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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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti148 – 1481C → F in SRTD11. 1 Publication
VAR_070963
Natural varianti341 – 3411A → V in SRTD11. 1 Publication
Corresponds to variant rs587777091 [ dbSNP | Ensembl ].
VAR_070965
Natural varianti354 – 3541T → M in SRTD11. 1 Publication
Corresponds to variant rs587777092 [ dbSNP | Ensembl ].
VAR_070966
Natural varianti390 – 3901P → L in SRTD11. 1 Publication
VAR_070967
Natural varianti393 – 3931G → S in SRTD11. 1 Publication
Corresponds to variant rs587777096 [ dbSNP | Ensembl ].
VAR_070968
Natural varianti410 – 4101S → I in SRTD11. 1 Publication
VAR_070969
Natural varianti436 – 4361K → R in SRTD11. 1 Publication
Corresponds to variant rs587777098 [ dbSNP | Ensembl ].
VAR_070970
Natural varianti447 – 4471R → Q in SRTD11. 1 Publication
Corresponds to variant rs587777094 [ dbSNP | Ensembl ].
VAR_070971
Natural varianti447 – 4471R → W in SRTD11. 2 Publications
Corresponds to variant rs587777093 [ dbSNP | Ensembl ].
VAR_070972

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

MalaCardsiWDR34.
MIMi615633. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 536536WD repeat-containing protein 34PRO_0000051383Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei15 – 151PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96EX3.
MaxQBiQ96EX3.
PaxDbiQ96EX3.
PeptideAtlasiQ96EX3.
PRIDEiQ96EX3.

PTM databases

iPTMnetiQ96EX3.
PhosphoSiteiQ96EX3.

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 interactions.
IntActiQ96EX3. 7 interactions.
MINTiMINT-8247555.
STRINGi9606.ENSP00000361800.

Structurei

3D structure databases

ProteinModelPortaliQ96EX3.
SMRiQ96EX3. Positions 216-308, 387-514.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati147 – 20054WD 1Add
BLAST
Repeati207 – 24741WD 2Add
BLAST
Repeati255 – 30046WD 3Add
BLAST
Repeati314 – 36754WD 4Add
BLAST
Repeati381 – 42242WD 5Add
BLAST
Repeati426 – 46540WD 6Add
BLAST
Repeati472 – 51241WD 7Add
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti60 – 601W → G in AAH11874 (PubMed:15489334).Curated
Sequence conflicti60 – 601W → G in AAH01614 (PubMed:15489334).Curated
Sequence conflicti356 – 3561G → S in AAH01614 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221A → V.1 Publication
Corresponds to variant rs201715229 [ dbSNP | Ensembl ].
VAR_070962
Natural varianti148 – 1481C → F in SRTD11. 1 Publication
VAR_070963
Natural varianti206 – 2061R → C.1 Publication
Corresponds to variant rs148543026 [ dbSNP | Ensembl ].
VAR_070964
Natural varianti341 – 3411A → V in SRTD11. 1 Publication
Corresponds to variant rs587777091 [ dbSNP | Ensembl ].
VAR_070965
Natural varianti354 – 3541T → M in SRTD11. 1 Publication
Corresponds to variant rs587777092 [ dbSNP | Ensembl ].
VAR_070966
Natural varianti390 – 3901P → L in SRTD11. 1 Publication
VAR_070967
Natural varianti393 – 3931G → S in SRTD11. 1 Publication
Corresponds to variant rs587777096 [ dbSNP | Ensembl ].
VAR_070968
Natural varianti410 – 4101S → I in SRTD11. 1 Publication
VAR_070969
Natural varianti436 – 4361K → R in SRTD11. 1 Publication
Corresponds to variant rs587777098 [ dbSNP | Ensembl ].
VAR_070970
Natural varianti447 – 4471R → Q in SRTD11. 1 Publication
Corresponds to variant rs587777094 [ dbSNP | Ensembl ].
VAR_070971
Natural varianti447 – 4471R → W in SRTD11. 2 Publications
Corresponds to variant rs587777093 [ dbSNP | Ensembl ].
VAR_070972

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.
SMRiQ96EX3. Positions 216-308, 387-514.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124640. 30 interactions.
IntActiQ96EX3. 7 interactions.
MINTiMINT-8247555.
STRINGi9606.ENSP00000361800.

PTM databases

iPTMnetiQ96EX3.
PhosphoSiteiQ96EX3.

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.
GeneCardsiWDR34.
HGNCiHGNC:28296. WDR34.
HPAiHPA040764.
HPA041091.
MalaCardsiWDR34.
MIMi613363. gene.
615633. phenotype.
neXtProtiNX_Q96EX3.
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: September 7, 2016
This is version 116 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.