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

Gene ID: 56270, updated on 17-Jun-2019

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
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

Genomic context

See WDR45B in Genome Data Viewer
Location:
17q25.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (82614562..82648530, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80572438..80606411, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene forkhead box K2 Neighboring gene uncharacterized LOC105371942 Neighboring gene ADP ribosylation factor like GTPase 2 binding protein pseudogene 9 Neighboring gene RAB40B, member RAS oncogene family Neighboring gene microRNA 4525 Neighboring gene uncharacterized LOC105376791

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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)

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
    5001..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
    Q5MNZ6
    UniProtKB/TrEMBL
    A0A024R8U4
    Related
    ENSP00000376139.4, ENST00000392325.9
    Conserved Domains (2) summary
    sd00039
    Location:145183
    7WD40; WD40 repeat [structural motif]
    cl25539
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    82614562..82648530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005256377.5XP_005256434.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X1

    See identical proteins and their annotated locations for XP_005256434.1

    Conserved Domains (3) summary
    COG2319
    Location:83307
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:111149
    7WD40; WD40 repeat [structural motif]
    cl02567
    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_017024862.2XP_016880351.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:70107
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:23145
    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 ...
  3. XM_017024863.1XP_016880352.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:70107
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:23145
    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 ...
  4. XM_024450836.1XP_024306604.1  WD repeat domain phosphoinositide-interacting protein 3 isoform X2

    Conserved Domains (2) summary
    sd00039
    Location:70107
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:23145
    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 ...

RNA

  1. XR_243524.2 RNA Sequence

    Related
    ENST00000572583.5
  2. XR_001752565.2 RNA Sequence

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