• Gene id: 54682

Gene Summary

• Gene Symbol: MANSC1   Gene   UCSC   Ensembl
• Aliases: 9130403P13Rik, LOH12CR3
• Gene name: MANSC domain containing 1
• Alternate names: MANSC domain-containing protein 1, loss of heterozygosity 12 chromosomal region 3 protein,
• Gene location: 12p13.2 (12350241: 12326055)     Exons: 5     NC_000012.12
• OMIM: 162340

Protein Summary

• Protein general information: Q9H8J5  
  • Name: MANSC domain containing protein 1 (Loss of heterozygosity 12 chromosomal region 3 protein)
  • Length: 431  
  • Mass: 46810
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MFFGGEGSLTYTLVIICFLTLRLSASQNCLKKSLEDVVIDIQSSLSKGIRGNEPVYTSTQEDCINSCCSTKNISG
  DKACNLMIFDTRKTARQPNCYLFFCPNEEACPLKPAKGLMSYRIITDFPSLTRNLPSQELPQEDSLLHGQFSQAV
  TPLAHHHTDYSKPTDISWRDTLSQKFGSSDHLEKLFKMDEASAQLLAYKEKGHSQSSQFSSDQEIAHLLPENVSA
  LPATVAVASPHTTSATPKPATLLPTNASVTPSGTSQPQLATTAPPVTTVTSQPPTTLISTVFTRAAATLQAMATT
  AVLTTTFQAPTDSKGSLETIPFTEISNLTLNTGNVYNPTALSMSNVESSTMNKTASWEGREASPGSSSQGSVPEN
  QYGLPFEKWLLIGSLLFGVLFLVIGLVLLGRILSESLRRKRYSRLDYLINGIYVDI

• Structural information:
  • Protein Domains: (33..11-)
    (/note="MANSC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00341"-)
  • Interpro: IPR013980  IPR011106  
  • Prosite: PS50986
  • STRING: ENSP00000438205
• Other Databases: GeneCards:  MANSC1  Malacards:  MANSC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

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