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Protein

WD repeat-containing protein 60

Gene

WDR60

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in ciliogenesis.1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.
SignaLinkiQ8WVS4.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 60
Gene namesi
Name:WDR60
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21862. WDR60.

Subcellular locationi

GO - Cellular componenti

  • ciliary tip Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • primary cilium Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:615503
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti749 – 7491T → M in SRTD8. 1 Publication
Corresponds to variant rs587777065 [ dbSNP | Ensembl ].
VAR_070197

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MalaCardsiWDR60.
MIMi615503. phenotype.
Orphaneti474. Jeune syndrome.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
PharmGKBiPA142670594.

Polymorphism and mutation databases

BioMutaiWDR60.
DMDMi296453073.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10661066WD repeat-containing protein 60PRO_0000242142Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei30 – 301PhosphoserineCombined sources
Modified residuei247 – 2471PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8WVS4.
MaxQBiQ8WVS4.
PaxDbiQ8WVS4.
PeptideAtlasiQ8WVS4.
PRIDEiQ8WVS4.

PTM databases

iPTMnetiQ8WVS4.
PhosphoSiteiQ8WVS4.

Expressioni

Tissue specificityi

Expressed in chondrocytes (at protein level).1 Publication

Gene expression databases

BgeeiQ8WVS4.
CleanExiHS_WDR60.
ExpressionAtlasiQ8WVS4. baseline and differential.
GenevisibleiQ8WVS4. HS.

Organism-specific databases

HPAiHPA020607.
HPA021316.

Interactioni

Protein-protein interaction databases

BioGridi120422. 15 interactions.
IntActiQ8WVS4. 7 interactions.
MINTiMINT-8247607.
STRINGi9606.ENSP00000384290.

Structurei

3D structure databases

ProteinModelPortaliQ8WVS4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati631 – 68757WD 1Add
BLAST
Repeati688 – 73245WD 2Add
BLAST
Repeati733 – 79361WD 3Add
BLAST
Repeati794 – 84855WD 4Add
BLAST
Repeati849 – 89850WD 5Add
BLAST
Repeati899 – 94446WD 6Add
BLAST
Repeati945 – 98945WD 7Add
BLAST
Repeati990 – 103445WD 8Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili83 – 12139Sequence analysisAdd
BLAST
Coiled coili410 – 43728Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 8 WD repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG1587. Eukaryota.
ENOG410XQ99. LUCA.
GeneTreeiENSGT00390000013743.
HOGENOMiHOG000154850.
HOVERGENiHBG094160.
InParanoidiQ8WVS4.
OMAiTSVNHRS.
OrthoDBiEOG71VSS9.
PhylomeDBiQ8WVS4.
TreeFamiTF329081.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.

Sequencei

Sequence statusi: Complete.

Q8WVS4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEPGKRRTKD DTWKADDLRK HLWAIQSGGS KEERKHREKK LRKESEMDLP
60 70 80 90 100
EHKEPRCRDP DQDARSRDRV AEVHTAKESP RGERDRDRQR ERRRDAKDRE
110 120 130 140 150
KEKLKEKHRE AEKSHSRGKD REKEKDRRAR KEELRQTVAH HNLLGQETRD
160 170 180 190 200
RQLLERAERK GRSVSKVRSE EKDEDSERGD EDRERRYRER KLQYGDSKDN
210 220 230 240 250
PLKYWLYKEE GERRHRKPRE PDRDNKHREK SSTREKREKY SKEKSNSFSD
260 270 280 290 300
KGEERHKEKR HKEGFHFDDE RHQSNVDRKE KSAKDEPRKR ESQNGEHRNR
310 320 330 340 350
GASSKRDGTS SQHAENLVRN HGKDKDSRRK HGHEEGSSVW WKLDQRPGGE
360 370 380 390 400
ETVEIEKEET DLENARADAY TASCEDDFED YEDDFEVCDG DDDESSNEPE
410 420 430 440 450
SREKLEELPL AQKKEIQEIQ RAINAENERI GELSLKLFQK RGRTEFEKEP
460 470 480 490 500
RTDTNSSPSR ASVCGIFVDF ASASHRQKSR TQALKQKMRS TKLLRLIDLD
510 520 530 540 550
FSFTFSLLDL PPVNEYDMYI RNFGKKNTKQ AYVQCNEDNV ERDIQTEEIE
560 570 580 590 600
TREVWTQHPG ESTVVSGGSE QRDTSDAVVM PKIDTPRLCS FLRAACQVMA
610 620 630 640 650
VLLEEDRLAA EPSWNLRAQD RALYFSDSSS QLNTSLPFLQ NRKVSSLHTS
660 670 680 690 700
RVQRQMVVSV HDLPEKSFVP LLDSKYVLCV WDIWQPSGPQ KVLICESQVT
710 720 730 740 750
CCCLSPLKAF LLFAGTAHGS VVVWDLREDS RLHYSVTLSD GFWTFRTATF
760 770 780 790 800
STDGILTSVN HRSPLQAVEP ISTSVHKKQS FVLSPFSTQE EMSGLSFHIA
810 820 830 840 850
SLDESGVLNV WVVVELPKAD IAGSISDLGL MPGGRVKLVH SALIQLGDSL
860 870 880 890 900
SHKGNEFWGT TQTLNVKFLP SDPNHFIIGT DMGLISHGTR QDLRVAPKLF
910 920 930 940 950
KPQQHGIRPV KVNVIDFSPF GEPIFLAGCS DGSIRLHQLS SAFPLLQWDS
960 970 980 990 1000
STDSHAVTGL QWSPTRPAVF LVQDDTSNIY IWDLLQSDLG PVAKQQVSPN
1010 1020 1030 1040 1050
RLVAMAAVGE PEKAGGSFLA LVLARASGSI DIQHLKRRWA APEVDECNRL
1060
RLLLQEALWP EGKLHK
Length:1,066
Mass (Da):122,571
Last modified:May 18, 2010 - v3
Checksum:iA6B4A0C3DC4CD2C2
GO

