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

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q23.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (109539702..109565996)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (110668289..110694581)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (110551931..110578225)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBAG9 silencing exerts an immune checkpoint function without aggravating adverse effects.
Title: EBAG9 silencing exerts an immune checkpoint function without aggravating adverse effects.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D8S1373E (e-PCR)
- UniSTS:151186

RH36617 (e-PCR)
- UniSTS:939

D8S1940 (e-PCR)
- UniSTS:22506

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

Go to the top of the page Help

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)

Go to the top of the page Help

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)

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)
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)
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

109539702..109565996

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
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

NC_060932.1 Alternate T2T-CHM13v2.0

Range

110668289..110694581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76
XM_054361493.1 → XP_054217468.1 receptor-binding cancer antigen expressed on SiSo cells isoform X1

UniProtKB/Swiss-Prot

A8K3N6, O00559, Q5Y8C7, Q6IB20, Q9BS76