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WDR59 WD repeat domain 59 [ Homo sapiens (human) ]

Gene ID: 79726, updated on 5-Aug-2022

Summary

Official Symbol
WDR59provided by HGNC
Official Full Name
WD repeat domain 59provided by HGNC
Primary source
HGNC:HGNC:25706
See related
Ensembl:ENSG00000103091 MIM:617418; AllianceGenome:HGNC:25706
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDW12; FP977; p90-120
Summary
Involved in cellular response to amino acid starvation and positive regulation of TOR signaling. Located in lysosomal membrane. Part of GATOR2 complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 11.4), thyroid (RPKM 10.4) and 25 other tissues See more
Orthologs
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Genomic context

See WDR59 in Genome Data Viewer
Location:
16q23.1
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (74871362..74985123, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (80918078..81031872, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (74905260..75019021, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene fatty acid 2-hydroxylase Neighboring gene uncharacterized LOC105371343 Neighboring gene zinc and ring finger 1 Neighboring gene Sharpr-MPRA regulatory region 12749 Neighboring gene lactate dehydrogenase D

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12270, MGC11230

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables signaling adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of GATOR2 complex IC
Inferred by Curator
more info
PubMed 
part_of GATOR2 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Seh1-associated complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
is_active_in vacuolar membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
GATOR complex protein WDR59
Names
CDw12 antigen
WD repeat-containing protein 59

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001324171.2NP_001311100.1  GATOR complex protein WDR59 isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC004519, CA777098
    Consensus CDS
    CCDS82011.1
    UniProtKB/Swiss-Prot
    Q6PJI9
    Related
    ENSP00000482446.1, ENST00000616369.4
    Conserved Domains (3) summary
    smart00591
    Location:394494
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain
    sd00039
    Location:62103
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:100343
    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_001324172.2NP_001311101.1  GATOR complex protein WDR59 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL562571, BU850134, CA777098, R43806
    Related
    ENSP00000481730.1, ENST00000536050.5
  3. NM_030581.4NP_085058.3  GATOR complex protein WDR59 isoform 1

    See identical proteins and their annotated locations for NP_085058.3

    Status: VALIDATED

    Source sequence(s)
    AC009132, AC092383, AF370390, BC004519, CA777098
    Consensus CDS
    CCDS32488.1
    UniProtKB/Swiss-Prot
    Q6PJI9, Q9HA43
    Related
    ENSP00000262144.6, ENST00000262144.11
    Conserved Domains (5) summary
    smart00591
    Location:394494
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain
    COG2319
    Location:34328
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:62103
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:100343
    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 ...
    cl24077
    Location:924972
    Zn_ribbon_17; Zinc-ribbon, C4HC2 type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    74871362..74985123 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434642.1XP_047290598.1  GATOR complex protein WDR59 isoform X5

  2. XM_047434640.1XP_047290596.1  GATOR complex protein WDR59 isoform X4

  3. XM_047434639.1XP_047290595.1  GATOR complex protein WDR59 isoform X3

  4. XM_047434638.1XP_047290594.1  GATOR complex protein WDR59 isoform X2

  5. XM_005256146.4XP_005256203.1  GATOR complex protein WDR59 isoform X1

    Conserved Domains (5) summary
    smart00591
    Location:394494
    RWD; domain in RING finger and WD repeat containing proteins and DEXDc-like helicases subfamily related to the UBCc domain
    COG2319
    Location:34328
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:62103
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:100343
    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 ...
    cl24077
    Location:943991
    Zn_ribbon_17; Zinc-ribbon, C4HC2 type
  6. XM_047434641.1XP_047290597.1  GATOR complex protein WDR59 isoform X4

  7. XM_047434643.1XP_047290599.1  GATOR complex protein WDR59 isoform X6

  8. XM_047434646.1XP_047290602.1  GATOR complex protein WDR59 isoform X8

  9. XM_047434644.1XP_047290600.1  GATOR complex protein WDR59 isoform X7

  10. XM_047434645.1XP_047290601.1  GATOR complex protein WDR59 isoform X7

RNA

  1. XR_007064915.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    80918078..81031872 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)