CFAP45 (cilia and flagella associated protein 45)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25790
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 45
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP45
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC19, HTX11, NESG1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HTX11
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus NAS 10524255
GO:0005654 Component Nucleoplasm IDA
GO:0005929 Component Cilium IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605152 17229 ENSG00000213085
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 551
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Heterotaxy, Visceral heterotaxy, visceral, 11, autosomal, with male infertility GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Hyperplasia Inhibit 22140479
Nasopharyngeal Carcinoma Inhibit 22140479
Neoplasms Inhibit 22140479