• Gene id: 9947

Gene Summary

• Gene Symbol: MAGEC1   Gene   UCSC   Ensembl
• Aliases: CT7, CT7.1
• Gene name: MAGE family member C1
• Alternate names: melanoma-associated antigen C1, MAGE-C1 antigen, cancer/testis antigen 7.1, cancer/testis antigen family 7, member 1, melanoma antigen family C, 1, melanoma antigen family C1,
• Gene location: Xq27.2 (141903876: 141909400)     Exons: 4     NC_000023.11
• Gene summary(Entrez): This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequenc
• OMIM: 186770

SNPs

rs2070565

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44261270T>C
NC_000021.8   g.45681153T>C|SEQ=[T/C]|GENE=DNMT3L

rs2276248

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C|SEQ=[T/C]|GENE=DNMT3L

rs7354779

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.44250887T>C
NC_000021.8   g.45670770T>C
NM_013369.3   c.832A>G
NM_013369.4   c.832A>G
NM_175867.2   c.832A>G
NM_175867.3   c.832A>G
NR_135514.1   n.75T>C
NP_037501.2   p.Arg278Gly
NP_787063.1   p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L
DNMT3L-AS1   1053728

Protein Summary

• Protein general information: O60732  
  • Name: Melanoma associated antigen C1 (Cancer/testis antigen 7.1) (CT7.1) (MAGE C1 antigen)
  • Length: 1142  
  • Mass: 123643
  • Tissue specificity: Expressed in testis and in tumors of a wide variety of histologic types.
• Sequence:

  MGDKDMPTAGMPSLLQSSSESPQSCPEGEDSQSPLQIPQSSPESDDTLYPLQSPQSRSEGEDSSDPLQRPPEGKD
  SQSPLQIPQSSPEGDDTQSPLQNSQSSPEGKDSLSPLEISQSPPEGEDVQSPLQNPASSFFSSALLSIFQSSPES
  TQSPFEGFPQSVLQIPVSAASSSTLVSIFQSSPESTQSPFEGFPQSPLQIPVSRSFSSTLLSIFQSSPERTQSTF
  EGFAQSPLQIPVSPSSSSTLLSLFQSFSERTQSTFEGFAQSSLQIPVSPSFSSTLVSLFQSSPERTQSTFEGFPQ
  SPLQIPVSSSSSSTLLSLFQSSPERTHSTFEGFPQSLLQIPMTSSFSSTLLSIFQSSPESAQSTFEGFPQSPLQI
  PGSPSFSSTLLSLFQSSPERTHSTFEGFPQSPLQIPMTSSFSSTLLSILQSSPESAQSAFEGFPQSPLQIPVSSS
  FSYTLLSLFQSSPERTHSTFEGFPQSPLQIPVSSSSSSSTLLSLFQSSPECTQSTFEGFPQSPLQIPQSPPEGEN
  THSPLQIVPSLPEWEDSLSPHYFPQSPPQGEDSLSPHYFPQSPPQGEDSLSPHYFPQSPQGEDSLSPHYFPQSPP
  QGEDSMSPLYFPQSPLQGEEFQSSLQSPVSICSSSTPSSLPQSFPESSQSPPEGPVQSPLHSPQSPPEGMHSQSP
  LQSPESAPEGEDSLSPLQIPQSPLEGEDSLSSLHFPQSPPEWEDSLSPLHFPQFPPQGEDFQSSLQSPVSICSSS
  TSLSLPQSFPESPQSPPEGPAQSPLQRPVSSFFSYTLASLLQSSHESPQSPPEGPAQSPLQSPVSSFPSSTSSSL
  SQSSPVSSFPSSTSSSLSKSSPESPLQSPVISFSSSTSLSPFSEESSSPVDEYTSSSDTLLESDSLTDSESLIES
  EPLFTYTLDEKVDELARFLLLKYQVKQPITKAEMLTNVISRYTGYFPVIFRKAREFIEILFGISLREVDPDDSYV
  FVNTLDLTSEGCLSDEQGMSQNRLLILILSIIFIKGTYASEEVIWDVLSGIGVRAGREHFAFGEPRELLTKVWVQ
  EHYLEYREVPNSSPPRYEFLWGPRAHSEVIKRKVVEFLAMLKNTVPITFPSSYKDALKDVEERAQAIIDTTDDST
  ATESASSSVMSPSFSSE

• Structural information:
  • Protein Domains: (908..110-)
    (/note="MAGE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00127"-)
  • Interpro: IPR037445  IPR041898  IPR041899  IPR002190  
  • Prosite: PS50838
  • STRING: ENSP00000285879
• Other Databases: GeneCards:  MAGEC1  Malacards:  MAGEC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881