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Protein

Cilia- and flagella-associated protein 57

Gene

CFAP57

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

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
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:26485. CFAP57.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670598.

Polymorphism and mutation databases

BioMutaiWDR65.
DMDMi300669699.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12501250Cilia- and flagella-associated protein 57CuratedPRO_0000242653Add
BLAST

Proteomic databases

MaxQBiQ96MR6.
PaxDbiQ96MR6.
PRIDEiQ96MR6.

PTM databases

PhosphoSiteiQ96MR6.

Expressioni

Inductioni

May be an IRF6-target.

Gene expression databases

BgeeiQ96MR6.
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.
SMRiQ96MR6. Positions 36-126, 347-693.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati105 – 14844WD 1Add
BLAST
Repeati151 – 19040WD 2Add
BLAST
Repeati195 – 23339WD 3Add
BLAST
Repeati336 – 37540WD 4Add
BLAST
Repeati387 – 42640WD 5Add
BLAST
Repeati428 – 47043WD 6Add
BLAST
Repeati472 – 50736WD 7Add
BLAST
Repeati510 – 54940WD 8Add
BLAST
Repeati552 – 59140WD 9Add
BLAST
Repeati636 – 67540WD 10Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili691 – 1057367Sequence AnalysisAdd
BLAST
Coiled coili1095 – 116672Sequence AnalysisAdd
BLAST
Coiled coili1198 – 122528Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 10 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00620000088018.
HOGENOMiHOG000231280.
HOVERGENiHBG091589.
InParanoidiQ96MR6.
OrthoDBiEOG7F5112.
PhylomeDBiQ96MR6.
TreeFamiTF324236.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR011047. Quinonprotein_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]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50998. 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)LengthDescriptionGraphical viewFeature identifierActions
Isoform 2 (identifier: Q96MR6-2)
Sequence conflicti647 – 6471A → T in BAB71217 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831A → S.
Corresponds to variant rs6663799 [ dbSNP | Ensembl ].
VAR_026850
Natural varianti241 – 2411N → D.1 Publication
Corresponds to variant rs663824 [ dbSNP | Ensembl ].
VAR_026851
Natural varianti345 – 3451C → S.
Corresponds to variant rs11210805 [ dbSNP | Ensembl ].
VAR_026852
Natural varianti523 – 5231D → Y Rare variant found in a patient with Van der Woude syndrome; unknown pathological significance. 1 Publication
Corresponds to variant rs387907122 [ dbSNP | Ensembl ].
VAR_066494

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei644 – 69855MLLTF…MEEKA → VSRALSPGTQSHTCLLRALF IPSTSQCLFSLLLLSYLFIH HSLNHHLLTMNILFV in isoform 2. 2 PublicationsVSP_039520Add
BLAST
Alternative sequencei699 – 1250552Missing in isoform 2. 2 PublicationsVSP_039521Add
BLAST

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_011540795.1. [Q96MR6-1]
UniGeneiHs.527565.
Hs.735676.
Hs.738994.

Genome annotation databases

EnsembliENST00000372492; ENSP00000361570; ENSG00000243710.
ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
GeneIDi149465.
KEGGihsa:149465.
UCSCiuc001cip.2. human. [Q96MR6-2]
uc021omk.1. 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_011540795.1. [Q96MR6-1]
UniGeneiHs.527565.
Hs.735676.
Hs.738994.

3D structure databases

ProteinModelPortaliQ96MR6.
SMRiQ96MR6. Positions 36-126, 347-693.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000435310.

PTM databases

PhosphoSiteiQ96MR6.

Polymorphism and mutation databases

BioMutaiWDR65.
DMDMi300669699.

Proteomic databases

MaxQBiQ96MR6.
PaxDbiQ96MR6.
PRIDEiQ96MR6.

Protocols and materials databases

DNASUi149465.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372492; ENSP00000361570; ENSG00000243710.
ENST00000528956; ENSP00000435310; ENSG00000243710. [Q96MR6-2]
GeneIDi149465.
KEGGihsa:149465.
UCSCiuc001cip.2. human. [Q96MR6-2]
uc021omk.1. human. [Q96MR6-1]

Organism-specific databases

CTDi149465.
GeneCardsiGC01P043638.
HGNCiHGNC:26485. CFAP57.
HPAiHPA002736.
HPA028623.
MIMi614259. gene.
neXtProtiNX_Q96MR6.
PharmGKBiPA142670598.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG2319.
GeneTreeiENSGT00620000088018.
HOGENOMiHOG000231280.
HOVERGENiHBG091589.
InParanoidiQ96MR6.
OrthoDBiEOG7F5112.
PhylomeDBiQ96MR6.
TreeFamiTF324236.

Enzyme and pathway databases

SignaLinkiQ96MR6.

Miscellaneous databases

GenomeRNAii149465.
NextBioi86160.
PROiQ96MR6.
SOURCEiSearch...

Gene expression databases

BgeeiQ96MR6.
CleanExiHS_WDR65.
ExpressionAtlasiQ96MR6. baseline and differential.
GenevisibleiQ96MR6. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR011047. Quinonprotein_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]
SUPFAMiSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 2 hits.
PROSITEiPS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome."
    Rorick N.K., Kinoshita A., Weirather J.L., Peyrard-Janvid M., de Lima R.L., Dunnwald M., Shanske A.L., Moretti-Ferreira D., Koillinen H., Kere J., Mansilla M.A., Murray J.C., Goudy S.L., Schutte B.C.
    Am. J. Med. Genet. A 155:1314-1321(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ASP-241 AND TYR-523.

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: July 22, 2015
This is version 109 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

External Data

Dasty 3

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 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.