• Gene id: 118924

Gene Summary

• Gene Symbol: FRA10AC1   Gene   UCSC   Ensembl
• Aliases: C10orf4, F26C11.1-like, FRA10A
• Gene name: FRA10A associated CGG repeat 1
• Alternate names: protein FRA10AC1, fragile site 10q23.3, fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1, rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1,
• Gene location: 10q23.33 (93702958: 93667882)     Exons: 9     NC_000010.11
• Gene summary(Entrez): The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the
• OMIM: 608866

Protein Summary

• Protein general information: Q70Z53  
  • Name: Protein FRA10AC1
  • Length: 315  
  • Mass: 37548
  • Tissue specificity: Ubiquitously expressed with higher expression in brain, heart, skeletal muscle, kidney and liver. {ECO
• Sequence:

  MHGHGGYDSDFSDDERCGESSKRKKRTVEDDLLLQKPFQKEKHGKVAHKQVAAELLDREEARNRRFHLIAMDAYQ
  RHTKFVNDYILYYGGKKEDFKRLGENDKTDLDVIRENHRFLWNEEDEMDMTWEKRLAKKYYDKLFKEYCIADLSK
  YKENKFGFRWRVEKEVISGKGQFFCGNKYCDKKEGLKSWEVNFGYIEHGEKRNALVKLRLCQECSIKLNFHHRRK
  EIKSKKRKDKTKKDCEESSHKKSRLSSAEEASKKKDKGHSSSKKSEDSLLRNSDEEESASESELWKGPLPETDEK
  SQEEEFDEYFQDLFL

• Structural information:
  • Interpro: IPR019129  
  • STRING: ENSP00000360488
• Other Databases: GeneCards:  FRA10AC1  Malacards:  FRA10AC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	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			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