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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

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