• Gene id: 9848

Gene Summary

• Gene Symbol: MFAP3L   Gene   UCSC   Ensembl
• Aliases: NYD-sp9
• Gene name: microfibril associated protein 3 like
• Alternate names: microfibrillar-associated protein 3-like, microfi brillar-associated protein 3-like, microfibrillar associated protein 3 like, testis development protein NYD-SP9,
• Gene location: 4q33 (170033002: 169986601)     Exons: 12     NC_000004.12
• OMIM: 616523

Protein Summary

• Protein general information: O75121  
  • Name: Microfibrillar associated protein 3 like (Testis development protein NYD SP9)
  • Length: 409  
  • Mass: 45380
  • Tissue specificity: Highly expressed in testis. {ECO
• Sequence:

  MDRLKSHLTVCFLPSVPFLILVSTLATAKSVTNSTLNGTNVVLGSVPVIIARTDHIIVKEGNSALINCSVYGIPD
  PQFKWYNSIGKLLKEEEDEKERGGGKWQMHDSGLLNITKVSFSDRGKYTCVASNIYGTVNNTVTLRVIFTSGDMG
  VYYMVVCLVAFTIVMVLNITRLCMMSSHLKKTEKAINEFFRTEGAEKLQKAFEIAKRIPIITSAKTLELAKVTQF
  KTMEFARYIEELARSVPLPPLIMNCRTIMEEIMEVVGLEEQGQNFVRHTPEGQEAADRDEVYTIPNSLKRSDSPA
  ADSDASSLHEQPQQIAIKVSVHPQSKKEHADDQEGGQFEVKDVEETELSAEHSPETAEPSTDVTSTELTSEEPTP
  VEVPDKVLPPAYLEATEPAVTHDKNTCIIYESHV

• Structural information:
  • Protein Domains: (47..14-)
    (/note="Ig-like-C2-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR013098  IPR003599   IPR003598  IPR039696  
  • Prosite: PS50835
  • STRING: ENSP00000354583
• Other Databases: GeneCards:  MFAP3L  Malacards:  MFAP3L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component

Diseases

Associated diseases	References
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)