XAGE1A X antigen family member 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: XAGE1Aprovided by HGNC
Official Full Name: X antigen family member 1Aprovided by HGNC
Primary source: HGNC:HGNC:4111
See related: Ensembl:ENSG00000204379 MIM:300742; AllianceGenome:HGNC:4111
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: CTP9; XAGE1; CT12.1; GAGED2; XAGE-1; XAGE1B; CT12.1A; CT12.1B
Summary: This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Annotation information: Note: There are two XAGE1 loci on the X chromosome. This location, previously annotated as XAGE1B, is now annotated as XAGE1A. [01 Dec 2017]
Expression: Restricted expression toward testis (RPKM 23.8) See more
Orthologs: all
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Genomic context

Location:: Xp11.22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (52495808..52500812)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (51767583..51772587)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (52238950..52243954)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia.
Title: Measurable Residual Disease Monitoring of SPAG6, ST18, PRAME, and XAGE1A Expression in Peripheral Blood May Detect Imminent Relapse in Childhood Acute Myeloid Leukemia.
High XAGE1 expression is associated with metastasis in Head and Neck Squamous Cell Carcinoma.
Title: Expression and Prognostic Relevance of GAGE1 and XAGE1 Cancer/Testis Antigens in Head and Neck Squamous Cell Carcinoma.
In patients with Colon cancer, the expression of XAGE-1 gene was related to a favorable prognosis.
Title: [Cancer-testis genes in colon cancer].
Strong immune responses to the cancer testis antigen XAGE-1b have been found in non-small cell lung cancer Caucasian patients.
Title: Immune Responses to the Cancer Testis Antigen XAGE-1b in Non Small Cell Lung Cancer Caucasian Patients.
Data indicate the involvement of immunoglobulin allotypes immunoglobulin gamma and kappa chains in immunity to a cancer-testis antigen, which has important implications for XAGE-1b-based immunotherapeutic interventions in lung adenocarcinoma.
Title: Genetic variants of immunoglobulin γ and κ chains influence humoral immunity to the cancer-testis antigen XAGE-1b (GAGED2a) in patients with non-small cell lung cancer.
Our results suggest that GAGE, XAGE1 and SSX4 might each have a role in melanoma progression
Title: Effects of CT-Xp gene knock down in melanoma cell lines.
the XAGE-1b gene was expressed at the mRNA level in a proportion of human acute leukemia
Title: mRNA expression of the XAGE-1 gene in human acute leukemia.
XAGE-1b gene was able to influence angiogenesis directly or indirectly, leading to tumorigenesis and metastasis of ACC.
Title: Promoting effects on the proliferation and metastasis of ACC tumor cell with XAGE-1b overexpression.
The findings suggest that XAGE-1b and HLA class I expression elicited a CD8+ T-cell response against minimal residual disease after surgery and resulted in prolonged survival of non-small cell lung cancer patients.
Title: Prolonged survival of patients with lung adenocarcinoma expressing XAGE-1b and HLA class I antigens.
A 12-mer peptide XAGE-1b(37-48) as a new XAGE-1b epitope restricted to HLA-DRB1*0410 was identified.
Title: HLA-DRB1*0410-restricted recognition of XAGE-1b37-48 peptide by CD4 T cells.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: X antigen family member 1

Names: G antigen family D member 2; G antigen, family D, 2; X antigen family member 1B; cancer/testis antigen 12.1; cancer/testis antigen family 12, member 1a; cancer/testis antigen family 12, member 1b; cancer/testis associated protein; protein XAGE-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)

NM_001097594.3 → NP_001091063.2 X antigen family member 1 isoform a

See identical proteins and their annotated locations for NP_001091063.2

Status: REVIEWED

Description

Transcript Variant: This variant (a, also known as XAGE-1a) encodes the longer isoform (a, also known as isoform XAGE-1b). This variant also includes a major downstream transcription start site, which results in the variant referred to as XAGE-1b in the literature. Both XAGE-1a and XAGE-1b encode the same isoform. This RefSeq contains an in-frame start site 65 codons upstream from the currently annotated site but is not being annotated as a start site since it is in a weak Kozak sequence context and experimental evidence indicates that the downstream AUG is used. (PMID: 12479262 and PMID: 17335148)

Source sequence(s)

BX510359

Consensus CDS

CCDS75982.1

UniProtKB/Swiss-Prot

A6NJ94, Q5JPN8, Q5JPP0, Q5JPP3, Q8WWG5, Q8WWG6, Q969J6, Q9HD64

Related

ENSP00000364752.1, ENST00000375602.2

Conserved Domains (1) summary

pfam05831
Location:55 → 75

GAGE; GAGE protein
NM_001097596.3 → NP_001091065.1 X antigen family member 1 isoform d

See identical proteins and their annotated locations for NP_001091065.1

Status: REVIEWED

Description

Transcript Variant: This variant (d, also known as XAGE-1d) starts at a downstream transcription start site, and uses an alternate splice site in an internal exon that causes a frameshift in the 3' coding region, compared to variant a. The encoded isoform (d) has a distinct and shorter C-terminus, compared to isoform a.

Source sequence(s)

BX510359

Consensus CDS

CCDS75983.1

UniProtKB/Swiss-Prot

Q9HD64

Related

ENSP00000364750.1, ENST00000375600.5

RNA

NR_033254.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (c, also known as XAGE-1c) differs in the 5'-most exon, compared to variant a. This variant is represented as non-coding due to the presence of two upstream ORFs that inhibit translation of the primary ORF, as indicated by experimental evidence in PMID:17335148.

Source sequence(s)

BX510359

Related

ENST00000375595.8

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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

52495808..52500812

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029748.2 → XP_016885237.1 X antigen family member 1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

51767583..51772587

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327619.1 → XP_054183594.1 X antigen family member 1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001097591.1: Suppressed sequence

Description

NM_001097591.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
NM_001097592.2: Suppressed sequence

Description

NM_001097592.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.
NM_001097593.2: Suppressed sequence

Description

NM_001097593.2: This RefSeq was permanently suppressed because it is a redundant RefSeq for this XAGE1 family member.
NM_001097595.1: Suppressed sequence

Description

NM_001097595.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.