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

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Summary

Official Symbol: JMYprovided by HGNC
Official Full Name: junction mediating and regulatory protein, p53 cofactorprovided by HGNC
Primary source: HGNC:28916
See related: Ensembl:ENSG00000152409; HPRD:05045; MIM:604279; Vega:OTTHUMG00000131301
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: WHDC1L3; FLJ37870; MGC163496

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Genomic context

Location :: 5q14.1

Sequence :: Chromosome: 5; NC_000005.9 (78531925..78623038)

See JMY in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
Data demonstrate a pathway that links the cytoskeleton with the p53 response, and further suggest that the ability of JMY to regulate actin and cadherin is instrumental in coordinating cell motility with the p53 response.
Title: A transcription co-factor integrates cell adhesion and motility with the p53 response.
JMY represents a new class of multifunctional actin assembly factor whose activity is regulated, at least in part, by sequestration in the nucleus.
Title: p53-cofactor JMY is a multifunctional actin nucleation factor.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Junction mediating and regulatory protein	Q09472	EP300	HPRD	PubMed
Junction mediating and regulatory protein	Q00987	MDM2	HPRD	PubMed
NC_000005.8	NP_005216.1	E2F1	BIND	PubMed	E2F1 interacts with the JMY promoter.
NC_000005.8	NP_004082.1	E2F2	BIND	PubMed	E2F2 interacts with the JMY promoter.
NC_000005.8	NP_001940.1	E2F3	BIND	PubMed	E2F3 interacts with the JMY promoter.
NC_000005.8	NP_001941.2	E2F4	BIND	PubMed	E2F4 interacts with the JMY promoter.
BioGRID:126372	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
'de novo' actin filament nucleation	ISS Inferred from Sequence or Structural Similarity more info
Arp2/3 complex-mediated actin nucleation	ISS Inferred from Sequence or Structural Similarity more info
DNA repair	IEA Inferred from Electronic Annotation more info
actin polymerization-dependent cell motility	ISS Inferred from Sequence or Structural Similarity more info
cell cycle arrest	ISS Inferred from Sequence or Structural Similarity more info
induction of apoptosis	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of sequence-specific DNA binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cell leading edge	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

Preferred Names: junction-mediating and -regulatory protein

Names: junction-mediating and -regulatory protein; junction-mediating and regulatory protein; WAS protein homology region 2 domain containing 1-like 3

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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.

mRNA and Protein(s)

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

Status: VALIDATED

Source sequence(s)

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

Consensus CDS

CCDS4047.3

UniProtKB/Swiss-Prot

Q8N9B5

Related

ENSP00000379441, OTTHUMP00000161976, ENST00000396137, OTTHUMT00000254070

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

78531925..78623038

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

73740043..73831040

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC016559.3	None
genomic	AC020898.6 (86368..145237)	None
genomic	CH471084.1	EAW95834.1
mRNA	AK092475.1	None
mRNA	AK095189.1	BAC04495.1
mRNA	AL708168.1	None
mRNA	BC130624.1	AAI30625.1
mRNA	BM668734.1	None
mRNA	BX648048.1	None
mRNA	BX648731.1	None
mRNA	CN372786.1	None
mRNA	DA435238.1	None
mRNA	DB313348.1	None
mRNA	DW425980.1	None