CFAP57 (cilia and flagella associated protein 57)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 149465
Gene name Cilia and flagella associated protein 57
Gene symbol CFAP57
Synonyms (NCBI Gene)
SPGF95VWS2WDR65
Chromosome 1
Chromosome location 1p34.2
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0007338 Process Single fertilization IEA
GO:0036126 Component Sperm flagellum IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614259 26485 ENSG00000243710
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
32
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Primary ciliary dyskinesia Likely pathogenic rs369556067 RCV001849739
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFAP57-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs184767321, rs2545288167, rs2545088849, rs2545466435, rs143009991, rs144189781, rs140557499, rs371546643, rs528534402, rs549638533, rs74857529, rs544184490, rs202232057, rs775978346, rs142849148
View all (11 more)		 RCV003399513
RCV003408807
RCV003414190
RCV003393142
RCV003966341
RCV003956635
RCV003924096
RCV003893630
RCV003964571
RCV003982349
RCV003916870
RCV003916991
RCV003944611
RCV003947397
RCV003927201
RCV003939510
RCV003927294
RCV003939778
RCV003914544
RCV003924536
RCV003956968
RCV003952288
RCV003976973
RCV003957223
RCV003969102
RCV003966784
Hepatocellular carcinoma Likely benign rs113433068 RCV005938750
Malignant tumor of urinary bladder Likely benign rs113433068 RCV005938749
Uterine corpus endometrial carcinoma Likely benign rs113433068 RCV005938751
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 25365256
Machado Joseph Disease Associate 34871736