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

    Gene ID: 11152, updated on 11-Apr-2024

    Summary

    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; AllianceGenome:HGNC:28912
    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
    NEW
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    Genomic context

    See WDR45 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (49074442..49101178, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (48486169..48512926, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48932101..48958116, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20833 Neighboring gene coiled-coil domain containing 120 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20834 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:48934848-48936047 Neighboring gene Sharpr-MPRA regulatory region 1999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20835 Neighboring gene PRA1 domain family member 2 Neighboring gene RNA, U4 small nuclear 52, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29628 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48974390-48974501 Neighboring gene G-patch domain and KOW motifs Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48979755-48980408 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48980409-48981062 Neighboring gene uncharacterized LOC105373195 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1004 Neighboring gene CRISPRi-validated cis-regulatory element chrX.1005 Neighboring gene RNA, 7SL, cytoplasmic 262, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylinositol-3,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy of mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in autophagy of peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glycophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nucleophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of autophagosome assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein lipidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to phagophore assembly site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extrinsic component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in phagophore assembly site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in phagophore assembly site membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033004.2 RefSeqGene

      Range
      26284..31729
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001029896.2NP_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
      A6NGH5, B7WPI2, Q5MNZ5, Q6IBS7, Q6NT94, Q96H03, Q9Y484
      UniProtKB/TrEMBL
      A0A0U1RR06
      Related
      ENSP00000365551.3, ENST00000376372.9
      Conserved Domains (2) summary
      sd00039
      Location:196232
      7WD40; WD40 repeat [structural motif]
      cl29593
      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_007075.4NP_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)
      AC231657, AF196779, BC035979, BC069206
      Consensus CDS
      CCDS14318.1
      UniProtKB/TrEMBL
      A0A0U1RR06
      Related
      ENSP00000348848.3, ENST00000356463.7
      Conserved Domains (2) summary
      sd00039
      Location:197233
      7WD40; WD40 repeat [structural motif]
      cl29593
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      49074442..49101178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791820.1 Reference GRCh38.p14 PATCHES

      Range
      233393..260129 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      48486169..48512926 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)