• Gene id: 25790

Gene Summary

• Gene Symbol: CFAP45   Gene   UCSC   Ensembl
• Aliases: CCDC19, NESG1
• Gene name: cilia and flagella associated protein 45
• Alternate names: cilia- and flagella-associated protein 45, coiled-coil domain containing 19, coiled-coil domain-containing protein 19, mitochondrial, nasopharyngeal epithelium specific protein 1 (NESG1), nasopharyngeal epithelium-specific protein 1, protein CFAP45, mitochondr,
• Gene location: 1q23.2 (159900164: 159872363)     Exons: 12     NC_000001.11
• OMIM: 300174

Protein Summary

• Protein general information: Q9UL16  
  • Name: Cilia and flagella associated protein 45 (Coiled coil domain containing protein 19) (Nasopharyngeal epithelium specific protein 1)
  • Length: 551  
  • Mass: 65730
  • Tissue specificity: Expressed in nasopharyngeal epithelium and trachea but not in esophagus, stomach, large intestine, liver, cerebrum, heart, bladder, kidney, thymus, or lung. {ECO
• Sequence:

  MPLSTAGILSSSSAASNRSRNKARYRTKAVSSEVDESLFGDIKSPAQGQSDSPIVLLRDKHTLQKTLTALGLDRK
  PETIQLITRDMVRELIVPTEDPSGESLIISPEEFERIKWASHVLTREELEARDQAFKKEKEATMDAVMTRKKIMK
  QKEMVWNNNKKLSDLEEVAKERAQNLLQRANKLRMEQEEELKDMSKIILNAKCHAIRDAQILEKQQIQKELDTEE
  KRLDQMMEVERQKSIQRQEELERKRREERIRGRRQIVEQMEKNQEERSLLAEQREQEKEQMLEYMEQLQEEDLKD
  MERRQQQKLKMQAEIKRINDENQKQKAELLAQEKLADQMVMEFTKKKMAREAEFEAEQERIRREKEKEIARLRAM
  QEKAQDYQAEQDALRAKRNQEVADREWRRKEKENARKKMETEAELRKSRLEQVAFKEHALAVQVQRDRDEFERIL
  RAQREQIEKERLEEEKKATGRLQHANELRRQVRENQQKEVQNRIATFEEGRRLKEEAQKRRERIDEIKRKKLEEL
  RATGLPEKYCIEAERKANILPATSVN

• Structural information:
  • Interpro: IPR033253  
  • STRING: ENSP00000357079
• Other Databases: GeneCards:  CFAP45  Malacards:  CFAP45

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R