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Protein

Cilia- and flagella-associated protein 57

Gene

CFAP57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164012-MONOMER.
SignaLinkiQ96MR6.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 57Imported
Alternative name(s):
WD repeat-containing protein 65Imported
Gene namesi
Name:CFAP57Imported
Synonyms:WDR65Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26485. CFAP57.

Pathology & Biotechi

Organism-specific databases

DisGeNETi149465.
OpenTargetsiENSG00000243710.
PharmGKBiPA142670598.

Polymorphism and mutation databases

BioMutaiWDR65.
DMDMi300669699.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002426531 – 1250Cilia- and flagella-associated protein 57CuratedAdd BLAST1250

Proteomic databases

EPDiQ96MR6.
MaxQBiQ96MR6.
PaxDbiQ96MR6.
PeptideAtlasiQ96MR6.
PRIDEiQ96MR6.

PTM databases

iPTMnetiQ96MR6.
PhosphoSitePlusiQ96MR6.

Expressioni

Inductioni

May be an IRF6-target.

Gene expression databases

BgeeiENSG00000243710.
CleanExiHS_WDR65.
ExpressionAtlasiQ96MR6. baseline and differential.
GenevisibleiQ96MR6. HS.

Organism-specific databases

HPAiHPA002736.
HPA028623.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000435310.

Structurei

3D structure databases

ProteinModelPortaliQ96MR6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati105 – 148WD 1Add BLAST44
Repeati151 – 190WD 2Add BLAST40
Repeati195 – 233WD 3Add BLAST39
Repeati336 – 375WD 4Add BLAST40
Repeati387 – 426WD 5Add BLAST40
Repeati428 – 470WD 6Add BLAST43
Repeati472 – 507WD 7Add BLAST36
Repeati510 – 549WD 8Add BLAST40
Repeati552 – 591WD 9Add BLAST40
Repeati636 – 675WD 10Add BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili691 – 1057Sequence analysisAdd BLAST367
Coiled coili1095 – 1166Sequence analysisAdd BLAST72
Coiled coili1198 – 1225Sequence analysisAdd BLAST28

Sequence similaritiesi

Contains 10 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IEIB. Eukaryota.
ENOG410XREK. LUCA.
GeneTreeiENSGT00620000088018.
HOGENOMiHOG000231280.
HOVERGENiHBG091589.
InParanoidiQ96MR6.
PhylomeDBiQ96MR6.
TreeFamiTF324236.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 2 hits.
PROSITEiPS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MR6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAVVAQTLH VFGLRSHVAN NIFYFDEQII IFPSGNHCVK YNVDQKWQKF
60 70 80 90 100
IPGSEKSQGM LALSISPNRR YLAISETVQE KPAITIYELS SIPCRKRKVL
110 120 130 140 150
NNFDFQVQKF ISMAFSPDSK YLLAQTSPPE SNLVYWLWEK QKVMAIVRID
160 170 180 190 200
TQNNPVYQVS FSPQDNTQVC VTGNGMFKLL RFAEGTLKQT SFQRGEPQNY
210 220 230 240 250
LAHTWVADDK IVVGTDTGKL FLFESGDQRW ETSIMVKEPT NGSKSLDVIQ
260 270 280 290 300
ESESLIEFPP VSSPLPSYEQ MVAASSHSQM SMPQVFAIAA YSKGFACSAG
310 320 330 340 350
PGRVLLFEKM EEKDFYRESR EIRIPVDPQS NDPSQSDKQD VLCLCFSPSE
360 370 380 390 400
ETLVASTSKN QLYSITMSLT EISKGEPAHF EYLMYPLHSA PITGLATCIR
410 420 430 440 450
KPLIATCSLD RSIRLWNYET NTLELFKEYQ EEAYSISLHP SGHFIVVGFA
460 470 480 490 500
DKLRLMNLLI DDIRSFKEYS VRGCGECSFS NGGHLFAAVN GNVIHVYTTT
510 520 530 540 550
SLENISSLKG HTGKIRSIVW NADDSKLISG GTDGAVYEWN LSTGKRETEC
560 570 580 590 600
VLKSCSYNCV TVSPDAKIIF AVGSDHTLKE IADSLILREI SAFDVTYTAI
610 620 630 640 650
VISHSGRMMF VGTSVGTIRA MKYPLPLQKE FNEYQAHAGP ITKMLLTFDD
660 670 680 690 700
QFLLTAAEDG CLFTWKVFDK DGRGIKRERE VGFAEEVLVT KTDMEEKAQV
710 720 730 740 750
MLELKTRVEE LKMENEYQLR LKDMNYSEKI KELTDKFIQE MESLKTKNQV
760 770 780 790 800
LRTEKEKQDV YHHEHIEDLL DKQSRELQDM ECCNNQKLLL EYEKYQELQL
810 820 830 840 850
KSQRMQEEYE KQLRDNDETK SQALEELTEF YEAKLQEKTT LLEEAQEDVR
860 870 880 890 900
QQLREFEETK KQIEEDEDRE IQDIKTKYEK KLRDEKESNL RLKGETGIMR
910 920 930 940 950
KKFSSLQKEI EERTNDIETL KGEQMKLQGV IKSLEKDIQG LKREIQERDE
960 970 980 990 1000
TIQDKEKRIY DLKKKNQELG KFKFVLDYKI KELKKQIEPR ENEIRVMKEQ
1010 1020 1030 1040 1050
IQEMEAELEN FHKQNTQLEL NITELWQKLR ATDQEMRRER QKERDLEALV
1060 1070 1080 1090 1100
KRFKTDLHNC VAYIQEPRLL KEKVRGLFEK YVQRADMVEI AGLNTDLQQE
1110 1120 1130 1140 1150
YTRQREHLER NLATLKKKVV KEGELHRTDY VRIMQENVSL IKEINELRRE
1160 1170 1180 1190 1200
LKFTRSQVYD LEAALKLTKK VRPQEVSETE PSRDMLSTAP TARLNEQEET
1210 1220 1230 1240 1250
GRIIEMQRLE IQRLRDQIQE QEQVTGFHTL AGVRLPSLSN SEVDLEVKTN
Note: Gene prediction based on similarity to mouse ortholog.
Length:1,250
Mass (Da):144,961
Last modified:July 13, 2010 - v3
Checksum:iB98CB10A30D64E16
GO
Isoform 2 (identifier: Q96MR6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     644-698: MLLTFDDQFL...VTKTDMEEKA → VSRALSPGTQ...HLLTMNILFV
     699-1250: Missing.

