WDR73

Protein identityUniProt · HPA

UniProt accession

Q6P4I2

Gene

WDR73

Ensembl

ENSG00000177082

Chromosome

15

Canonical length

378 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Canonical amino-acid sequenceUniProt

378 residues, UniProt reviewed canonical sequence.

>Q6P4I2|WDR73
     1  MDPGDDWLVE SLRLYQDFYA FDLSGATRVL EWIDDKGVFV AGYESLKKNE ILHLKLPLRL
    61  SVKENKGLFP ERDFKVRHGG FSDRSIFDLK HVPHTRLLVT SGLPGCYLQV WQVAEDSDVI
   121  KAVSTIAVHE KEESLWPRVA VFSTLAPGVL HGARLRSLQV VDLESRKTTY TSDVSDSEEL
   181  SSLQVLDADT FAFCCASGRL GLVDTRQKWA PLENRSPGPG SGGERWCAEV GSWGQGPGPS
   241  IASLGSDGRL CLLDPRDLCH PVSSVQCPVS VPSPDPELLR VTWAPGLKNC LAISGFDGTV
   301  QVYDATSWDG TRSQDGTRSQ VEPLFTHRGH IFLDGNGMDP APLVTTHTWH PCRPRTLLSA
   361  TNDASLHVWD WVDLCAPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR73 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)

0.26

Highest tissue expression

9.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR73.

Disease | AllUniProt

Conditions WDR73 is implicated in, by any mechanism.

• Galloway-Mowat syndrome 1 (GAMOS1) MIM:251300

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 291 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Galloway-Mowat syndrome 1
• Nephrotic syndrome
• Inborn genetic diseases
• WDR73-related disorder
• Dystonic disorder

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)

1.26

gnomAD pLI

0

gnomAD missense Z

-0.46

DepMap mean gene effect

-0.58

DepMap dependency class

common

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

• cytoplasmic microtubule organization
• nucleus organization

Molecular functions

• protein-macromolecule adaptor activity

Cellular components

• cleavage furrow
• cytoplasm
• spindle pole

Protein domainsUniProt · Pfam · InterPro

• WD40 repeat
• WD40/YVTN repeat-like-containing domain superfamily
• WD40-repeat-containing domain superfamily
• WD repeat-containing protein 73

KeywordsUniProt

• Cytoplasm
• Cytoskeleton
• Epilepsy
• Intellectual disability
• Repeat
• WD repeat

InteractionsUniProt · HPA

Protein binding partners of WDR73 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• INTS11
• INTS9