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WDR45 WD repeat domain 45 [ Homo sapiens (human) ]

Gene ID: 11152, updated on 14-Apr-2018
Official Symbol
WDR45provided by HGNC
Official Full Name
WD repeat domain 45provided by HGNC
Primary source
HGNC:HGNC:28912
See related
Ensembl:ENSG00000196998 MIM:300526; Vega:OTTHUMG00000034500
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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
Location:
Xp11.23
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (49074433..49101121, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48932092..48958059, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 120 Neighboring gene PRA1 domain family member 2 Neighboring gene RNA, U4 small nuclear 52, pseudogene Neighboring gene G-patch domain and KOW motifs Neighboring gene uncharacterized LOC105373195 Neighboring gene RNA, 7SL, cytoplasmic 262, pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Macroautophagy, organism-specific biosystem (from REACTOME)
    Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
autophagy of nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
protein lipidation IBA
Inferred from Biological aspect of Ancestor
more info
 
protein localization to phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
extrinsic component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
phagophore assembly site membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
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
neurodegeneration with brain iron accumulation 5

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033004.1 RefSeqGene

    Range
    5001..30968
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001029896.1NP_001025067.1  WD repeat domain phosphoinositide-interacting protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001025067.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR and lacks a 3-nt segment in the CDS, as compared to variant 1. The encoded isoform 2 thus lacks an internal amino acid, as compared to isoform 1.
    Source sequence(s)
    AJ005897, BC035979, BQ068083
    Consensus CDS
    CCDS35250.1
    UniProtKB/Swiss-Prot
    Q9Y484
    UniProtKB/TrEMBL
    A0A024QYX1
    Related
    ENSP00000365551.3, OTTHUMP00000032409, ENST00000376372.8, OTTHUMT00000083418
    Conserved Domains (2) summary
    sd00039
    Location:196232
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:187274
    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 ...
  2. NM_007075.3NP_009006.2  WD repeat domain phosphoinositide-interacting protein 4 isoform 1

    See identical proteins and their annotated locations for NP_009006.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents a longer transcript and encodes a longer isoform (1).
    Source sequence(s)
    AF196779, BC035979, BC069206
    Consensus CDS
    CCDS14318.1
    UniProtKB/Swiss-Prot
    Q9Y484
    Related
    ENSP00000348848.3, OTTHUMP00000216333, ENST00000356463.7, OTTHUMT00000083427
    Conserved Domains (2) summary
    sd00039
    Location:197233
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:8265
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    49074433..49101121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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