WDR35

Protein identityUniProt · HPA

UniProt accession

Q9P2L0

Gene

WDR35

Ensembl

ENSG00000118965

Chromosome

2

Canonical length

1181 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

1181 residues, UniProt reviewed canonical sequence.

>Q9P2L0|WDR35
     1  MFFYLSKKIS IPNNVKLQCV SWNKEQGFIA CGGEDGLLKV LKLETQTDDA KLRGLAAPSN
    61  LSMNQTLEGH SGSVQVVTWN EQYQKLTTSD ENGLIIVWML YKGSWIEEMI NNRNKSVVRS
   121  MSWNADGQKI CIVYEDGAVI VGSVDGNRIW GKDLKGIQLS HVTWSADSKV LLFGMANGEI
   181  HIYDNQGNFM IKMKLSCLVN VTGAISIAGI HWYHGTEGYV EPDCPCLAVC FDNGRCQIMR
   241  HENDQNPVLI DTGMYVVGIQ WNHMGSVLAV AGFQKAAMQD KDVNIVQFYT PFGEHLGTLK
   301  VPGKEISALS WEGGGLKIAL AVDSFIYFAN IRPNYKWGYC SNTVVYAYTR PDRPEYCVVF
   361  WDTKNNEKYV KYVKGLISIT TCGDFCILAT KADENHPQEE NEMETFGATF VLVLCNSIGT
   421  PLDPKYIDIV PLFVAMTKTH VIAASKEAFY TWQYRVAKKL TALEINQITR SRKEGRERIY
   481  HVDDTPSGSM DGVLDYSKTI QGTRDPICAI TASDKILIVG RESGTIQRYS LPNVGLIQKY
   541  SLNCRAYQLS LNCNSSRLAI IDISGVLTFF DLDARVTDST GQQVVGELLK LERRDVWDMK
   601  WAKDNPDLFA MMEKTRMYVF RNLDPEEPIQ TSGYICNFED LEIKSVLLDE ILKDPEHPNK
   661  DYLINFEIRS LRDSRALIEK VGIKDASQFI EDNPHPRLWR LLAEAALQKL DLYTAEQAFV
   721  RCKDYQGIKF VKRLGKLLSE SMKQAEVVGY FGRFEEAERT YLEMDRRDLA IGLRLKLGDW
   781  FRVLQLLKTG SGDADDSLLE QANNAIGDYF ADRQKWLNAV QYYVQGRNQE RLAECYYMLE
   841  DYEGLENLAI SLPENHKLLP EIAQMFVRVG MCEQAVTAFL KCSQPKAAVD TCVHLNQWNK
   901  AVELAKNHSM KEIGSLLARY ASHLLEKNKT LDAIELYRKA NYFFDAAKLM FKIADEEAKK
   961  GSKPLRVKKL YVLSALLIEQ YHEQMKNAQR GKVKGKSSEA TSALAGLLEE EVLSTTDRFT
  1021  DNAWRGAEAY HFFILAQRQL YEGCVDTALK TALHLKDYED IIPPVEIYSL LALCACASRA
  1081  FGTCSKAFIK LKSLETLSSE QKQQYEDLAL EIFTKHTSKD NRKPELDSLM EGGEGKLPTC
  1141  VATGSPITEY QFWMCSVCKH GVLAQEISHY SFCPLCHSPV G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR35 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR35.

Disease | AllUniProt

Conditions WDR35 is implicated in, by any mechanism.

• Cranioectodermal dysplasia 2 (CED2) MIM:613610
• Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) MIM:614091
• Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20) MIM:614091

Disease | GeneticClinVar

78 pathogenic / likely-pathogenic of 895 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Cranioectodermal dysplasia 2
• Short-rib thoracic dysplasia 7 with or without polydactyly
• WDR35-related disorder
• Jeune thoracic dystrophy
• Short rib-polydactyly syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.82

gnomAD pLI

0

gnomAD missense Z

0.6

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to leukemia inhibitory factor
• cilium assembly
• intraciliary retrograde transport
• intraciliary transport
• protein localization to cilium

Cellular components

• axoneme
• centrosome
• ciliary basal body
• ciliary tip
• cilium
• intraciliary transport particle A

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• WD40/YVTN repeat-like-containing domain superfamily
• WD40-repeat-containing domain superfamily
• Intraflagellar transport protein 122/121 homolog
• IFT80/172/WDR35, TPR domain
• IFT121/TULP4, N-terminal
• IFT121-like, zinc finger domain
• IFT121, second zinc finger domain
• IFT80/172/WDR35/WDR19 TPR domain
• WDR35/TULP4 N-terminal
• WD repeat protein 35
• IFT121, second beta-propeller domain
• WD repeat-containing protein 35, TPR repeats
• IFT121-like, TPR repeats
• WDR35 second beta-propeller
• WD repeat-containing protein 35, TPR repeats
• IFT121-like, TPR repeats

KeywordsUniProt

• Cell projection
• Ciliopathy
• Cilium
• Cilium biogenesis/degradation
• Craniosynostosis
• Cytoplasm
• Cytoskeleton
• Ectodermal dysplasia
• Repeat
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of WDR35 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CFAP61
• CFAP65
• IFT43
• IFT122
• TULP3