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    EBAG9 estrogen receptor binding site associated antigen 9 [ Homo sapiens (human) ]

    Gene ID: 9166, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EBAG9provided by HGNC
    Official Full Name
    estrogen receptor binding site associated antigen 9provided by HGNC
    Primary source
    HGNC:HGNC:3123
    See related
    Ensembl:ENSG00000147654 MIM:605772; AllianceGenome:HGNC:3123
    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
    EB9; PDAF
    Summary
    This gene was identified as an estrogen-responsive gene. Regulation of transcription by estrogen is mediated by estrogen receptor, which binds to the estrogen-responsive element found in the 5'-flanking region of this gene. The encoded protein is a tumor-associated antigen that is expressed at high frequency in a variety of cancers. Alternate splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 10. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 14.2), adrenal (RPKM 7.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EBAG9 in Genome Data Viewer
    Location:
    8q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (109539702..109565996)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (110668289..110694581)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110551931..110578225)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene PKHD1 like 1 Neighboring gene suppressor of cytokine signaling 5 pseudogene Neighboring gene mitogen-activated protein kinase 6 pseudogene 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:110534343-110535542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27812 Neighboring gene NANOG hESC enhancer GRCh37_chr8:110625919-110626714 Neighboring gene syntabulin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110656818-110657754 Neighboring gene SYBU antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110777616-110778116 Neighboring gene SMG5 nonsense mediated mRNA decay factor pseudogene

    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. RCAS1 decidual immunoreactivity during cesarean section in scar deciduosis: immune cell presence and activity. Skret-Magierlo J, et al. Gynecol Obstet Invest, 2008. PMID 18032910
    2. RCAS1 expression in mobile tongue squamous cell carcinoma: an immunohistochemical study. Theocharis S, et al. Med Sci Monit, 2011 Aug. PMID 21804460, Free PMC Article
    3. RCAS-1 serum and tumor levels in head and neck squamous cell carcinoma. Brunner M, et al. Eur Surg Res, 2010. PMID 20571277
    4. Role of EBAG9 protein in coat protein complex I-dependent glycoprotein maturation and secretion processes in tumor cells. Wolf J, et al. FASEB J, 2010 Oct. PMID 20570965
    5. Movement of a novel serum tumour marker, RCAS1, in patients with biliary diseases. Enjoji M, et al. Dig Liver Dis, 2004 Sep. PMID 15460847

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EBAG9 silencing exerts an immune checkpoint function without aggravating adverse effects.
      Title: EBAG9 silencing exerts an immune checkpoint function without aggravating adverse effects.
    2. Expression of CD44v6 and RCAS1 in Uterine Cervical Carcinoma Infected with Human Papillomavirus and Its Effect on Cell Proliferation and Differentiation.
      Title: Expression of CD44v6 and RCAS1 in Uterine Cervical Carcinoma Infected with Human Papillomavirus and Its Effect on Cell Proliferation and Differentiation.
    3. Studied soluble cancer-associated surface antigen (srCaS1) levels as a biomarker for survival in endometrial cancer. Found elevated serum sRCAS1 to be associated with shortened overall survival in endometrial cancer patients.
      Title: The potential predictive value of serum srCaS1 levels for overall survival in endometrial cancer.
    4. Data suggest that joint detection of receptor-binding cancer antigen expressed on SiSo cells (RCAS1) and carcinoembryonic antigen (CEA) can improve the diagnostic sensitivity and specificity.
      Title: Diagnostic value of soluble receptor-binding cancer antigen expressed on SiSo cells and carcinoembryonic antigen in differentiating malignant from benign pleural effusion.
    5. RCAS1 seems to be involved in creating tumor-induced inflammation in the tumor and its microenvironment
      Title: Analysis of the intensity of immune cell infiltration and immunoreactivity of RCAS1 in diffuse large B-cell lymphoma of the palatine tonsil and its microenvironment.
    6. High EBAG9 expression is associated with malignant pleural effusion in patients with lung cancer.
      Title: Diagnostic value of soluble receptor-binding cancer antigen expressed on SiSo cells and carcinoembryonic antigen in malignant pleural effusion in patients with lung cancer.
    7. Findings suggest that the histological effect of increased RCAS1 expression depends on its cellular source and that RCAS1 expression itself is a component of various signaling pathways in urothelial bladder cancer cells.
      Title: Expression of RCAS1 correlates with urothelial bladder cancer malignancy.
    8. Given the significant correlation between tumor ADAM9 expression and serum RCAS1 concentration in both cervical and endometrial cancer as well as the role for ADAM9 in RCAS1 shedding.
      Title: A disintegrin and metalloproteinase 9 is involved in ectodomain shedding of receptor-binding cancer antigen expressed on SiSo cells.
    9. suggests that RCAS1 has an apoptotic function via membranous/soluble expression pattern in OSCC cells. RCAS1 may thus affect tumor escape from immune surveillance in OSCC by inducing apoptosis
      Title: Apoptotic function of tumor-associated antigen RCAS1 in oral squamous cell carcinoma.
    10. RCAS1 could be a useful immunohistochemical biomarker, indicating not only tumor aggressiveness but also a poorer prognosis for patients with NSCLC.
      Title: The clinical and pathological significance of RCAS1 expression as a prognostic biomarker in non-small cell lung cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (68)

