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    WDR45B WD repeat domain 45B [ Homo sapiens (human) ]

    Gene ID: 56270, updated on 2-Nov-2024

    Summary

    Official Symbol
    WDR45Bprovided by HGNC
    Official Full Name
    WD repeat domain 45Bprovided by HGNC
    Primary source
    HGNC:HGNC:25072
    See related
    Ensembl:ENSG00000141580 MIM:609226; AllianceGenome:HGNC:25072
    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
    WIPI3; WDR45L; WIPI-3; NEDSBAS
    Summary
    This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 30.3), esophagus (RPKM 20.3) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See WDR45B in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82614562..82648444, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (83488501..83522749, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80572438..80606320, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene forkhead box K2 Neighboring gene uncharacterized LOC105371942 Neighboring gene uncharacterized LOC124904132 Neighboring gene ARF like GTPase 2 binding protein pseudogene 9 Neighboring gene MPRA-validated peak3032 silencer Neighboring gene Sharpr-MPRA regulatory region 15512 Neighboring gene MPRA-validated peak3033 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9219 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9221 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:80605965-80606464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80622218-80622718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13014 Neighboring gene RAB40B, member RAS oncogene family Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80637586-80638111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80638112-80638636 Neighboring gene microRNA 4525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9224 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80660456-80661655 Neighboring gene uncharacterized LOC124904093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:80661763-80662564

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TSC1-TSC2 complex 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-3,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    Process Evidence Code Pubs
    involved_in autophagosome assembly 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 protein lipidation involved in autophagosome assembly 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
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 3
    Names
    WD repeat protein 45-like
    WD repeat-containing protein 45-like
    WD repeat-containing protein 45B
    WDR45-like protein
    WIPI3 long
    WIPI49-like protein

    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_046895.1 RefSeqGene

      Range
      5092..38974
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_019613.4NP_062559.2  WD repeat domain phosphoinositide-interacting protein 3

      See identical proteins and their annotated locations for NP_062559.2

      Status: REVIEWED

      Source sequence(s)
      AA861045, AC124283, AM182326, CN262716
      Consensus CDS
      CCDS11815.2
      UniProtKB/Swiss-Prot
      A0A024R8U4, A0A218N098, O95328, Q2MCP6, Q5MNZ6, Q6IBN2
      Related
      ENSP00000376139.4, ENST00000392325.9
      Conserved Domains (2) summary
      sd00039
      Location:145183
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:25258
      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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82614562..82648444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256377.6XP_005256434.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X1

      See identical proteins and their annotated locations for XP_005256434.1

      Conserved Domains (2) summary
      sd00039
      Location:111149
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:46223
      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. XM_047436412.1XP_047292368.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X2

    3. XM_047436413.1XP_047292369.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X3

    4. XM_047436414.1XP_047292370.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X4

      Related
      ENSP00000461488.1, ENST00000572583.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      83488501..83522749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316690.1XP_054172665.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X1

    2. XM_054316691.1XP_054172666.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X3

    3. XM_054316692.1XP_054172667.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X4