CFAP52 (cilia and flagella associated protein 52)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146845
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 52
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP52
Synonyms (NCBI Gene) Gene synonyms aliases
HTX10, WDR16, WDRPUH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HTX10
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [
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 15967112
GO:0005737 Component Cytoplasm IEA
GO:0031514 Component Motile cilium IEA
GO:0060271 Process Cilium assembly IBA 21873635
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
609804 16053 ENSG00000166596
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8N1V2
Protein name Cilia- and flagella-associated protein 52 (WD repeat-containing protein 16) (WD40-repeat protein up-regulated in HCC)
Protein function Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH1
PDB 7UNG , 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 54 → 97 WD domain, G-beta repeat Repeat
PF00400 WD40 101 → 141 WD domain, G-beta repeat Repeat
PF00400 WD40 451 → 489 WD domain, G-beta repeat Repeat
PF00400 WD40 534 → 573 WD domain, G-beta repeat Repeat
PF00400 WD40 577 → 615 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in respiratory cells and sperm (at protein level) (PubMed:33139725, PubMed:36191189). Highly expressed in testis (PubMed:15967112). Up-regulated in hepatocellular carcinoma (HCC) (PubMed:15967112). {ECO:0000269|PubMed:1596711
Sequence 
MDNKISPEAQVAELELDAVIGFNGHVPTGLKCHPDQEHMIYPLGCTVLIQAINTKEQNFL
QGHGNNVSCLAISRSGEYIASGQVTFMGFKADIILWDYKNRELLARLSLHKGKIEALAFS
PNDLYLVSLGGPDDGSVVVWSIAKRDAICGSPAAGLNVGNATNVIFSRCRDEMFMTAGNG
TIRVWELDLPNRKIWPTECQTGQLKRIVMSIGVDDDDSFFYLGTTTGDILKMNPRTKLLT
DVGPAKDKFSLGVSAIRCLKMGGLLVGSGAGLLVFCKSPGYKPIKKIQLQGGITSITLRG
EGHQFLVGTEESHIYRVSFTDFKETLIATCHFDAVEDIVFPFGTAELFATCAKKDIRVWH
TSSNRELLRITVPNMTCHGIDFMRDGKSIISAWNDGKIRAFAPETGRLMYVINNAHRIGV
TAIATTSDCKRVISGGGEGEVRVWQIGCQTQKLEEALKEHKSSVSCIRVKRNNEECVTAS
TDGTCIIWDLVRLRRNQMILANTLFQCVCYHPEEFQIITSGTDRKIAYWEVFDGTVIREL
EGSLSGSINGMDITQEGVHFVTGGNDHLVKVWDYNEGEVTHVGVGHSGNITRIRISPGNQ
YIVSVSADGAILRWKYPYTS
Sequence length 620
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Situs inversus Situs Inversus rs528302390, rs1596264554 25469542
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Heterotaxy, Visceral visceral heterotaxy GenCC
Situs Inversus situs inversus GenCC
Astrocytoma Astrocytoma GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 35637434
Ciliary Motility Disorders Associate 35637434
Colorectal Neoplasms Associate 23434627
Heterotaxy Syndrome Associate 25469542
Hydrocephalus Associate 25469542
Kartagener Syndrome Associate 32111882
Late Onset Disorders Associate 25469542
Situs Inversus Associate 25469542, 32111882