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Protein

WD repeat-containing protein 34

Gene

WDR34

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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

HGNCiHGNC:28296. WDR34.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs587777091dbSNPEnsembl.1
Natural variantiVAR_070966354T → M in SRTD11. 1 PublicationCorresponds to variant rs587777092dbSNPEnsembl.1
Natural variantiVAR_070967390P → L in SRTD11. 1 Publication1
Natural variantiVAR_070968393G → S in SRTD11. 1 PublicationCorresponds to variant rs587777096dbSNPEnsembl.1
Natural variantiVAR_070969410S → I in SRTD11. 1 Publication1
Natural variantiVAR_070970436K → R in SRTD11. 1 PublicationCorresponds to variant rs587777098dbSNPEnsembl.1
Natural variantiVAR_070971447R → Q in SRTD11. 1 PublicationCorresponds to variant rs587777094dbSNPEnsembl.1
Natural variantiVAR_070972447R → W in SRTD11. 2 PublicationsCorresponds to variant rs587777093dbSNPEnsembl.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

WithEntry#Exp.IntActNotes
COILP384323EBI-2556091,EBI-945751
TRIM54Q9BYV23EBI-2556091,EBI-2130429

Protein-protein interaction databases

BioGridi124640. 30 interactors.
IntActiQ96EX3. 16 interactors.
MINTiMINT-8247555.
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

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU32. Eukaryota.
ENOG410ZGSX. LUCA.
GeneTreeiENSGT00730000110228.
HOGENOMiHOG000232095.
HOVERGENiHBG058945.
InParanoidiQ96EX3.
OMAiDWSTEKS.
OrthoDBiEOG091G0C26.
PhylomeDBiQ96EX3.
TreeFamiTF300553.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

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 → V.1 PublicationCorresponds to variant rs201715229dbSNPEnsembl.1
Natural variantiVAR_070963148C → F in SRTD11. 1 Publication1
Natural variantiVAR_070964206R → C.1 PublicationCorresponds to variant rs148543026dbSNPEnsembl.1
Natural variantiVAR_070965341A → V in SRTD11. 1 PublicationCorresponds to variant rs587777091dbSNPEnsembl.1
Natural variantiVAR_070966354T → M in SRTD11. 1 PublicationCorresponds to variant rs587777092dbSNPEnsembl.1
Natural variantiVAR_070967390P → L in SRTD11. 1 Publication1
Natural variantiVAR_070968393G → S in SRTD11. 1 PublicationCorresponds to variant rs587777096dbSNPEnsembl.1
Natural variantiVAR_070969410S → I in SRTD11. 1 Publication1
Natural variantiVAR_070970436K → R in SRTD11. 1 PublicationCorresponds to variant rs587777098dbSNPEnsembl.1
Natural variantiVAR_070971447R → Q in SRTD11. 1 PublicationCorresponds to variant rs587777094dbSNPEnsembl.1
Natural variantiVAR_070972447R → W in SRTD11. 2 PublicationsCorresponds to variant rs587777093dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356481 Genomic DNA. Translation: CAH71407.1.
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356481 Genomic DNA. Translation: CAH71407.1.
BC001614 mRNA. Translation: AAH01614.3.
BC011874 mRNA. Translation: AAH11874.2.
CCDSiCCDS6906.2.
RefSeqiNP_443076.2. NM_052844.3.
UniGeneiHs.495240.

3D structure databases

ProteinModelPortaliQ96EX3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124640. 30 interactors.
IntActiQ96EX3. 16 interactors.
MINTiMINT-8247555.
STRINGi9606.ENSP00000361800.

PTM databases

iPTMnetiQ96EX3.
PhosphoSitePlusiQ96EX3.

Polymorphism and mutation databases

BioMutaiWDR34.
DMDMi88985038.

Proteomic databases

EPDiQ96EX3.
MaxQBiQ96EX3.
PaxDbiQ96EX3.
PeptideAtlasiQ96EX3.
PRIDEiQ96EX3.

Protocols and materials databases

DNASUi89891.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi89891.
DisGeNETi89891.
GeneCardsiWDR34.
HGNCiHGNC:28296. WDR34.
HPAiHPA040764.
HPA041091.
MalaCardsiWDR34.
MIMi613363. gene.
615633. phenotype.
neXtProtiNX_Q96EX3.
OpenTargetsiENSG00000119333.
Orphaneti474. Jeune syndrome.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
PharmGKBiPA134951680.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU32. Eukaryota.
ENOG410ZGSX. LUCA.
GeneTreeiENSGT00730000110228.
HOGENOMiHOG000232095.
HOVERGENiHBG058945.
InParanoidiQ96EX3.
OMAiDWSTEKS.
OrthoDBiEOG091G0C26.
PhylomeDBiQ96EX3.
TreeFamiTF300553.

Enzyme and pathway databases

ReactomeiR-HSA-5620924. Intraflagellar transport.
SignaLinkiQ96EX3.

Miscellaneous databases

GenomeRNAii89891.
PROiQ96EX3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119333.
CleanExiHS_WDR34.
ExpressionAtlasiQ96EX3. baseline and differential.
GenevisibleiQ96EX3. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWDR34_HUMAN
AccessioniPrimary (citable) accession number: Q96EX3
Secondary accession number(s): Q5VXV4, Q9BV46
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 15, 2004
Last sequence update: February 21, 2006
Last modified: November 30, 2016
This is version 119 of the entry and version 2 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 9
    Human chromosome 9: 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.