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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
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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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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

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