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Protein

Cilia- and flagella-associated protein 251

Gene

WDR66

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

Functioni

May regulate cilium motility through its role in the assembly of the axonemal radial spokes.By similarity

GO - Biological processi

Enzyme and pathway databases

SignaLinkiQ8TBY9.

Names & Taxonomyi

Protein namesi
Recommended name:
Cilia- and flagella-associated protein 251Curated
Short name:
CFAP251Curated
Alternative name(s):
WD repeat-containing protein 66Curated
Gene namesi
Name:WDR66Imported
Synonyms:CFAP251Curated
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000158023.9.
HGNCiHGNC:28506. WDR66.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi144406.
OpenTargetsiENSG00000158023.
PharmGKBiPA142670599.

Polymorphism and mutation databases

BioMutaiWDR66.
DMDMi313104048.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002962551 – 1149Cilia- and flagella-associated protein 251Add BLAST1149

Proteomic databases

PaxDbiQ8TBY9.
PeptideAtlasiQ8TBY9.
PRIDEiQ8TBY9.

PTM databases

iPTMnetiQ8TBY9.
PhosphoSitePlusiQ8TBY9.

Expressioni

Gene expression databases

BgeeiENSG00000158023.
CleanExiHS_WDR66.
GenevisibleiQ8TBY9. HS.

Organism-specific databases

HPAiHPA039902.
HPA040005.

Interactioni

Protein-protein interaction databases

BioGridi126850. 2 interactors.
IntActiQ8TBY9. 1 interactor.
STRINGi9606.ENSP00000288912.

Structurei

3D structure databases

ProteinModelPortaliQ8TBY9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati297 – 338WD 1Add BLAST42
Repeati344 – 385WD 2Add BLAST42
Repeati391 – 433WD 3Add BLAST43
Repeati444 – 483WD 4Add BLAST40
Repeati489 – 536WD 5Add BLAST48
Repeati604 – 643WD 6Add BLAST40
Repeati647 – 686WD 7Add BLAST40
Repeati691 – 730WD 8Add BLAST40
Repeati889 – 929WD 9Add BLAST41

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi6 – 102Glu-richAdd BLAST97

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410JR21. Eukaryota.
ENOG410XQRH. LUCA.
GeneTreeiENSGT00390000013370.
HOGENOMiHOG000067979.
HOVERGENiHBG098232.
InParanoidiQ8TBY9.
OMAiICAISCH.
OrthoDBiEOG091G02BI.
PhylomeDBiQ8TBY9.
TreeFamiTF328993.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiView protein in InterPro
IPR011992. EF-hand-dom_pair.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF00400. WD40. 1 hit.
SMARTiView protein in SMART
SM00320. WD40. 9 hits.
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF50978. SSF50978. 1 hit.
SSF50998. SSF50998. 3 hits.
PROSITEiView protein in PROSITE
PS50294. WD_REPEATS_REGION. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TBY9-1) [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
MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES
60 70 80 90 100
QEEERKTGEE EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP
110 120 130 140 150
QEVTASMIRL ETQITDSQSI TSGIFPKTQR GSKSKLSLQL EDAETDELLR
160 170 180 190 200
DLSTQIEFLD LDQISPEEQQ ISSPERQPSG ELEEKTDRMP QDELGQERRD
210 220 230 240 250
LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK DKSTPVYPLT
260 270 280 290 300
MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
310 320 330 340 350
IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM
360 370 380 390 400
AMAMTHDAKY LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV
410 420 430 440 450
TFNPTNNKEL VSNSKTRAIY YAWYEERDTL AHSAPLLTEK TFNKLVGKFS
460 470 480 490 500
QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS SASTFLGFPY IKPCKLVHLQ
510 520 530 540 550
KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK LGAIRTLSFS
560 570 580 590 600
KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
610 620 630 640 650
LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL
660 670 680 690 700
GVQSLTYNPE GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS
710 720 730 740 750
FSHDSQYMAT ADRSFTVAVY MLVVRNGQRV WEYLARLRSH RKSIRSLLFG
760 770 780 790 800
VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD HLEVLDIHHT DQGCYPTCMV
810 820 830 840 850
WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG SPIEQTQVLP
860 870 880 890 900
VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
910 920 930 940 950
YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG
960 970 980 990 1000
KFYRELEDYF YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE
1010 1020 1030 1040 1050
EKIDDIFNEI KFGEYVDTGK LIDKINLPDF LKVYLNHKPP FGNTMSGIHK
1060 1070 1080 1090 1100
SFEVLGYTNS KGKKAIRRED FLRLLVTKGE HMTEEEMLDC FASLFGLNPE
1110 1120 1130 1140
GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI SEDSGQDGQ
Length:1,149
Mass (Da):129,952
Last modified:November 30, 2010 - v2
Checksum:iCFC47771F6A71BB2
GO
Isoform 2 (identifier: Q8TBY9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     925-941: VLEAAVSLGGEDLTPFY → HPGSQAPILSPSDTSRS
     942-1149: Missing.

