• Gene id: 9130

Gene Summary

• Gene Symbol: FAM50A   Gene   UCSC   Ensembl
• Aliases: 9F, DXS9928E, HXC-26, HXC26, XAP5
• Gene name: family with sequence similarity 50 member A
• Alternate names: protein FAM50A, protein XAP-5,
• Gene location: Xq28 (154444140: 154450653)     Exons: 13     NC_000023.11
• Gene summary(Entrez): This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional
• OMIM: 615477

Protein Summary

• Protein general information: Q14320  
  • Name: Protein FAM50A (Protein HXC 26) (Protein XAP 5)
  • Length: 339  
  • Mass: 40242
  • Tissue specificity: Expressed in all tissues examined. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine. {ECO
• Sequence:

  MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAELKSSTVGLVTLNDMKA
  KQEALVKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSLSFTLEEEEEGGEEEEEAAMYEEEMEREEIT
  TKKRKLGKNPDVDTSFLPDRDREEEENRLREELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQ
  FLQKALEILRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDE
  SHAGKVVLRSWYEKNKHIFPASRWEPYDPEKKWDKYTIR

• Structural information:
  • Interpro: IPR007005  
  • STRING: ENSP00000377225
• Other Databases: GeneCards:  FAM50A  Malacards:  FAM50A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0007283	spermatogenesis	NAS	biological process

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