CFAP45 (cilia and flagella associated protein 45)

Gene

• Entrez ID: 25790
• Gene name: Cilia and flagella associated protein 45
• Gene symbol: CFAP45
• Synonyms (NCBI Gene): CCDC19, HTX11, NESG1
• Chromosome: 1
• Chromosome location: 1q23.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 33139725
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	NAS	10524255
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005879	Component	Axonemal microtubule	ISS
GO:0005929	Component	Cilium	IDA	31429579
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	33139725
GO:0016208	Function	AMP binding	IDA	33139725
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	33139725
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	IDA	31429579
GO:0036126	Component	Sperm flagellum	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IEA
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0061966	Process	Establishment of left/right asymmetry	IMP	33139725
GO:0090660	Process	Cerebrospinal fluid circulation	IEA
GO:0097728	Component	9+0 motile cilium	IEA
GO:0097729	Component	9+2 motile cilium	IDA	33139725
GO:0099513	Component	Polymeric cytoskeletal fiber	IEA
GO:0160112	Component	Axonemal B tubule inner sheath	IEA
GO:0160112	Component	Axonemal B tubule inner sheath	ISS

Other IDs

• MIM: 605152
• HGNC: 17229
• e!Ensembl: ENSG00000213085

Protein

• UniProt ID: Q9UL16
• Protein name: Cilia- and flagella-associated protein 45 (Coiled-coil domain-containing protein 19) (Nasopharyngeal epithelium-specific protein 1)
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). It is an AMP-binding protein that may facilitate dynein ATPase-dependent cil
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13868	TPH	184 → 532	Trichohyalin-plectin-homology domain	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in respiratory cells and in sperm (at protein level) (PubMed:33139725). Expressed in nasopharyngeal epithelium and trachea (PubMed:10524255). {ECO:0000269|PubMed:10524255, ECO:0000269|PubMed:33139725}.
• Sequence:

  MPLSTAGILSSSSAASNRSRNKARYRTKAVSSEVDESLFGDIKSPAQGQSDSPIVLLRDK
  HTLQKTLTALGLDRKPETIQLITRDMVRELIVPTEDPSGESLIISPEEFERIKWASHVLT
  REELEARDQAFKKEKEATMDAVMTRKKIMKQKEMVWNNNKKLSDLEEVAKERAQNLLQRA
  NKLRMEQEEELKDMSKIILNAKCHAIRDAQILEKQQIQKELDTEEKRLDQMMEVERQKSI
  QRQEELERKRREERIRGRRQIVEQMEKNQEERSLLAEQREQEKEQMLEYMEQLQEEDLKD
  MERRQQQKLKMQAEIKRINDENQKQKAELLAQEKLADQMVMEFTKKKMAREAEFEAEQER
  IRREKEKEIARLRAMQEKAQDYQAEQDALRAKRNQEVADREWRRKEKENARKKMETEAEL
  RKSRLEQVAFKEHALAVQVQRDRDEFERILRAQREQIEKERLEEEKKATGRLQHANELRR
  QVRENQQKEVQNRIATFEEGRRLKEEAQKRRERIDEIKRKKLEELRATGLPEKYCIEAER
  KANILPATSVN

• Sequence length: 551

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Heterotaxy, visceral, 11, autosomal, with male infertility	Pathogenic	rs2101847449, rs201144590, rs2101848342, rs2101839185	RCV001775189 RCV001775190 RCV001775191 RCV001775192

Associations from Text Mining
Disease Name	Relationship Type	References
Hyperplasia	Inhibit	22140479
Nasopharyngeal Carcinoma	Inhibit	22140479
Neoplasms	Inhibit	22140479