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    SAGE1 sarcoma antigen 1 [ Homo sapiens (human) ]

    Gene ID: 55511, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SAGE1provided by HGNC
    Official Full Name
    sarcoma antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:30369
    See related
    Ensembl:ENSG00000181433 MIM:300359; AllianceGenome:HGNC:30369
    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
    CT14; SAGE
    Summary
    This gene belongs to a class of genes that are activated in tumors. These genes are expressed in tumors of different histologic types but not in normal tissues, except for spermatogenic cells and, for some, placenta. The proteins encoded by these genes appear to be strictly tumor specific, and hence may be excellent sources of antigens for cancer immunotherapy. This gene is expressed in sarcomas. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 2.8) See more
    Orthologs
    all
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    Genomic context

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    Location:
    Xq26.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135893716..135913062)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (134202030..134221779)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134975867..134995221)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene cancer/testis antigen family 45 member A9 Neighboring gene Sharpr-MPRA regulatory region 13624 Neighboring gene cancer/testis antigen family 45 member A10 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:134987035-134988234 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:135014477-135014713 Neighboring gene cancer/testis antigen family 45 member A11, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29987 Neighboring gene membrane magnesium transporter 1 Neighboring gene solute carrier family 9 member A6

    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. SAGE1: a Potential Target Antigen for Lung Cancer T-Cell Immunotherapy. Zhang Y, et al. Mol Cancer Ther, 2021 Nov. PMID 34465596
    2. Determination of cellularly processed HLA-A2402-restricted novel CTL epitopes derived from two cancer germ line genes, MAGE-A4 and SAGE. Miyahara Y, et al. Clin Cancer Res, 2005 Aug 1. PMID 16061876
    3. Identification on a human sarcoma of two new genes with tumor-specific expression. Martelange V, et al. Cancer Res, 2000 Jul 15. PMID 10919659
    4. MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours. Ishihara M, et al. BMC Cancer, 2020 Jun 29. PMID 32600281, Free PMC Article
    5. Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in Lung and Breast Cancer. Maheswaran E, et al. PLoS One, 2015. PMID 26252478, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SAGE1: a Potential Target Antigen for Lung Cancer T-Cell Immunotherapy.
      Title: SAGE1: a Potential Target Antigen for Lung Cancer T-Cell Immunotherapy.
    2. MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours.
      Title: MAGE-A4, NY-ESO-1 and SAGE mRNA expression rates and co-expression relationships in solid tumours.
    3. ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer.
      Title: Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in Lung and Breast Cancer.
    4. MAGE-A4(143-151) and SAGE(715-723) are HLA-A2402-restricted CTL epitopes
      Title: Determination of cellularly processed HLA-A2402-restricted novel CTL epitopes derived from two cancer germ line genes, MAGE-A4 and SAGE.
    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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in snRNA 3'-end processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of integrator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    sarcoma antigen 1
    Names
    cancer/testis antigen 14
    putative tumor antigen

    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_012571.2 RefSeqGene

      Range
      5002..24348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001381902.1 → NP_001368831.1  sarcoma antigen 1

      Status: REVIEWED

      Source sequence(s)
      AC240441, AL953870
      Consensus CDS
      CCDS14652.1
      UniProtKB/Swiss-Prot
      Q5JNW0, Q9NXZ1
      Related
      ENSP00000359743.3, ENST00000370709.4
      Conserved Domains (1) summary
      pfam15300
      Location:823 → 884
      INT_SG_DDX_CT_C; INTS6/SAGE1/DDX26B/CT45 C-terminus

    2. NM_018666.3 → NP_061136.2  sarcoma antigen 1

      See identical proteins and their annotated locations for NP_061136.2

      Status: REVIEWED

      Source sequence(s)
      AJ278111, AL953870, BF056519, CD358947
      Consensus CDS
      CCDS14652.1
      UniProtKB/Swiss-Prot
      Q5JNW0, Q9NXZ1
      Conserved Domains (1) summary
      pfam15300
      Location:823 → 884
      INT_SG_DDX_CT_C; INTS6/SAGE1/DDX26B/CT45 C-terminus

    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
      135893716..135913062
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029622.2 → XP_016885111.1  sarcoma antigen 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5JNW0, Q9NXZ1
      Conserved Domains (1) summary
      pfam15300
      Location:823 → 884
      INT_SG_DDX_CT_C; INTS6/SAGE1/DDX26B/CT45 C-terminus

    2. XM_047442246.1 → XP_047298202.1  sarcoma antigen 1 isoform X3

    3. XM_017029625.2 → XP_016885114.1  sarcoma antigen 1 isoform X4

    4. XM_017029623.2 → XP_016885112.1  sarcoma antigen 1 isoform X2

    5. XM_017029627.2 → XP_016885116.1  sarcoma antigen 1 isoform X6

    6. XM_017029626.2 → XP_016885115.1  sarcoma antigen 1 isoform X5

    RNA

    1. XR_001755708.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      134202030..134221779
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327362.1 → XP_054183337.1  sarcoma antigen 1 isoform X7

    2. XM_054327366.1 → XP_054183341.1  sarcoma antigen 1 isoform X10

    3. XM_054327364.1 → XP_054183339.1  sarcoma antigen 1 isoform X8

    4. XM_054327365.1 → XP_054183340.1  sarcoma antigen 1 isoform X9

    5. XM_054327363.1 → XP_054183338.1  sarcoma antigen 1 isoform X7

    6. XM_054327368.1 → XP_054183343.1  sarcoma antigen 1 isoform X6

    7. XM_054327367.1 → XP_054183342.1  sarcoma antigen 1 isoform X5

    RNA

    1. XR_008485492.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXZ1.2 GenPept UniProtKB/Swiss-Prot:Q9NXZ1

    Gene LinkOut

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

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