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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Heterotaxy, visceral, 11, autosomal, with male infertility	Pathogenic	rs2101847449, rs201144590, rs2101848342, rs2101839185	RCV001775189 RCV001775190 RCV001775191 RCV001775192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ILEOCOLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIANAL CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TETRALOGY OF FALLOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30442369		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30442369		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31125123		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	22140479	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	26928227		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30442369		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20715168, 22140479, 22997098, 24976536, 30944308		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22140479	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20715168, 22140479, 22997098, 24976536, 31125123		★☆☆☆☆ Found in Text Mining only