Human Gene GRPEL1 (uc003gjy.1)
  Description: Homo sapiens GrpE-like 1, mitochondrial (E. coli) (GRPEL1), nuclear gene encoding mitochondrial protein, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr4:7,061,780-7,069,800 Size: 8,021 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr4:7,062,589-7,069,759 Size: 7,171 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:7,061,780-7,069,800)mRNA (may differ from genome)Protein (217 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRPE1_HUMAN
DESCRIPTION: RecName: Full=GrpE protein homolog 1, mitochondrial; AltName: Full=HMGE; AltName: Full=Mt-GrpE#1; Flags: Precursor;
FUNCTION: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Seems to control the nucleotide-dependent binding of mitochondrial HSP70 to substrate proteins.
SUBUNIT: Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). Binds to HSP70, HSC70 and HSJ1B.
SUBCELLULAR LOCATION: Mitochondrion matrix.
SIMILARITY: Belongs to the GrpE family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GRPEL1
CDC HuGE Published Literature: GRPEL1
Positive Disease Associations: Body Fat Distribution , Body Height , Heart Rate , Lipoproteins
Related Studies:
  1. Body Fat Distribution
    , , . [PubMed 0]
  2. Body Height
    , , . [PubMed 0]
  3. Heart Rate
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: GRPEL1
Diseases sorted by gene-association score: human monocytic ehrlichiosis (9), whipple disease (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C006253 pirinixic acid
  • D002945 Cisplatin
  • C517041 (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C019499 2-nitrofluorene
  • C016583 4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone
  • D016604 Aflatoxin B1
  • D000638 Amiodarone
  • D000643 Ammonium Chloride
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.26 RPKM in Adrenal Gland
Total median expression: 540.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.3041-0.398 Picture PostScript Text
3' UTR -225.60809-0.279 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000740 - GrpE
IPR013805 - GrpE_coiled_coil
IPR009012 - GrpE_head

Pfam Domains:
PF01025 - GrpE

SCOP Domains:
51064 - Head domain of nucleotide exchange factor GrpE

ModBase Predicted Comparative 3D Structure on Q9HAV7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000774 adenyl-nucleotide exchange factor activity
GO:0042803 protein homodimerization activity
GO:0051082 unfolded protein binding
GO:0051087 chaperone binding

Biological Process:
GO:0006457 protein folding
GO:0030150 protein import into mitochondrial matrix
GO:0050790 regulation of catalytic activity

Cellular Component:
GO:0001405 presequence translocase-associated import motor
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  LF206817 - JP 2014500723-A/14320: Polycomb-Associated Non-Coding RNAs.
AF070525 - Homo sapiens clone 24706 mRNA sequence.
BC024242 - Homo sapiens GrpE-like 1, mitochondrial (E. coli), mRNA (cDNA clone MGC:33210 IMAGE:4823476), complete cds.
JD281159 - Sequence 262183 from Patent EP1572962.
JD362865 - Sequence 343889 from Patent EP1572962.
AK301695 - Homo sapiens cDNA FLJ52947 complete cds, highly similar to GrpE protein homolog 1, mitochondrial precursor.
JD285873 - Sequence 266897 from Patent EP1572962.
JD550040 - Sequence 531064 from Patent EP1572962.
JD297317 - Sequence 278341 from Patent EP1572962.
JD143006 - Sequence 124030 from Patent EP1572962.
JD303860 - Sequence 284884 from Patent EP1572962.
AF087896 - Homo sapiens stress-inducible chaperone GrpE mRNA, complete cds.
AK098475 - Homo sapiens cDNA FLJ25609 fis, clone STM00363.
JD377572 - Sequence 358596 from Patent EP1572962.
JD518867 - Sequence 499891 from Patent EP1572962.
JD194553 - Sequence 175577 from Patent EP1572962.
JD115200 - Sequence 96224 from Patent EP1572962.
JD182926 - Sequence 163950 from Patent EP1572962.
LF358246 - JP 2014500723-A/165749: Polycomb-Associated Non-Coding RNAs.
AF298592 - Homo sapiens GrpE-like protein cochaperone mRNA, nuclear gene for mitochondrial product, partial cds.
DQ891523 - Synthetic construct clone IMAGE:100004153; FLH177704.01X; RZPDo839D02126D GrpE-like 1, mitochondrial (E. coli) (GRPEL1) gene, encodes complete protein; nuclear gene for mitochondrial product.
AK312882 - Homo sapiens cDNA, FLJ93326, Homo sapiens GrpE-like protein cochaperone (HMGE), mRNA.
KJ894805 - Synthetic construct Homo sapiens clone ccsbBroadEn_04199 GRPEL1 gene, encodes complete protein.
DQ894713 - Synthetic construct Homo sapiens clone IMAGE:100009173; FLH177700.01L; RZPDo839D02125D GrpE-like 1, mitochondrial (E. coli) (GRPEL1) gene, encodes complete protein; nuclear gene for mitochondrial product.
LF358245 - JP 2014500723-A/165748: Polycomb-Associated Non-Coding RNAs.
LF358244 - JP 2014500723-A/165747: Polycomb-Associated Non-Coding RNAs.
LF358241 - JP 2014500723-A/165744: Polycomb-Associated Non-Coding RNAs.
MA442394 - JP 2018138019-A/14320: Polycomb-Associated Non-Coding RNAs.
MA593823 - JP 2018138019-A/165749: Polycomb-Associated Non-Coding RNAs.
MA593822 - JP 2018138019-A/165748: Polycomb-Associated Non-Coding RNAs.
MA593821 - JP 2018138019-A/165747: Polycomb-Associated Non-Coding RNAs.
MA593818 - JP 2018138019-A/165744: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HAV7 (Reactome details) participates in the following event(s):

R-HSA-1299480 Precursor proteins enter TIMM23 PAM
R-HSA-1299487 Precursor proteins enter TIMM23 SORT
R-HSA-1299475 TIMM23 PAM translocates proteins from the mitochndrial intermebrane space to the mitochondrial matrix
R-HSA-1299482 TIMM23 SORT inserts proteins into inner membrane
R-HSA-1299478 MPP cleaves targeting peptide (presequence) of matrix precursors
R-HSA-1299476 MPP cleaves targeting peptide (presequence) of inner membrane precursors
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R783, GREPEL1, GRPE1_HUMAN, NM_025196, NP_079472, Q549M6, Q9HAV7
UCSC ID: uc003gjy.1
RefSeq Accession: NM_025196
Protein: Q9HAV7 (aka GRPE1_HUMAN or GRE1_HUMAN)
CCDS: CCDS3396.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_025196.2
exon count: 4CDS single in 3' UTR: no RNA size: 1519
ORF size: 654CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 1508.00frame shift in genome: no % Coverage: 99.01
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.