Show »
Length:698
Mass (Da):78,164
Checksum:iF0E20EB330E81809
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q96MR6-2)
Sequence conflicti647A → T in BAB71217 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026850183A → S.Corresponds to variant rs6663799dbSNPEnsembl.1
Natural variantiVAR_026851241N → D.1 PublicationCorresponds to variant rs663824dbSNPEnsembl.1
Natural variantiVAR_026852345C → S.Corresponds to variant rs11210805dbSNPEnsembl.1
Natural variantiVAR_066494523D → Y Rare variant found in a patient with Van der Woude syndrome; unknown pathological significance. 1 PublicationCorresponds to variant rs387907122dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039520644 – 698MLLTF…MEEKA → VSRALSPGTQSHTCLLRALF IPSTSQCLFSLLLLSYLFIH HSLNHHLLTMNILFV in isoform 2. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_039521699 – 1250Missing in isoform 2. 2 PublicationsAdd BLAST552

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056562 mRNA. Translation: BAB71217.1.
AL139138, AC093420 Genomic DNA. Translation: CAI18963.1.
BC117280 mRNA. Translation: AAI17281.1.
BC117306 mRNA. Translation: AAI17307.1.
CCDSiCCDS479.1. [Q96MR6-2]
RefSeqiNP_001161437.1. NM_001167965.1. [Q96MR6-2]
NP_001182760.2. NM_001195831.2.
NP_689711.2. NM_152498.3. [Q96MR6-2]
XP_005270577.1. XM_005270520.1. [Q96MR6-1]
XP_011539095.1. XM_011540793.1. [Q96MR6-1]
XP_011539096.1. XM_011540794.1. [Q96MR6-1]
XP_011539097.1. XM_011540795.2. [Q96MR6-1]
UniGeneiHs.527565.
Hs.735676.
Hs.738994.

Genome annotation databases

EnsembliENST00000372492; ENSP00000361570; ENSG00000243710. [Q96MR6-1]
ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
GeneIDi149465.
KEGGihsa:149465.
UCSCiuc001cip.2. human. [Q96MR6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056562 mRNA. Translation: BAB71217.1.
AL139138, AC093420 Genomic DNA. Translation: CAI18963.1.
BC117280 mRNA. Translation: AAI17281.1.
BC117306 mRNA. Translation: AAI17307.1.
CCDSiCCDS479.1. [Q96MR6-2]
RefSeqiNP_001161437.1. NM_001167965.1. [Q96MR6-2]
NP_001182760.2. NM_001195831.2.
NP_689711.2. NM_152498.3. [Q96MR6-2]
XP_005270577.1. XM_005270520.1. [Q96MR6-1]
XP_011539095.1. XM_011540793.1. [Q96MR6-1]
XP_011539096.1. XM_011540794.1. [Q96MR6-1]
XP_011539097.1. XM_011540795.2. [Q96MR6-1]
UniGeneiHs.527565.
Hs.735676.
Hs.738994.

3D structure databases

ProteinModelPortaliQ96MR6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000435310.

PTM databases

iPTMnetiQ96MR6.
PhosphoSitePlusiQ96MR6.

Polymorphism and mutation databases

BioMutaiWDR65.
DMDMi300669699.

Proteomic databases

EPDiQ96MR6.
MaxQBiQ96MR6.
PaxDbiQ96MR6.
PeptideAtlasiQ96MR6.
PRIDEiQ96MR6.

Protocols and materials databases

DNASUi149465.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372492; ENSP00000361570; ENSG00000243710. [Q96MR6-1]
ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
GeneIDi149465.
KEGGihsa:149465.
UCSCiuc001cip.2. human. [Q96MR6-1]

Organism-specific databases

CTDi149465.
DisGeNETi149465.
GeneCardsiCFAP57.
HGNCiHGNC:26485. CFAP57.
HPAiHPA002736.
HPA028623.
MIMi614259. gene.
neXtProtiNX_Q96MR6.
OpenTargetsiENSG00000243710.
PharmGKBiPA142670598.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEIB. Eukaryota.
ENOG410XREK. LUCA.
GeneTreeiENSGT00620000088018.
HOGENOMiHOG000231280.
HOVERGENiHBG091589.
InParanoidiQ96MR6.
PhylomeDBiQ96MR6.
TreeFamiTF324236.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164012-MONOMER.
SignaLinkiQ96MR6.

Miscellaneous databases

GenomeRNAii149465.
PROiQ96MR6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000243710.
CleanExiHS_WDR65.
ExpressionAtlasiQ96MR6. baseline and differential.
GenevisibleiQ96MR6. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 7 hits.
[Graphical view]
SUPFAMiSSF50998. SSF50998. 2 hits.
PROSITEiPS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCFA57_HUMAN
AccessioniPrimary (citable) accession number: Q96MR6
Secondary accession number(s): A6NKQ3, Q17RI9, Q5TAI0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: July 13, 2010
Last modified: November 30, 2016
This is version 119 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.