JMY junction mediating and regulatory protein, p53 cofactor [Homo sapiens (human)] - Gene

Summary

Official Symbol: JMYprovided by HGNC
Official Full Name: junction mediating and regulatory protein, p53 cofactorprovided by HGNC
Primary source: HGNC:HGNC:28916
See related: Ensembl:ENSG00000152409 MIM:604279; AllianceGenome:HGNC:28916
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: WHAMM2; WHDC1L3
Summary: Predicted to enable Arp2/3 complex binding activity and transcription coactivator activity. Predicted to be involved in several processes, including actin nucleation; intrinsic apoptotic signaling pathway by p53 class mediator; and regulation of transcription, DNA-templated. Located in cell leading edge. [provided by Alliance of Genome Resources, Apr 2022]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Expression: Ubiquitous expression in endometrium (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q14.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (79236131..79327211)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (79720365..79811387)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (78531954..78623034)

Chromosome 5 - NC_000005.10 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?

The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
Title: The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions.
Title: Role of Junction-Mediating and Regulatory Protein in the Pathogenesis of Glucocorticoid-Induced Endothelial Cell Lesions.
LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation.
Title: LC3 and STRAP regulate actin filament assembly by JMY during autophagosome formation.
In autophagosomes, the integrity of the WH2 domains allows JMY to promote actin nucleation, which is required for efficient autophagosome formation.
Title: Actin nucleation by WH2 domains at the autophagosome.
JMY was expressed in normal tissues and heterogeneously in different tumor types, with close correlation between cytoplasmic and nuclear expression.
Title: JMY protein, a regulator of P53 and cytoplasmic actin filaments, is expressed in normal and neoplastic tissues.
JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients.
Title: JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients: a case-control study.
JMY is related to the severity of AS in Chinese Han patients.
Title: JMY polymorphism is related to severity of ankylosing spondylitis in Chinese Han patients.
actin assembly regulates nuclear import of JMY in response to DNA damage.
Title: Actin binding to WH2 domains regulates nuclear import of the multifunctional actin regulator JMY.
JMY is expressed at high levels in brain tissue, and in various cell lines JMY is predominantly cytoplasmic, with a minor fraction in the nucleus.
Title: The actin nucleation factor JMY is a negative regulator of neuritogenesis.
results establish the interplay between JMY and HIF-1alpha as a new mechanism that controls cell motility under hypoxic stress
Title: Hypoxia-driven cell motility reflects the interplay between JMY and HIF-1α.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

EBI GWAS Catalog

Description
Genome-wide association study of selenium concentrations. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH103560 (e-PCR)
- UniSTS:97885

JMY__6491 (e-PCR)
- UniSTS:464002

WI-22612 (e-PCR)
- UniSTS:466

RH46880 (e-PCR)
- UniSTS:4859

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Arp2/3 complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in 'de novo' actin filament nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in 'de novo' actin filament nucleation	ISS Inferred from Sequence or Structural Similarity more info
involved_in Arp2/3 complex-mediated actin nucleation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Arp2/3 complex-mediated actin nucleation	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in actin polymerization-dependent cell motility	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell leading edge	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in endomembrane system	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: junction-mediating and -regulatory protein

Names: WAS protein homology region 2 domain containing 1-like 3

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)

NM_152405.5 → NP_689618.4 junction-mediating and -regulatory protein

See identical proteins and their annotated locations for NP_689618.4

Status: VALIDATED

Source sequence(s)

AC016559, AC020898, AK095189, BC130624, BM668734, CN372786, DA435238

Consensus CDS

CCDS4047.3

UniProtKB/Swiss-Prot

A1L4P5, B5MDS2, B5MDT0, Q8N9B5

Related

ENSP00000379441.4, ENST00000396137.5

Conserved Domains (3) summary

TIGR02168
Location:446 → 720

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam15871
Location:229 → 582

JMY; Junction-mediating and -regulatory protein

pfam15920
Location:6 → 54

WHAMM-JMY_N; N-terminal of Junction-mediating and WASP homolog-associated