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FLASH GENE

Symbol

MAGEA1

contributors: mct/npt - updated : 06-04-2020

HGNC name	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)
HGNC id	6796

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system breast mammary gland   moderately   female system uterus       Homo sapiens   male system testis     highly Respiratory lung       moderately Skin/Tegument skin       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Epithelial barrier lining endometrium     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive epithelial cell Homo sapiens Reproductive spermatocyte Reproductive spermatogonia

cell lineage
cell lines	myeloma cell lines
fluid/secretion

at STAGE

Text	in oocytes, its expression terminated around birth (Gjerstorff 2007)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a MAGE domain

HOMOLOGY

Homologene

FAMILY	melanoma antigen, family A
	cancer testis antigen (CTA) family

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	identified in the nucleus and cytoplasm of spermatogonia and in primary spermatocytes but not in spermatids or Sertoli cells (Takahashi 1995)

basic FUNCTION	directing expression of antigen MZ2-E
	normal tissue antigen compartmmentalized in particular testicular cells playing an important role in the early phase of the spermatogenesis (Takahashi 1995)
	may play a role in embryonal development and tumor transformation or aspects of tumor progression
	inhibiting the activity of a SKIP-interacting transactivator
	can act as a potent transcriptional repressor
	participating in the setting of specific gene expression patterns for tumor cell growth or spermatogenesis
	with CTAG1B, are associated with highly proliferating germ cells (Gjerstorff 2007)
	MAGEA1 functions as a co-factor of TRIM31 ubiquitin-ligase
	MAGEA1, MAGEA2, MAGEA3, MAGEA5, MAGEA8 genes are crucial in maintaining normal testicular size and protecting germ cells from excessive apoptosis under genotoxic stress

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development , immunity/defense

text	recognized on a melanoma by autologous cytolytic T lymphocytes

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	binding to SKIP and by recruiting HDACs, MAGE-A1 can act as a potent transcriptional repressor
	DNA methylation has a dominant role in the epigenetic hierarchy governing MAGEA1 expression
	CTCFL and Sp1 have opposite effects on the regulation of MAGEA1 gene expression
	MAGEA1 interaction stimulates TRIM31 ubiquitin-ligase activity
	MAGEA1 reduced intracellular segment of NOTCH1 receptor (NICD1) stability by promoting the ubiquitin modification of NICD1, and interacted with FBXW7, subunit of E3 ubiquitin protein ligase complex SCF, and the latter was functionally involved in NICD1 ubiquitination and degradation
	interaction between MAGEA1 and CTCF, which is required for the binding of MAGEA1 to the CTCFL promoter and is critical for the recruitment of DNMT3A
	MAGEA1 inhibits the expression of CTCL via increased promoter methylation
	MIRLET7A1 functions as a tumor suppressor by targeting MAGEA1 in breast cancer

cell & other

REGULATION

activated by

MBD2 (up-regulate the basal activity of the promoter of MAGE proteins) (Wischniewski 2007)

repressed by

the TRD of MBD1 and MECP2 (Wischnewski 2007)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in primary breast tumor in progression, and in hepatocellular carcinoma tumoral     --other   dysregulation of expression in hematological malignanciesnot determined solely by the methylation status of the promoter region (in multiple myeloma) tumoral     --over   by promoter hypomethylation up-regulates its expression in colorectal carcinomas as well as in gastric cancers and might play a significant role in the development and progression of colorectal carcinomas (Kim 2006) tumoral     --other   MAGEA1 expression is associated with good prognosis in neuroblastoma (Grau 2009) tumoral     --over   GPC3, MAGE1A and MAGEA3 were increased with advanced tumor stage, size, and nodule numbers in Hepatocellular Carcinoma tumoral     --other   expressed in 93p100 endometrioid endometrial cancer grade 3 and 86p100 of serous and clear cell carcinomas

Susceptibility

Variant & Polymorphism

Candidate gene	aberrant methylation patterns of MAGEs CpG islands using methylation-special PCRs may be useful for diagnosis of hepatocellular carcinoma
Marker	expression of MAGEA1 genes in peripheral blood may act as a poor prognostic marker in patients with lung cancer
Therapy target
	System Type Disorder Pubmed cancer reproductive breast novel target in breast cancer clinical treatment cancer skin   MAGEA1 may be a potential therapeutic target for melanoma patients

ANIMAL & CELL MODELS