WIPI4 (xp11.23), JM5, NBIA4, NBIA5, WDRX1, WIPI-4, autofagiageeni, raudan käsittely hermostossa

Official Symbol

WDR45provided by HGNC

Official Full Name

WD repeat domain 45provided by HGNC

Also known as

JM5; NBIA4; NBIA5; WDRX1; WIPI4; WIPI-4

Summary

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]

Expression

Ubiquitous expression in thyroid (RPKM 16.7), adrenal (RPKM 15.8) and 25 other tissues See more

Orthologs

 

Preferred Names

WD repeat domain phosphoinositide-interacting protein 4

Names

WD repeat domain, X-linked 1

WD repeat-containing protein 45

WD45 repeat protein interacting with phosphoinositides 4

neurodegeneration with brain iron accumulation 4, NDIA4

neurodegeneration with brain iron accumulation 5, NDIA5

https://www.ncbi.nlm.nih.gov/protein/NP_001025067.1

Conserved Domains (3) summary

COG2319
Location:9 → 275

WD40; WD40 repeat [General function prediction only]

sd00039
Location:196 → 232

7WD40; WD40 repeat [structural motif]

cl29593
Location:187 → 274

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ..

 

Related articles in PubMed

1. Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants. Chen H, et al. Eur J Med Genet, 2019 Feb. PMID 29981852
2. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. Carvill GL, et al. Epilepsia, 2018 Jan. PMID 29171013, Free PMC Article
3. Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration. Takano K, et al. Eur J Med Genet, 2017 Oct. PMID 28711740
4. Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review. Morikawa M, et al. Brain Dev, 2017 Oct. PMID 28551038
5. Beta-Propeller Protein-Associated Neurodegeneration Gregory A, et al. , 1993. PMID 28211668

See all (39) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

1. Novel missense mutations in WDR45 were identified in female pediatric patients with developmental delay and/or epilepsy. Arg134Pro and p. Gly168Glu mutations showed accumulation of LC3-containing autophagic structures and enlarged cell volume in HeLa cells.
2. WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy
3. This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
4. This study showed that WDR45 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder.
5. This study showed the WDR45 mutation complicated by infantile spasms.
6. A rare male patient is reported with mutation in WDR45 and early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase.
7. Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype.
8. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy.
9. WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration.
10. Genetic analysis for WDR45 revealed that she had a splice site mutation

Submit: New GeneRIF Correction See all GeneRIFs (17)