Seroatlas · Human Serome Atlas

WDR45

WD repeat domain phosphoinositide-interacting protein 4

Also known as: JM5, NBIA5, WDRX1, WIPI4, WIPI4_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9Y484
Gene
WDR45
Ensembl
ENSG00000196998
Chromosome
X
Canonical length
360 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

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. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

360 residues, UniProt reviewed canonical sequence.

>Q9Y484|WDR45
     1  MTQQPLRGVT SLRFNQDQSC FCCAMETGVR IYNVEPLMEK GHLDHEQVGS MGLVEMLHRS
    61  NLLALVGGGS SPKFSEISVL IWDDAREGKD SKEKLVLEFT FTKPVLSVRM RHDKIVIVLK
   121  NRIYVYSFPD NPRKLFEFDT RDNPKGLCDL CPSLEKQLLV FPGHKCGSLQ LVDLASTKPG
   181  TSSAPFTINA HQSDIACVSL NQPGTVVASA SQKGTLIRLF DTQSKEKLVE LRRGTDPATL
   241  YCINFSHDSS FLCASSDKGT VHIFALKDTR LNRRSALARV GKVGPMIGQY VDSQWSLASF
   301  TVPAESACIC AFGRNTSKNV NSVIAICVDG TFHKYVFTPD GNCNREAFDV YLDICDDDDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against WDR45 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)
0.25
Highest tissue expression
199 nTPM

Expression across tissuesHPA

Tissue

  • epididymis: 199 nTPM
  • skeletal muscle: 111 nTPM
  • tongue: 82 nTPM
  • heart muscle: 77 nTPM
  • adrenal gland: 73 nTPM
  • choroid plexus: 69 nTPM

Single-cell type

  • epididymal principal cells: 364 nCPM
  • decidual stromal cells: 62 nCPM
  • plasma cells: 41 nCPM
  • parietal cells: 39 nCPM
  • breast lactating cells: 34 nCPM
  • gastric chief cells: 34 nCPM

Immune cell

  • basophil: 126 nTPM
  • non-classical monocyte: 99 nTPM
  • neutrophil: 89 nTPM
  • classical monocyte: 89 nTPM
  • NK-cell: 84 nTPM
  • eosinophil: 82 nTPM

Brain region

  • medulla oblongata: 72 nTPM
  • midbrain: 67 nTPM
  • thalamus: 67 nTPM
  • cerebral cortex: 65 nTPM
  • choroid plexus: 63 nTPM
  • basal ganglia: 62 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about WDR45.

Disease | AllUniProt

Conditions WDR45 is implicated in, by any mechanism.

  • Neurodegeneration with brain iron accumulation 5 (NBIA5) MIM:300894

Disease | GeneticClinVar

208 pathogenic / likely-pathogenic of 620 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.21
gnomAD pLI
0.99
gnomAD missense Z
2.02
DepMap mean gene effect
-0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of WDR45 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads WDR45 as an antibody target. Whether an autoantibody or antibody against WDR45 could matter depends on whether native WDR45 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

WDR45 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label WDR45 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/WDR45. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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