MAGEA5P MAGE family member A5, pseudogene [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEA5Pprovided by HGNC
Official Full Name: MAGE family member A5, pseudogeneprovided by HGNC
Primary source: HGNC:HGNC:6803
See related: MIM:300340; AllianceGenome:HGNC:6803
Gene type: pseudo
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT1.5; MAGE5; MAGEA4; MAGEA5
Summary: This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This MAGEA gene is interpreted to be a pseudogene. Read-through transcription exists between this gene and the upstream melanoma antigen family A, 10 (MAGEA10) gene. [provided by RefSeq, Dec 2020]
Expression: Low expression observed in reference dataset See more
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Genomic context

Location:: Xq28

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (152114049..152117939, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (150380137..150384022, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (151282521..151286411, complement)

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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Report MAGEA1-A6 expression in sputum suggests presence of lung cancer cells or precancerous cells.
Title: MAGE A1-A6 RT-PCR and MAGE A3 and p16 methylation analysis in induced sputum from patients with lung cancer and non-malignant lung diseases.
Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma
Title: Expression of melanoma-associated antigens in oral squamous cell carcinoma.

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 studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

GDB:581715 (e-PCR)
- UniSTS:157866

NoName (e-PCR)
- UniSTS:484030

DXS7493 (e-PCR)
- UniSTS:30164

Readthrough LOC100533997

Readthrough gene: LOC100533997, Included gene: MAGEA10

Other Names

MAGE family member A5
MAGE-5 antigen
MAGE-5a antigen
MAGE-5b antigen
cancer/testis antigen 1.5
cancer/testis antigen family 1, member 5
melanoma antigen family A, 5
melanoma antigen family A5
melanoma-associated antigen 5

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
involved_in regulation of chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info

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.

RNA

NR_171383.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AF274856

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

152114049..152117939 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

150380137..150384022 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_016417.1: Suppressed sequence

Description

NG_016417.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.
NM_021049.4: Suppressed sequence

Description

NM_021049.4: This RefSeq was removed because it is now thought that this gene is a pseudogene.