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Aliases for WDR34 Gene

Aliases for WDR34 Gene

  • WD Repeat Domain 34 2 3
  • SRTD11 3 6
  • WD Repeat-Containing Protein 34 3
  • BA216B9.3 3
  • FAP133 3
  • DIC5 3

External Ids for WDR34 Gene

Summaries for WDR34 Gene

Entrez Gene Summary for WDR34 Gene

  • This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]

GeneCards Summary for WDR34 Gene

WDR34 (WD Repeat Domain 34) is a Protein Coding gene. Diseases associated with WDR34 include short-rib thoracic dysplasia 11 with or without polydactyly and asphyxiating thoracic dystrophy. An important paralog of this gene is WDR78.

UniProtKB/Swiss-Prot for WDR34 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WDR34 Gene

Genomics for WDR34 Gene

Genomic Location for WDR34 Gene

Start:
128,633,661 bp from pter
End:
128,656,850 bp from pter
Size:
23,190 bases
Orientation:
Minus strand

Genomic View for WDR34 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for WDR34 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WDR34 Gene

Regulatory Elements for WDR34 Gene

Proteins for WDR34 Gene

  • Protein details for WDR34 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EX3-WDR34_HUMAN
    Recommended name:
    WD repeat-containing protein 34
    Protein Accession:
    Q96EX3
    Secondary Accessions:
    • Q5VXV4
    • Q9BV46

    Protein attributes for WDR34 Gene

    Size:
    536 amino acids
    Molecular mass:
    57801 Da
    Quaternary structure:
    • 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).

neXtProt entry for WDR34 Gene

Proteomics data for WDR34 Gene at MOPED

Post-translational modifications for WDR34 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys361

Other Protein References for WDR34 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WDR34 Gene

Domains for WDR34 Gene

Gene Families for WDR34 Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for WDR34 Gene

UniProtKB/Swiss-Prot:

WDR34_HUMAN
Similarity:
  • Contains 7 WD repeats.:
    • Q96EX3
genes like me logo Genes that share domains with WDR34: view

Function for WDR34 Gene

Molecular function for WDR34 Gene

UniProtKB/Swiss-Prot Function: 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.

Gene Ontology (GO) - Molecular Function for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with WDR34: view

Phenotypes for WDR34 Gene

GenomeRNAi human phenotypes for WDR34:
genes like me logo Genes that share phenotypes with WDR34: view

miRNA for WDR34 Gene

miRTarBase miRNAs that target WDR34

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for WDR34 Gene

Localization for WDR34 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WDR34 Gene

Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, cilium axoneme. Note=Concentrates around the centrioles and basal bodies also showing axonemal staining. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WDR34 Gene COMPARTMENTS Subcellular localization image for WDR34 gene
Compartment Confidence
extracellular 2
cytoskeleton 1
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005814 centriole ISS --
GO:0005930 axoneme ISS --
GO:0036064 ciliary basal body ISS --
GO:0072372 primary cilium TAS --
genes like me logo Genes that share ontologies with WDR34: view

Pathways for WDR34 Gene

SuperPathways for WDR34 Gene

No Data Available

Gene Ontology (GO) - Biological Process for WDR34 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with WDR34: view

No data available for Pathways by source for WDR34 Gene

Transcripts for WDR34 Gene

Unigene Clusters for WDR34 Gene

WD repeat domain 34:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WDR34 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ·
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - -
SP7: - -
SP8: - - - - - -
SP9: -
SP10: - - - -
SP11: - - - - -
SP12: - -
SP13: - - -
SP14:

ExUns: 8c ^ 9
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for WDR34 Gene

GeneLoc Exon Structure for
WDR34
ECgene alternative splicing isoforms for
WDR34

Expression for WDR34 Gene

mRNA expression in normal human tissues for WDR34 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for WDR34 Gene

SOURCE GeneReport for Unigene cluster for WDR34 Gene Hs.495240

mRNA Expression by UniProt/SwissProt for WDR34 Gene

Q96EX3-WDR34_HUMAN
Tissue specificity: Expressed in several cell lines (at protein level).
genes like me logo Genes that share expressions with WDR34: view

Orthologs for WDR34 Gene

This gene was present in the common ancestor of animals.