Sequence cautioni

The sequence BAA91528.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti225 – 2251N → K in AAH14491 (PubMed:15489334).Curated
Sequence conflicti292 – 2921S → F in AAH14491 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti91 – 911E → G.
Corresponds to variant rs17837851 [ dbSNP | Ensembl ].
VAR_026841
Natural varianti273 – 2731Q → R.
Corresponds to variant rs2788478 [ dbSNP | Ensembl ].
VAR_026842
Natural varianti749 – 7491T → M in SRTD8. 1 Publication
Corresponds to variant rs587777065 [ dbSNP | Ensembl ].
VAR_070197

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004863 Genomic DNA. No translation available.
AC124833 Genomic DNA. No translation available.
BC014491 mRNA. Translation: AAH14491.2.
AK001162 mRNA. Translation: BAA91528.1. Different initiation.
CCDSiCCDS47757.1.
RefSeqiNP_060521.4. NM_018051.4.
UniGeneiHs.389945.

Genome annotation databases

EnsembliENST00000407559; ENSP00000384290; ENSG00000126870.
GeneIDi55112.
KEGGihsa:55112.
UCSCiuc003woe.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004863 Genomic DNA. No translation available.
AC124833 Genomic DNA. No translation available.
BC014491 mRNA. Translation: AAH14491.2.
AK001162 mRNA. Translation: BAA91528.1. Different initiation.
CCDSiCCDS47757.1.
RefSeqiNP_060521.4. NM_018051.4.
UniGeneiHs.389945.

3D structure databases

ProteinModelPortaliQ8WVS4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120422. 15 interactions.
IntActiQ8WVS4. 7 interactions.
MINTiMINT-8247607.
STRINGi9606.ENSP00000384290.

PTM databases

iPTMnetiQ8WVS4.
PhosphoSiteiQ8WVS4.

Polymorphism and mutation databases

BioMutaiWDR60.
DMDMi296453073.

Proteomic databases

EPDiQ8WVS4.
MaxQBiQ8WVS4.
PaxDbiQ8WVS4.
PeptideAtlasiQ8WVS4.
PRIDEiQ8WVS4.

Protocols and materials databases

DNASUi55112.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000407559; ENSP00000384290; ENSG00000126870.
GeneIDi55112.
KEGGihsa:55112.
UCSCiuc003woe.5. human.

Organism-specific databases

CTDi55112.
GeneCardsiWDR60.
H-InvDBHIX0007267.
HGNCiHGNC:21862. WDR60.
HPAiHPA020607.
HPA021316.
MalaCardsiWDR60.
MIMi615462. gene.
615503. phenotype.
neXtProtiNX_Q8WVS4.
Orphaneti474. Jeune syndrome.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
PharmGKBiPA142670594.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1587. Eukaryota.
ENOG410XQ99. LUCA.
GeneTreeiENSGT00390000013743.
HOGENOMiHOG000154850.
HOVERGENiHBG094160.
InParanoidiQ8WVS4.
OMAiTSVNHRS.
OrthoDBiEOG71VSS9.
PhylomeDBiQ8WVS4.
TreeFamiTF329081.

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.
SignaLinkiQ8WVS4.

Miscellaneous databases

ChiTaRSiWDR60. human.
GenomeRNAii55112.
PROiQ8WVS4.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WVS4.
CleanExiHS_WDR60.
ExpressionAtlasiQ8WVS4. baseline and differential.
GenevisibleiQ8WVS4. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
SMARTiSM00320. WD40. 3 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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].
    Tissue: Pancreas.
  3. "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] OF 710-1066.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-247, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-30, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.
  6. Cited for: VARIANT SRTD8 MET-749, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiWDR60_HUMAN
AccessioniPrimary (citable) accession number: Q8WVS4
Secondary accession number(s): Q9NW58
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 118 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 7
    Human chromosome 7: 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.