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Protein

WD repeat-containing protein 34

Gene

WDR34

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

Functioni

Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at 'Thr-184' and 'Thr-187' upon Il-1 beta stimulation.2 Publications

GO - Molecular functioni

  • dynein heavy chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central

GO - Biological processi

  • cilium assembly Source: GO_Central
  • intraciliary transport Source: GO_Central
  • intraciliary transport involved in cilium assembly Source: Reactome

Enzyme and pathway databases

ReactomeiR-HSA-5620924 Intraflagellar transport
SignaLinkiQ96EX3

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 34
Gene namesi
Name:WDR34
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000119333.11
HGNCiHGNC:28296 WDR34
MIMi613363 gene
neXtProtiNX_Q96EX3

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

Involvement in diseasei

Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
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:615633
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070963148C → F in SRTD11. 1 Publication1
Natural variantiVAR_070965341A → V in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777091Ensembl.1
Natural variantiVAR_070966354T → M in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777092Ensembl.1
Natural variantiVAR_070967390P → L in SRTD11. 1 Publication1
Natural variantiVAR_070968393G → S in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777096Ensembl.1
Natural variantiVAR_070969410S → I in SRTD11. 1 Publication1
Natural variantiVAR_070970436K → R in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777098Ensembl.1
Natural variantiVAR_070971447R → Q in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777094Ensembl.1
Natural variantiVAR_070972447R → W in SRTD11. 2 PublicationsCorresponds to variant dbSNP:rs587777093Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi89891
MalaCardsiWDR34
MIMi615633 phenotype
OpenTargetsiENSG00000119333
Orphaneti474 Jeune syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA134951680

Polymorphism and mutation databases

BioMutaiWDR34
DMDMi88985038

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000513831 – 536WD repeat-containing protein 34Add BLAST536

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei15PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96EX3
MaxQBiQ96EX3
PaxDbiQ96EX3
PeptideAtlasiQ96EX3
PRIDEiQ96EX3

PTM databases

iPTMnetiQ96EX3
PhosphoSitePlusiQ96EX3

Expressioni

Tissue specificityi

Expressed in several cell lines (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000119333
CleanExiHS_WDR34
ExpressionAtlasiQ96EX3 baseline and differential
GenevisibleiQ96EX3 HS

Organism-specific databases

HPAiHPA040764
HPA041091

Interactioni

Subunit structurei

Interacts (via the WD domains) with MAP3K7 and TAB3. Interacts (via WD domains) with TAB2 (via C-terminus). Interacts (via WD domains) with TRAF6 (via TRAF-type domains).1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • dynein heavy chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central

Protein-protein interaction databases

BioGridi124640, 40 interactors
CORUMiQ96EX3
IntActiQ96EX3, 16 interactors
MINTiQ96EX3
STRINGi9606.ENSP00000361800

Structurei

3D structure databases

ProteinModelPortaliQ96EX3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati147 – 200WD 1Add BLAST54
Repeati207 – 247WD 2Add BLAST41
Repeati255 – 300WD 3Add BLAST46
Repeati314 – 367WD 4Add BLAST54
Repeati381 – 422WD 5Add BLAST42
Repeati426 – 465WD 6Add BLAST40
Repeati472 – 512WD 7Add BLAST41

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU32 Eukaryota
ENOG410ZGSX LUCA
GeneTreeiENSGT00730000110228
HOGENOMiHOG000232095
HOVERGENiHBG058945
InParanoidiQ96EX3
OMAiPVYCLEF
OrthoDBiEOG091G0C26
PhylomeDBiQ96EX3
TreeFamiTF300553

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50294 WD_REPEATS_REGION, 1 hit

Sequencei

Sequence statusi: Complete.

Q96EX3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATRAQPGPL SQAGSAGVAA LATVGVASGP GPGRPGPLQD ETLGVASVPS
60 70 80 90 100
QWRAVQGIRW ETKSCQTASI ATASASAQAR NHVDAQVQTE APVPVSVQPP
110 120 130 140 150
SQYDIPRLAA FLRRVEAMVI RELNKNWQSH AFDGFEVNWT EQQQMVSCLY
160 170 180 190 200
TLGYPPAQAQ GLHVTSISWN STGSVVACAY GRLDHGDWST LKSFVCAWNL
210 220 230 240 250
DRRDLRPQQP SAVVEVPSAV LCLAFHPTQP SHVAGGLYSG EVLVWDLSRL
260 270 280 290 300
EDPLLWRTGL TDDTHTDPVS QVVWLPEPGH SHRFQVLSVA TDGKVLLWQG
310 320 330 340 350
IGVGQLQLTE GFALVMQQLP RSTKLKKHPR GETEVGATAV AFSSFDPRLF
360 370 380 390 400
ILGTEGGFPL KCSLAAGEAA LTRMPSSVPL RAPAQFTFSP HGGPIYSVSC
410 420 430 440 450
SPFHRNLFLS AGTDGHVHLY SMLQAPPLTS LQLSLKYLFA VRWSPVRPLV
460 470 480 490 500
FAAASGKGDV QLFDLQKSSQ KPTVLIKQTQ DESPVYCLEF NSQQTQLLAA
510 520 530
GDAQGTVKVW QLSTEFTEQG PREAEDLDCL AAEVAA
Length:536
Mass (Da):57,801
Last modified:February 21, 2006 - v2
Checksum:iD23C2E0055120A4C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti60W → G in AAH11874 (PubMed:15489334).Curated1
Sequence conflicti60W → G in AAH01614 (PubMed:15489334).Curated1
Sequence conflicti356G → S in AAH01614 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07096222A → V1 PublicationCorresponds to variant dbSNP:rs201715229Ensembl.1
Natural variantiVAR_070963148C → F in SRTD11. 1 Publication1
Natural variantiVAR_070964206R → C1 PublicationCorresponds to variant dbSNP:rs148543026Ensembl.1
Natural variantiVAR_070965341A → V in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777091Ensembl.1
Natural variantiVAR_070966354T → M in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777092Ensembl.1
Natural variantiVAR_070967390P → L in SRTD11. 1 Publication1
Natural variantiVAR_070968393G → S in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777096Ensembl.1
Natural variantiVAR_070969410S → I in SRTD11. 1 Publication1
Natural variantiVAR_070970436K → R in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777098Ensembl.1
Natural variantiVAR_070971447R → Q in SRTD11. 1 PublicationCorresponds to variant dbSNP:rs587777094Ensembl.1
Natural variantiVAR_070972447R → W in SRTD11. 2 PublicationsCorresponds to variant dbSNP:rs587777093Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356481 Genomic DNA No translation available.
BC001614 mRNA Translation: AAH01614.3
BC011874 mRNA Translation: AAH11874.2
CCDSiCCDS6906.2
RefSeqiNP_443076.2, NM_052844.3
UniGeneiHs.495240

Genome annotation databases

EnsembliENST00000372715; ENSP00000361800; ENSG00000119333
GeneIDi89891
KEGGihsa:89891
UCSCiuc004bvq.2 human

Similar proteinsi

Entry informationi

Entry nameiWDR34_HUMAN
AccessioniPrimary (citable) accession number: Q96EX3
Secondary accession number(s): Q5VXV4, Q9BV46
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: February 21, 2006
Last modified: March 28, 2018
This is version 130 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
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Main funding by: National Institutes of Health