Orthologs for WDR34 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR34 36
  • 99 (n)
  • 98.69 (a)
WDR34 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDR34 36
  • 85.07 (n)
  • 84.14 (a)
WDR34 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WDR34 36
  • 86.42 (n)
  • 87.66 (a)
WDR34 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wdr34 36
  • 81.46 (n)
  • 83.15 (a)
Wdr34 16
Wdr34 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR34 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WDR34 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wdr34 36
  • 81.56 (n)
  • 83.18 (a)
chicken
(Gallus gallus)
Aves WDR34 36
  • 65.32 (n)
  • 64.24 (a)
WDR34 37
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr34 36
  • 61.51 (n)
  • 63.97 (a)
zebrafish
(Danio rerio)
Actinopterygii dync2i1 36
  • 54.13 (n)
  • 51.83 (a)
dync2i1 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13930 37
  • 13 (a)
OneToMany
Dic61B 37
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 28 (a)
OneToOne
Species with no ortholog for WDR34:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WDR34 Gene

ENSEMBL:
Gene Tree for WDR34 (if available)
TreeFam:
Gene Tree for WDR34 (if available)

Paralogs for WDR34 Gene

Paralogs for WDR34 Gene

genes like me logo Genes that share paralogs with WDR34: view

Variants for WDR34 Gene

Sequence variations from dbSNP and Humsavar for WDR34 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs945836 -- 128,638,786(+) gggaa(C/T)agccc intron-variant
rs947182 -- 128,636,064(-) AGGAC(A/T)GGGGG intron-variant
rs947183 -- 128,636,028(-) TGCCC(C/T)TGGGA intron-variant
rs1167012 -- 128,650,815(+) acagg(A/C)gtgag intron-variant
rs1186345 -- 128,650,759(+) ttgaa(C/T)tcctg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WDR34 Gene

Variant ID Type Subtype PubMed ID
esv1002903 CNV Deletion 20482838
nsv825097 CNV Loss 20364138
esv2436971 CNV Deletion 19546169
esv2591544 CNV Loss 19546169
nsv512119 CNV Loss 21212237
nsv819298 CNV Loss 19587683
esv2677232 CNV Deletion 23128226
esv2739075 CNV Deletion 23290073
esv1498928 CNV Deletion 17803354
esv26596 CNV Gain+Loss 19812545
nsv820577 CNV Deletion 20802225
nsv825099 CNV Loss 20364138
nsv825100 CNV Loss 20364138
dgv1236n67 CNV Loss 20364138
nsv825103 CNV Loss 20364138

Relevant External Links for WDR34 Gene

HapMap Linkage Disequilibrium report
WDR34
Human Gene Mutation Database (HGMD)
WDR34

Disorders for WDR34 Gene

(1) OMIM Diseases for WDR34 Gene (613363)

UniProtKB/Swiss-Prot

WDR34_HUMAN
  • Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) [MIM:615633]: A 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. {ECO:0000269 PubMed:24183449, ECO:0000269 PubMed:24183451}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with WDR34: view

Publications for WDR34 Gene

  1. WDR34 is a novel TAK1-associated suppressor of the IL-1R/TLR3/TLR4- induced NF-kappaB activation pathway. (PMID: 19521662) Gao D. … Chen D.Y. (Cell. Mol. Life Sci. 2009) 2 3 4
  2. Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. (PMID: 24183451) Schmidts M. … Mitchison H.M. (Am. J. Hum. Genet. 2013) 2 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-I_B pathway in cilia. (PMID: 24183449) Huber C. … Cormier-Daire V. (Am. J. Hum. Genet. 2013) 3 4

Products for WDR34 Gene

Sources for WDR34 Gene

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