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    CSAG1 chondrosarcoma associated gene 1 [ Homo sapiens (human) ]

    Gene ID: 158511, updated on 12-Sep-2024

    Summary

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    Official Symbol
    CSAG1provided by HGNC
    Official Full Name
    chondrosarcoma associated gene 1provided by HGNC
    Primary source
    HGNC:HGNC:24294
    See related
    Ensembl:ENSG00000198930 MIM:300944; AllianceGenome:HGNC:24294
    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
    CSAGE; CT24.1
    Summary
    This gene encodes a member of a family of tumor antigens. The protein is expressed in chondrosarcomas, but may also be expressed in normal tissues such as testis. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xq28
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (152727484..152733721, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (150994063..151000300, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151903242..151909518)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905224 Neighboring gene MAGE family member A2B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:151902449-151903648 Neighboring gene MAGE family member A12 Neighboring gene CSAG family member 4 (pseudogene) Neighboring gene MAGE family member A2

    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. Analysis of compensatory substitution and gene evolution on the MAGEA/CSAG-palindrome of the primate X chromosomes. Qi Y, et al. Comput Biol Chem, 2013 Feb. PMID 23257410
    2. CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53. Sapkota H, et al. J Cell Sci, 2020 May 27. PMID 32295846, Free PMC Article
    3. Exome sequencing in a family segregating for celiac disease. Szperl AM, et al. Clin Genet, 2011 Aug. PMID 21627641
    4. Cancer/testis antigen CSAGE is concurrently expressed with MAGE in chondrosarcoma. Lin C, et al. Gene, 2002 Feb 20. PMID 12039054
    5. A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family. Hansen MA, et al. Mol Reprod Dev, 2008 Feb. PMID 17342728

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53.
      Title: CSAG1 maintains the integrity of the mitotic centrosome in cells with defective p53.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in centrosome cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    chondrosarcoma-associated gene 1 protein
    Names
    cancer/testis antigen 24.1
    cancer/testis antigen CSAGE
    cancer/testis antigen family 24, member 1
    putative chondrosarcoma-associated gene 1 protein

    NCBI Reference Sequences (RefSeq)

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    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_013228.2 RefSeqGene

      Range
      5014..11251
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001102576.3 → NP_001096046.2  chondrosarcoma-associated gene 1 protein

      See identical proteins and their annotated locations for NP_001096046.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (c) differs in the 5' UTR compared to variant a. Variants a and c both encode the same protein.
      Source sequence(s)
      AF195880, BC059947
      Consensus CDS
      CCDS76047.1
      UniProtKB/Swiss-Prot
      A0A024RC18, A6NE22, Q6PB30
      UniProtKB/TrEMBL
      A0AAG2UXQ3
      Related
      ENSP00000396520.2, ENST00000452779.3

    2. NM_153478.3 → NP_705611.2  chondrosarcoma-associated gene 1 protein

      See identical proteins and their annotated locations for NP_705611.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longer transcript. Variants a and c both encode the same protein.
      Source sequence(s)
      AF195880, AF268419, BC059947
      Consensus CDS
      CCDS76047.1
      UniProtKB/Swiss-Prot
      A0A024RC18, A6NE22, Q6PB30
      UniProtKB/TrEMBL
      A0AAG2UXQ3
      Related
      ENSP00000359310.3, ENST00000370287.7

    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
      152727484..152733721 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441858.1 → XP_047297814.1  chondrosarcoma-associated gene 1 protein isoform X1

      UniProtKB/TrEMBL
      A0AAG2UXQ3

    2. XM_047441859.1 → XP_047297815.1  chondrosarcoma-associated gene 1 protein isoform X1

      UniProtKB/TrEMBL
      A0AAG2UXQ3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791818.1 Reference GRCh38.p14 PATCHES

      Range
      349888..356164
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333335.1 → XP_054189310.1  chondrosarcoma-associated gene 1 protein isoform X1

      UniProtKB/TrEMBL
      A0AAG2UXQ3

    2. XM_054333336.1 → XP_054189311.1  chondrosarcoma-associated gene 1 protein isoform X1

      UniProtKB/TrEMBL
      A0AAG2UXQ3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      150994063..151000300 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_153479.1: Suppressed sequence

      Description
      NM_153479.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PB30.3 GenPept UniProtKB/Swiss-Prot:Q6PB30

    Gene LinkOut

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

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