of a cancer/testis (CT) antigen gene family capable of eliciting humoral response in cancer patients.
    5. The different patterns of aberrant methylation of the CAGE-1 gene in the various histopathological cancer types of the urinary bladder point to a role in tumor cell differentiation.
      Title: Promoter hypermethylation of the 14-3-3 sigma, SYK and CAGE-1 genes is related to the various phenotypes of urinary bladder carcinomas and associated with progression of transitional cell carcinomas.
    Submit: New GeneRIF Correction

    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

    Potential readthrough

    Included gene: SSR1

    Homology

    Clone Names

    • FLJ40441

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cancer-associated gene 1 protein
    Names
    cancer/testis antigen 3
    cancer/testis antigen 95
    cancer/testis antigen gene 1

    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.

    mRNA and Protein(s)

    1. NM_001170692.2 → NP_001164163.1  cancer-associated gene 1 protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL139095
      Consensus CDS
      CCDS54965.1
      UniProtKB/TrEMBL
      E7EUJ7
      Related
      ENSP00000425493.1, ENST00000502583.6
      Conserved Domains (4) summary
      COG0419
      Location:307 → 839
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam15066
      Location:30 → 517
      CAGE1; Cancer-associated gene protein 1 family
      cd16269
      Location:512 → 521
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:350 → 541
      GBP_C; Guanylate-binding protein, C-terminal domain

    2. NM_001170693.2 → NP_001164164.1  cancer-associated gene 1 protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region and uses an alternate exon in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) lacks an internal segment and has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF414185, AK097760, AL139095, BC026194
      Consensus CDS
      CCDS54964.1
      UniProtKB/Swiss-Prot
      D6RCT9, Q5TAM0, Q86TM4, Q8N7R5, Q8TC20
      Related
      ENSP00000338107.4, ENST00000338150.8
      Conserved Domains (3) summary
      pfam15066
      Location:30 → 517
      CAGE1; Cancer-associated gene protein 1 family
      cd16269
      Location:512 → 521
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:350 → 541
      GBP_C; Guanylate-binding protein, C-terminal domain

    3. NM_205864.3 → NP_995586.1  cancer-associated gene 1 protein isoform 3

      See identical proteins and their annotated locations for NP_995586.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons and uses a downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AF414185, AL139095, BC033545
      Consensus CDS
      CCDS47367.1
      UniProtKB/Swiss-Prot
      D6RCT9, Q5TAM0, Q86TM4, Q8N7R5, Q8TC20
      Related
      ENSP00000296742.7, ENST00000296742.11
      Conserved Domains (3) summary
      pfam15066
      Location:2 → 381
      CAGE1; Cancer-associated gene protein 1 family
      cd16269
      Location:376 → 385
      GBP_C; coiled coil [structural motif]
      cl20817
      Location:214 → 405
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      7326659..7389742 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7195720..7258781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175745.3: Suppressed sequence

      Description
      NM_175745.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC20.2 GenPept UniProtKB/Swiss-Prot:Q8TC20

    Gene LinkOut

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

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