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WDR83 WD repeat domain 83 [ Homo sapiens (human) ]

Gene ID: 84292, updated on 12-Nov-2024

Summary

Official Symbol
WDR83provided by HGNC
Official Full Name
WD repeat domain 83provided by HGNC
Primary source
HGNC:HGNC:32672
See related
Ensembl:ENSG00000123154 MIM:616850; AllianceGenome:HGNC:32672
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
MORG1
Summary
This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in ovary (RPKM 12.2), skin (RPKM 10.9) and 25 other tissues See more
Orthologs
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Genomic context

See WDR83 in Genome Data Viewer
Location:
19p13.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12666807..12675832)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12791305..12800330)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12777621..12786646)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:12754106-12755305 Neighboring gene ribosomal protein L10 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10155 Neighboring gene mannosidase alpha class 2B member 1 Neighboring gene MPRA-validated peak3365 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12775226-12776174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12776175-12777122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12781177-12781850 Neighboring gene WD repeat domain 83 opposite strand Neighboring gene CRISPRi-FlowFISH-validated DHPS regulatory element Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14071 Neighboring gene deoxyhypusine synthase Neighboring gene CRISPRi-FlowFISH-validated WDR83OS regulatory elements Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12793915-12794437 Neighboring gene G protein subunit gamma 14 Neighboring gene F-box and WD repeat domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14072

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC4238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing, via transesterification reactions IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inflammatory response to wounding IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
involved_in mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
involved_in placenta blood vessel development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of canonical NF-kappaB signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane TAS
Traceable Author Statement
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
part_of spliceosomal complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat domain-containing protein 83
Names
MAPK organizer 1
mitogen-activated protein kinase organizer 1

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.

Genomic

  1. NG_015814.1 RefSeqGene

    Range
    5004..14029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099737.3NP_001093207.1  WD repeat domain-containing protein 83

    See identical proteins and their annotated locations for NP_001093207.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK314164, BC005870, Z46189
    Consensus CDS
    CCDS12275.1
    UniProtKB/Swiss-Prot
    B2RAF1, Q53FT6, Q9BRX9
    Related
    ENSP00000402653.3, ENST00000418543.8
    Conserved Domains (2) summary
    cd00200
    Location:18295
    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 ...
    sd00039
    Location:3065
    7WD40; WD40 repeat [structural motif]
  2. NM_032332.4NP_115708.1  WD repeat domain-containing protein 83

    See identical proteins and their annotated locations for NP_115708.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC005870, CB143206
    Consensus CDS
    CCDS12275.1
    UniProtKB/Swiss-Prot
    B2RAF1, Q53FT6, Q9BRX9
    Conserved Domains (2) summary
    cd00200
    Location:18295
    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 ...
    sd00039
    Location:3065
    7WD40; WD40 repeat [structural motif]

RNA

  1. NR_029375.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK074525, BC005870, Z46189
    Related
    ENST00000548381.5

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    12666807..12675832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    12791305..12800330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)