• Gene id: 28986

Gene Summary

• Gene Symbol: MAGEH1   Gene   UCSC   Ensembl
• Aliases: APR-1, APR1, MAGEH
• Gene name: MAGE family member H1
• Alternate names: melanoma-associated antigen H1, apoptosis-related protein 1, melanoma antigen family H, 1, melanoma antigen family H1, restin,
• Gene location: Xp11.21 (55452126: 55453565)     Exons: 1     NC_000023.11
• Gene summary(Entrez): This gene belongs to the non-CT (non cancer/testis) subgroup of the melanoma-associated antigen (MAGE) superfamily. The encoded protein is likely associated with apoptosis, cell cycle arrest, growth inhibition or cell differentiation. The protein may be i
• OMIM: 300548

Protein Summary

• Protein general information: Q9H213  
  • Name: Melanoma associated antigen H1 (Apoptosis related protein 1) (APR 1) (MAGE H1 antigen) (Restin)
  • Length: 219  
  • Mass: 24441
• Sequence:

  MPRGRKSRRRRNARAAEENRNNRKIQASEASETPMAASVVASTPEDDLSGPEEDPSTPEEASTTPEEASSTAQAQ
  KPSVPRSNFQGTKKSLLMSILALIFIMGNSAKEALVWKVLGKLGMQPGRQHSIFGDPKKIVTEEFVRRGYLIYKP
  VPRSSPVEYEFFWGPRAHVESSKLKVMHFVARVRNRCSKDWPCNYDWDSDDDAEVEAILNSGARGYSAP

• Structural information:
  • Protein Domains: (1..19-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR041899  IPR002190  
  • Prosite: PS50838
  • STRING: ENSP00000343706
• Other Databases: GeneCards:  MAGEH1  Malacards:  MAGEH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006915	apoptotic process	TAS	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:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881