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Details on Person UniProt:Q96MR6 CFAP57

Class:IdReferenceGeneProduct:254646
_chainChangeLogchain:1-1250 added on Sat February 7 2015
_displayNameUniProt:Q96MR6 CFAP57
_timestamp2025-02-21 19:16:22
chainchain:1-1250
checksumB98CB10A30D64E16
commentFUNCTION 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.SUBUNIT May form homodimers. Associates with components of the nexin-dynein regulatory complex (N-DRC) and the CFAP184:CFAP263 complex.SUBCELLULAR LOCATION Expressed in nasal epithelial cells.INDUCTION May be an IRF6-target.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the CFAP57 family.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: fullName evidence="10"Cilia- and flagella-associated protein 57 alternativeName: fullName evidence="10"WD repeat-containing protein 65
geneNameCFAP57
WDR65
identifierQ96MR6
isSequenceChangedFALSE
keyword3D-structure
Alternative splicing
Cell projection
Coiled coil
Cytoplasm
Cytoskeleton
Disease variant
Proteomics identification
Reference proteome
Repeat
WD repeat
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
nameCFAP57
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8997064] ENSEMBL:ENSG00000243710 CFAP57 [Homo sapiens]
secondaryIdentifierCFA57_HUMAN
A6NKQ3
Q17RI9
Q5TAI0
sequenceLength1250
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8967340] UniProt:Q96MR6-1 CFAP57 [Homo sapiens]
[ReferenceIsoform:8967341] UniProt:Q96MR6-2 CFAP57 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:9967064] CFAP57 [cilium] [Homo sapiens]
[EntityWithAccessionedSequence:9969171] CFAP57 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q96MR6 CFAP57 (254646)