• Gene id: 348807

Gene Summary

• Gene Symbol: CFAP100   Gene   UCSC   Ensembl
• Aliases: CCDC37, MIA1
• Gene name: cilia and flagella associated protein 100
• Alternate names: cilia- and flagella-associated protein 100, coiled-coil domain containing 37, coiled-coil domain-containing protein 37,
• Gene location: 3q21.3 (126394892: 126436555)     Exons: 21     NC_000003.12
• OMIM: 601521

Protein Summary

• Protein general information: Q494V2  
  • Name: Cilia and flagella associated protein 100 (Coiled coil domain containing protein 37)
  • Length: 611  
  • Mass: 71117
• Sequence:

  MSEIPSTIVSKNMTNDKNSLESMNISSSSSTEENPKKQARKNEEHGPDPSANPFHLSGDVDFFLLRDQERNKALS
  ERQQQKTMRVHQKMTYSSKVSAKHTSLRRQLQLEDKQEDLEARAEAEHQRAFRDYTTWKLTLTKEKNVEPENMSG
  YIKQKRQMFLLQYALDVKRREIQRLETLATKEEARLERAEKSLEKDAALFDEFVRENDCSSVQAMRAAEKETKAK
  IEKILEIRDLTTQIVNIKSEISRFEDTLKHYKVYKDFLYKLSPKEWLEEQEKKHSFLKKAKEVSEASKESSVNST
  PGDKGPGIKGKASSMWAKEGQGTKKPWRFLQTMRLGRSPSYLSSPQQGSQPSESSGGDSRGSNSPIPPTQEDTDS
  DGEEPQLYFTEPQQLLDVFRELEEQNLSLIQNSQETEKTLEELSHTLKHTQIRMDREVNQLKQWVTTMMMSITKE
  EDTAAELELKARVFHFGEYKGDQQDKLLESLNCKVLDVYRHCTGTQQEANLGTVQMLTIIEHQLDELLENLEHVP
  QVKIEQAERAKEKERRIRLREEKLQMQKILQEEHLQRARARAQAEIKKKRGRTLVCRSRPPAHRIKQQSEHTLMD
  KEEEELLFFFT

• Structural information:
  • Interpro: IPR025252  
  • STRING: ENSP00000344749
• Other Databases: GeneCards:  CFAP100  Malacards:  CFAP100

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000574	regulation of microtubule motor activity	ISS	biological process
GO:0036159	inner dynein arm assembly	ISS	biological process
GO:0097545	axonemal outer doublet	ISS	cellular component
GO:0031514	motile cilium	ISS	cellular component
GO:0070840	dynein complex binding	ISS	molecular function
GO:0003341	cilium movement	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray