MAGEE1 MAGE family member E1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAGEE1provided by HGNC
Official Full Name: MAGE family member E1provided by HGNC
Primary source: HGNC:HGNC:24934
See related: Ensembl:ENSG00000198934 MIM:300759; AllianceGenome:HGNC:24934
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: HCA1; DAMAGE
Summary: This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010]
Orthologs: mouse all
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Genomic context

Location:: Xq13.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (76427710..76431342)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (74861510..74865142)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (75648103..75651735)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that lipid homeostasis may be altered in carriers of selected HCA1 missense variants.
Title: Naturally occurring HCA1 missense mutations result in loss of function: potential impact on lipid deposition.
Observational study of gene-disease association. (HuGE Navigator)
Title: Frequent MAGE mutations in human melanoma.
a new dystrobrevin-associated protein that may play a signaling role in brain, muscle, and peripheral nerve
Title: DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of melanoma antigen family E, 1 (MAGEE1) in U-937 macrophages	PubMed

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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

AB060256 (e-PCR)
- UniSTS:480287

DXS9755 (e-PCR)
- UniSTS:65331

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: melanoma-associated antigen E1

Names: MAGE-E1 antigen; alpha-dystrobrevin-associated MAGE Protein; dystrobrevin-associated MAGE protein; hepatocellular carcinoma-associated HCA1; hepatocellular carcinoma-associated protein 1; melanoma antigen family E, 1; melanoma antigen family E1

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.