• Gene id: 51439

Gene Summary

• Gene Symbol: FAM8A1   Gene   UCSC   Ensembl
• Aliases: AHCP
• Gene name: family with sequence similarity 8 member A1
• Alternate names: protein FAM8A1, Autosomal Highly Conserved Protein,
• Gene location: 6p22.3 (139965520: 139955727)     Exons: 3     NC_000023.11
• OMIM: 618409

Protein Summary

• Protein general information: Q9UBU6  
  • Name: Protein FAM8A1 (Autosomal highly conserved protein)
  • Length: 413  
  • Mass: 44123
  • Tissue specificity: Ubiquitously expressed, with a higher level of expression in testis. {ECO
• Sequence:

  MAEGPEEARGHPPGQDDGGGDHEPVPSLRGPPTTAVPCPRDDPQAEPQAPGRPTAPGLAAAAAADKLEPPRELRK
  RGEAASGSGAELQEQAGCEAPEAAAPRERPARLSAREYSRQVHEWLWQSYCGYLTWHSGLAAFPAYCSPQPSPQS
  FPSGGAAVPQAAAPPPPQLGYYNPFYFLSPGAAGPDPRTAAGISTPAPVAGLGPRAPHVQASVRATPVTRVGSAA
  PSRSPSETGRQAGREYVIPSLAHRFMAEMVDFFILFFIKATIVLSIMHLSGIKDISKFAMHYIIEEIDEDTSMED
  LQKMMVVALIYRLLVCFYEIICIWGAGGATPGKFLLGLRVVTCDTSVLIAPSRVLVIPSSNVSITTSTIRALIKN
  FSIASFFPAFITLLFFQHNRTAYDIVAGTIVVKRNGVR

• Structural information:
  • Protein Domains: (242..40-)
    (/note="RDD"-)
  • Interpro: IPR039871  IPR010432  
  • STRING: ENSP00000259963
• Other Databases: GeneCards:  FAM8A1  Malacards:  FAM8A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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