Note: No experimental confirmation available.
Show »
Length:941
Mass (Da):106,305
Checksum:iE7651CDF6E7527B8
GO
Isoform 3 (identifier: Q8TBY9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     297-370: GHANIISCLC...LATISDAEVQ → VCRDFLPTGG...LTKQQLILIL
     371-1149: Missing.

Note: No experimental confirmation available.
Show »
Length:370
Mass (Da):42,322
Checksum:iE36F6D4BB152DC02
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti62G → GEEEEK in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti62G → GEEEEK in AAH36233 (PubMed:15489334).Curated1
Sequence conflicti189M → I in AK097102 (PubMed:14702039).Curated1
Sequence conflicti650L → F in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti650L → F in CAD38786 (PubMed:17974005).Curated1
Sequence conflicti810F → L in AAH36233 (PubMed:15489334).Curated1
Sequence conflicti870V → L in AAH28421 (PubMed:15489334).Curated1
Sequence conflicti870V → L in CAD38786 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03462361E → G. Corresponds to variant dbSNP:rs12824001Ensembl.1
Natural variantiVAR_06004466G → E. Corresponds to variant dbSNP:rs12824001Ensembl.1
Natural variantiVAR_034624383T → M. Corresponds to variant dbSNP:rs34768683Ensembl.1
Natural variantiVAR_034625445L → F. Corresponds to variant dbSNP:rs11043265Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027165297 – 370GHANI…DAEVQ → VCRDFLPTGGGVVFNVRVVF CFVSQGLTSFYHCRIFPLSL ELKASLSLETHGIVYCLSVS NQNQLTKQQLILIL in isoform 3. 1 PublicationAdd BLAST74
Alternative sequenceiVSP_027166371 – 1149Missing in isoform 3. 1 PublicationAdd BLAST779
Alternative sequenceiVSP_027167925 – 941VLEAA…LTPFY → HPGSQAPILSPSDTSRS in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_027168942 – 1149Missing in isoform 2. 1 PublicationAdd BLAST208

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC069503 Genomic DNA. No translation available.
BC028421 mRNA. Translation: AAH28421.1.
BC036233 mRNA. Translation: AAH36233.1.
AK097102 mRNA. No translation available.
AL833930 mRNA. Translation: CAD38786.1.
CCDSiCCDS41853.1. [Q8TBY9-1]
CCDS53840.1. [Q8TBY9-2]
RefSeqiNP_001171474.1. NM_001178003.1. [Q8TBY9-2]
NP_653269.3. NM_144668.5. [Q8TBY9-1]
UniGeneiHs.709837.

Genome annotation databases

EnsembliENST00000288912; ENSP00000288912; ENSG00000158023. [Q8TBY9-1]
ENST00000397454; ENSP00000380595; ENSG00000158023. [Q8TBY9-2]
GeneIDi144406.
KEGGihsa:144406.
UCSCiuc009zxk.4. human. [Q8TBY9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCF251_HUMAN
AccessioniPrimary (citable) accession number: Q8TBY9
Secondary accession number(s): C9J1W2
, Q8IYA3, Q8N898, Q8NDE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: November 30, 2010
Last modified: September 27, 2017
This is version 135 of the entry and version 2 of the sequence. See 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 12
    Human chromosome 12: 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