• Gene id: 89876

Gene Summary

• Gene Symbol: CFAP91   Gene   UCSC   Ensembl
• Aliases: AAT1, AAT1alpha, C3orf15, CaM-IP2, MAATS1, SPATA26
• Gene name: cilia and flagella associated protein 91
• Alternate names: cilia- and flagella-associated protein 91, AAT-1, AAT1-alpha, AMY-1-associating protein expressed in testis 1, MYCBP associated and testis expressed 1, MYCBP-associated, testis expressed 1, MYCBP-binding protein, MYCBP/AMY-1-associated testis-expressed protein 1,
• Gene location: 3q13.33 (119703021: 119767101)     Exons: 19     NC_000003.12
• OMIM: 609910

Protein Summary

• Protein general information: Q7Z4T9  
  • Name: Cilia and flagella associated protein 91 (CFAP91) (AMY 1 associating protein expressed in testis 1) (AAT 1) (MYCBP/AMY 1 associated testis expressed protein 1) (Protein MAATS1)
  • Length: 767  
  • Mass: 89955
  • Tissue specificity: Isoform 1 is strongly expressed in the liver. Isoform 7 is widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermat
• Sequence:

  MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRLRKVPRFKT
  MFSNLIHYPRYSLYWSKSDPVPPFISREWKGHKEKHREALRQLTTTDASFQMPKEVYEDPEVTGKNRYKYFERPF
  LPFFQQMPFNVVYAVSKAEPYTFPPTSTKHLSIPSKSTVGTQTDYRDADVQTDPYSAEYVVCQDSIPELLTLATL
  TWGRGLPAGQAEVEMIERAREKRAWEASLPALSDTSQFEKRRKMMNEMERKEWAFREQEIEKLQEIRLEVLKELL
  RKREENQNEVNMKHLNARWSKLQEGKEAKMAKIQRTHVSTIRKLVGKRKNIEGKLERRNIIKDYSDYASQVYGPL
  SRLGCFPDNNSEDFVVKNYYLNTYEGLVELESCLPDFVTQPQIRAPKPKVITTKAGFLKRAARLDYELAEVHKAL
  LDKKNKVLEVKKPPRFLQRNPIPQPRLPTPTLEMTSNEEEEMEMAVIYLQKLLRGRVVQNMMFEGKEKRLELIQE
  LRTCHALQEDEKLVKKAEKQVTLALQRQRNLHEHKVSLVENHLAGLEGRALADMFDFLSKELVRLQEERRIHAFV
  MLAERQRRVREAEESGRRQVEKQRLREEDEIFKEVVKVHHSTISSYLEDIILNTEANTAEEQARAEIEKMAEKIN
  DIAYEMESRRTYLQSEEIVAELVYSFLIPEVQKYFVKEKVRNAQRKHILAAHQIIHSYTESMVQKKLTEGEQDEA
  SNAAMLLEKETQNENNS

• Structural information:
  • Interpro: IPR026720  IPR032840  
  • STRING: ENSP00000273390
• Other Databases: GeneCards:  CFAP91  Malacards:  CFAP91

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005930	axoneme	ISS	cellular component
GO:0001536	radial spoke stalk	ISS	colocalizes with
GO:0031514	motile cilium	ISS	cellular component
GO:0003341	cilium movement	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Astheno-teratozoospermia	MIK: 32161152
Male infertility	MIK: 32161152
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
32161152	Astheno-teratozoospermia and male infertility	c.682+1G>A, 3 c.124G>C; p.(Asp42His)		167 infertile men with an MMAF phenotype	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray