• Gene id: 4102

Gene Summary

• Gene Symbol: MAGEA3   Gene   UCSC   Ensembl
• Aliases: CT1.3, HIP8, HYPD, MAGE3, MAGEA6
• Gene name: MAGE family member A3
• Alternate names: melanoma-associated antigen 3, MAGE-3 antigen, antigen MZ2-D, cancer/testis antigen 1.3, cancer/testis antigen family 1, member 3, melanoma antigen family A, 3, melanoma antigen family A3,
• Gene location: Xq28 (152698741: 152702346)     Exons: 6     NC_000023.11
• Gene summary(Entrez): 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 thi
• OMIM: 136510

Protein Summary

• Protein general information: P43357  
  • Name: Melanoma associated antigen 3 (Antigen MZ2 D) (Cancer/testis antigen 1.3) (CT1.3) (MAGE 3 antigen)
  • Length: 314  
  • Mass: 34747
  • Tissue specificity: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes and placenta. Never expressed in kidney tumors, Leukem
• Sequence:

  MPLEQRSQHCKPEEGLEARGEALGLVGAQAPATEEQEAASSSSTLVEVTLGEVPAAESPDPPQSPQGASSLPTTM
  NYPLWSQSYEDSSNQEEEGPSTFPDLESEFQAALSRKVAELVHFLLLKYRAREPVTKAEMLGSVVGNWQYFFPVI
  FSKASSSLQLVFGIELMEVDPIGHLYIFATCLGLSYDGLLGDNQIMPKAGLLIIVLAIIAREGDCAPEEKIWEEL
  SVLEVFEGREDSILGDPKKLLTQHFVQENYLEYRQVPGSDPACYEFLWGPRALVETSYVKVLHHMVKISGGPHIS
  YPPLHEWVLREGEE

• Structural information:
  • Protein Domains: (109..30-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR021072  IPR041898  IPR041899  IPR030097   IPR002190  
  • Prosite: PS50838
  • PDB: 1QEW 4V0P 5BRZ
  • PDBsum: 1QEW 4V0P 5BRZ
  • DIP: 44886
  • STRING: ENSP00000473093
• Other Databases: GeneCards:  MAGEA3  Malacards:  MAGEA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0089720	caspase binding	IDA	molecular function
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	biological process
GO:0010955	negative regulation of protein processing	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Globozoospermia	MIK: 31985809

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31985809	Globozoospermia	p.(Leu201Phe)		16 infertile patients	Male infertility	NGS