GRPEL1 GrpE like 1, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRPEL1provided by HGNC
Official Full Name: GrpE like 1, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:19696
See related: Ensembl:ENSG00000109519 MIM:606173; AllianceGenome:HGNC:19696
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: GrpE; HMGE; mt-GrpE#1
Summary: Enables identical protein binding activity and unfolded protein binding activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrial matrix and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal (RPKM 26.2), kidney (RPKM 13.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (7058895..7068064, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (7030735..7039901, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (7060622..7069791, complement)

Chromosome 4 - NC_000004.12 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?

Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2.
Title: Preferential binding of ADP-bound mitochondrial HSP70 to the nucleotide exchange factor GRPEL1 over GRPEL2.
These data demonstrate that LIV-1-GRPEL1 axis dually regulates mitotic exit as well as apoptosis by interacting with PP2A B55alpha and AIF.
Title: The LIV-1-GRPEL1 axis adjusts cell fate during anti-mitotic agent-damaged mitosis.
Data suggest that two putative NEF (nucleotide exchange factors) orthologs, GRPEL1 and GRPEL2, modulate function of mitochondrial HSP70 (mtHSP70); both GRPEL1 and GRPEL2 associate with mtHSP70 as hetero-oligomeric subcomplex and regulate mtHSP70 transport. (GRPEL = mitochondrial GrpE-like protein; HSP70 = heat-shock protein 70)
Title: Regulation of mitochondrial protein import by the nucleotide exchange factors GrpEL1 and GrpEL2 in human cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
The low resolution structure of human GrpE presented suggests that GrpE is a symmetric dimer when not bound to DnaK
Title: Free human mitochondrial GrpE is a symmetric dimer in solution.

Submit: New GeneRIF Correction

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

RH93089 (e-PCR)
- UniSTS:85820

SHGC-24819 (e-PCR)
- UniSTS:13446

SHGC-67381 (e-PCR)
- UniSTS:14230

SHGC-24778 (e-PCR)
- UniSTS:65268

WI-11590 (e-PCR)
- UniSTS:60149

SHGC-50566 (e-PCR)
- UniSTS:49914

STS-N29453 (e-PCR)
- UniSTS:28158

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of PAM complex, Tim23 associated import motor	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM23 mitochondrial import inner membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: grpE protein homolog 1, mitochondrial

Names: GrpE-like protein cochaperone

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.