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

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: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (12666807..12675832)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (12791305..12800330)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (12777621..12786646)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cloning of the Human MORG1 Promoter: Differential Regulation by Hypoxia and Prolyl-Hydroxylase Inhibitors.
Title: Cloning of the Human MORG1 Promoter: Differential Regulation by Hypoxia and Prolyl-Hydroxylase Inhibitors.
Morg1 facilitates Par6-aPKC binding to Crb3 for definition of apical identity of epithelial cells.
Title: The WD40 protein Morg1 facilitates Par6-aPKC binding to Crb3 for apical identity in epithelial cells.
WDR83 and DHPS were capable of forming an RNA duplex at overlapping 3' untranslated regions and this duplex increased their mutual stability, which was required for the bidirectional regulation.
Title: Bidirectional regulation between WDR83 and its natural antisense transcript DHPS in gastric cancer.
Functional characterization of the homologous rat gene.
Title: The novel WD-repeat protein Morg1 acts as a molecular scaffold for hypoxia-inducible factor prolyl hydroxylase 3 (PHD3).
Includes the identification of this protein in C complex spliceosomes.
Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.
Morg1 expression is reduced in human brain tissue with ischemic damage. Reactive astrocytes in the surrounding brain tissue showed strong Morg1 expression.
Title: Reduced Morg1 expression in ischemic human brain.
Component of a modular scaffold system that participates in the regulation of agonist-specific ERK signaling.
Title: Modular construction of a signaling scaffold: MORG1 interacts with components of the ERK cascade and links ERK signaling to specific agonists.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-19573 (e-PCR)
- UniSTS:26378

MARC_7999-8000:996688236:1 (e-PCR)
- UniSTS:269875

D19S677E (e-PCR)
- UniSTS:150580

GDB:335318 (e-PCR)
- UniSTS:156597

WI-18725 (e-PCR)
- UniSTS:26861

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 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

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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

NG_015814.1 RefSeqGene

Range

5004..14029

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001099737.3 → NP_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:18 → 295

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:30 → 65

7WD40; WD40 repeat [structural motif]
NM_032332.4 → NP_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:18 → 295

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:30 → 65

7WD40; WD40 repeat [structural motif]

RNA

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