CFAP57 (cilia and flagella associated protein 57)

Gene
Gene Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
149465
Gene name Gene Name - the full gene name approved by the HGNC.
Cilia and flagella associated protein 57
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFAP57
Synonyms (NCBI Gene) Gene synonyms aliases
SPGF95, VWS2, WDR65
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPGF95, VWS2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.2
Summary Summary of gene provided in NCBI Entrez Gene.
This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial developme
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614259 26485 ENSG00000243710
Protein
Gene Other IDs Protein Associated diseases
UniProt ID Q96MR6
Protein name Cilia- and flagella-associated protein 57 (WD repeat-containing protein 65)
Protein function Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage.
PDB 8J07
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 382 → 417 WD domain, G-beta repeat Repeat
PF00400 WD40 502 → 540 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in nasal epithelial cells. {ECO:0000269|PubMed:32764743}.
Sequence 
MSAVVAQTLHVFGLRSHVANNIFYFDEQIIIFPSGNHCVKYNVDQKWQKFIPGSEKSQGM
LALSISPNRRYLAISETVQEKPAITIYELSSIPCRKRKVLNNFDFQVQKFISMAFSPDSK
YLLAQTSPPESNLVYWLWEKQKVMAIVRIDTQNNPVYQVSFSPQDNTQVCVTGNGMFKLL
RFAEGTLKQTSFQRGEPQNYLAHTWVADDKIVVGTDTGKLFLFESGDQRWETSIMVKEPT
NGSKSLDVIQESESLIEFPPVSSPLPSYEQMVAASSHSQMSMPQVFAIAAYSKGFACSAG
PGRVLLFEKMEEKDFYRESREIRIPVDPQSNDPSQSDKQDVLCLCFSPSEETLVASTSKN
QLYSITMSLTEISKGEPAHFEYLMYPLHSAPITGLATCIRKPLIATCSLDRSIRLWNYET
NTLELFKEYQEEAYSISLHPSGHFIVVGFADKLRLMNLLIDDIRSFKEYSVRGCGECSFS
NGGHLFAAVNGNVIHVYTTTSLENISSLKGHTGKIRSIVWNADDSKLISGGTDGAVYEWN
LSTGKRETECVLKSCSYNCVTVSPDAKIIFAVGSDHTLKEIADSLILREISAFDVTYTAI
VISHSGRMMFVGTSVGTIRAMKYPLPLQKEFNEYQAHAGPITKMLLTFDDQFLLTAAEDG
CLFTWKVFDKDGRGIKREREVGFAEEVLVTKTDMEEKAQVMLELKTRVEELKMENEYQLR
LKDMNYSEKIKELTDKFIQEMESLKTKNQVLRTEKEKQDVYHHEHIEDLLDKQSRELQDM
ECCNNQKLLLEYEKYQELQLKSQRMQEEYEKQLRDNDETKSQALEELTEFYEAKLQEKTT
LLEEAQEDVRQQLREFEETKKQIEEDEDREIQDIKTKYEKKLRDEKESNLRLKGETGIMR
KKFSSLQKEIEERTNDIETLKGEQMKLQGVIKSLEKDIQGLKREIQERDETIQDKEKRIY
DLKKKNQELGKFKFVLDYKIKELKKQIEPRENEIRVMKEQIQEMEAELENFHKQNTQLEL
NITELWQKLRATDQEMRRERQKERDLEALVKRFKTDLHNCVAYIQEPRLLKEKVRGLFEK
YVQRADMVEIAGLNTDLQQEYTRQREHLERNLATLKKKVVKEGELHRTDYVRIMQENVSL
IKEINELRRELKFTRSQVYDLEAALKLTKKVRPQEVSETEPSRDMLSTAPTARLNEQEET
GRIIEMQRLEIQRLRDQIQEQEQVTGFHTLAGVRLPSLSNSEVDLEVKTN
Sequence length 1250
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ciliary dyskinesia primary ciliary dyskinesia GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 25365256
Machado Joseph Disease Associate 34871736