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat significantly increases the mRNA transcription levels and the secretion of soluble RCAS1 in CD4(+) T cells and monocytes. Tat-mediated apoptosis is blocked by inhibiting the expression of RCAS1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    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

    Function Evidence Code Pubs
    enables peptidase activator activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in adaptive immune memory response involving T cells and B cells IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell growth NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    receptor-binding cancer antigen expressed on SiSo cells
    Names
    cancer-associated surface antigen RCAS1
    estrogen receptor-binding fragment-associated gene 9 protein
    receptor-binding cancer antigen expressed on SiSo cells 1

    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.

    mRNA and Protein(s)

    1. NM_001278938.2 → NP_001265867.1  receptor-binding cancer antigen expressed on SiSo cells

      See identical proteins and their annotated locations for NP_001265867.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA812215, AI619447, AP000427, BC017729, BC022506, BG616704
      Consensus CDS
      CCDS6313.1
      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
      Related
      ENSP00000477645.1, ENST00000620557.4
      Conserved Domains (1) summary
      pfam07946
      Location:160 → 203
      DUF1682; Protein of unknown function (DUF1682)

    2. NM_004215.5 → NP_004206.1  receptor-binding cancer antigen expressed on SiSo cells

      See identical proteins and their annotated locations for NP_004206.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA812215, AI619447, BC022506, CD108096
      Consensus CDS
      CCDS6313.1
      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
      Related
      ENSP00000337675.5, ENST00000337573.10
      Conserved Domains (1) summary
      pfam07946
      Location:160 → 203
      DUF1682; Protein of unknown function (DUF1682)

    3. NM_198120.3 → NP_936056.1  receptor-binding cancer antigen expressed on SiSo cells

      See identical proteins and their annotated locations for NP_936056.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA812215, AI619447, BC017729, BC022506, BG707115
      Consensus CDS
      CCDS6313.1
      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
      Related
      ENSP00000379131.2, ENST00000395785.7
      Conserved Domains (1) summary
      pfam07946
      Location:160 → 203
      DUF1682; Protein of unknown function (DUF1682)

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      109539702..109565996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422413.1 → XP_047278369.1  receptor-binding cancer antigen expressed on SiSo cells isoform X1

      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
      Related
      ENSP00000514313.1, ENST00000699338.1

    2. XM_047422412.1 → XP_047278368.1  receptor-binding cancer antigen expressed on SiSo cells isoform X1

      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76

    3. XM_017013960.2 → XP_016869449.1  receptor-binding cancer antigen expressed on SiSo cells isoform X1

      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
      Conserved Domains (1) summary
      pfam07946
      Location:160 → 203
      DUF1682; Protein of unknown function (DUF1682)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      110668289..110694581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361494.1 → XP_054217469.1  receptor-binding cancer antigen expressed on SiSo cells isoform X1

      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76

    2. XM_054361493.1 → XP_054217468.1  receptor-binding cancer antigen expressed on SiSo cells isoform X1

      UniProtKB/Swiss-Prot
      A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00559.1 GenPept UniProtKB/Swiss-Prot:O00559

    Gene LinkOut

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