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Aliases for MIPEP Gene

Aliases for MIPEP Gene

  • Mitochondrial Intermediate Peptidase 2 3 5
  • EC 3.4.24.59 4 58
  • MIP 3 4
  • COXPD31 3
  • HMIP 3

External Ids for MIPEP Gene

Previous GeneCards Identifiers for MIPEP Gene

  • GC13M022284
  • GC13M018284
  • GC13M023234
  • GC13M022102
  • GC13M023202
  • GC13M024304
  • GC13M005115

Summaries for MIPEP Gene

Entrez Gene Summary for MIPEP Gene

  • The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

GeneCards Summary for MIPEP Gene

MIPEP (Mitochondrial Intermediate Peptidase) is a Protein Coding gene. Diseases associated with MIPEP include Combined Oxidative Phosphorylation Deficiency 31 and Friedreich Ataxia. GO annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot for MIPEP Gene

  • Cleaves proteins, imported into the mitochondrion, to their mature size.

Additional gene information for MIPEP Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIPEP Gene

Genomics for MIPEP Gene

Regulatory Elements for MIPEP Gene

Enhancers for MIPEP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H023866 1.3 FANTOM5 Ensembl ENCODE 21.1 +21.5 21507 3 KLF1 TAL1 RAD21 TCF12 CTBP1 ZNF316 FOS NFE2 MAFK L3MBTL2 C1QTNF9 MIPEP PCOTH C1QTNF9B TNFRSF19 MTCO3P2
GH13H023504 1.2 Ensembl ENCODE dbSUPER 11.3 +383.0 383039 3 PKNOX1 ZBTB21 INSM2 FEZF1 ZIC2 HIC1 GLIS2 ZNF366 POLR2A ZNF600 MIPEP PCOTH C1QTNF9B TNFRSF19 LINC00352 PIR60894
GH13H023608 1.2 Ensembl ENCODE 11.2 +279.9 279927 2 ELF3 PKNOX1 FOXA2 ATF1 ZSCAN4 ARID4B FEZF1 BATF THRB RARA MIPEP PCOTH C1QTNF9B TNFRSF19 LOC105370114
GH13H023372 1.2 Ensembl ENCODE 11.1 +513.3 513279 8 PKNOX1 FOXA2 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 FOS ATF7 RUNX3 MIPEP PCOTH C1QTNF9B SACS RPLP1P13 SACS-AS1
GH13H023887 1.1 ENCODE 12 +0.4 405 2 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS SP3 C1QTNF9 MIPEP PCOTH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIPEP on UCSC Golden Path with GeneCards custom track

Promoters for MIPEP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000059977 248 1601 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 FOS SP3

Genomic Location for MIPEP Gene

Chromosome:
13
Start:
23,730,188 bp from pter
End:
23,889,448 bp from pter
Size:
159,261 bases
Orientation:
Minus strand

Genomic View for MIPEP Gene

Genes around MIPEP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIPEP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIPEP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIPEP Gene

Proteins for MIPEP Gene

  • Protein details for MIPEP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99797-MIPEP_HUMAN
    Recommended name:
    Mitochondrial intermediate peptidase
    Protein Accession:
    Q99797
    Secondary Accessions:
    • Q5JV15
    • Q5T9Q9
    • Q96G65

    Protein attributes for MIPEP Gene

    Size:
    713 amino acids
    Molecular mass:
    80641 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Monomer.

neXtProt entry for MIPEP Gene

Selected DME Specific Peptides for MIPEP Gene

Q99797:
  • TAWQLRFSHLVGYGA
  • HSMLGRT
  • VSTSWSPVGAAFNVKPQ

Post-translational modifications for MIPEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MIPEP Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MIPEP Gene

Gene Families for MIPEP Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MIPEP Gene

Suggested Antigen Peptide Sequences for MIPEP Gene

Graphical View of Domain Structure for InterPro Entry

Q99797

UniProtKB/Swiss-Prot:

MIPEP_HUMAN :
  • Belongs to the peptidase M3 family.
Family:
  • Belongs to the peptidase M3 family.
genes like me logo Genes that share domains with MIPEP: view

Function for MIPEP Gene

Molecular function for MIPEP Gene

GENATLAS Biochemistry:
mitochondrial intermediate peptidase,involved in the biogenesis of the oxidative phosphorylation system
UniProtKB/Swiss-Prot CatalyticActivity:
Release of an N-terminal octapeptide as second stage of processing of some proteins imported into the mitochondrion.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is divalent cation-dependent. It is stimulated by manganese, magnesium or calcium ions and reversibly inhibited by zinc, cobalt and iron (By similarity).
UniProtKB/Swiss-Prot Function:
Cleaves proteins, imported into the mitochondrion, to their mature size.

Enzyme Numbers (IUBMB) for MIPEP Gene

Phenotypes From GWAS Catalog for MIPEP Gene

Gene Ontology (GO) - Molecular Function for MIPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MIPEP: view
genes like me logo Genes that share phenotypes with MIPEP: view

Animal Model Products

CRISPR Products

miRNA for MIPEP Gene

miRTarBase miRNAs that target MIPEP

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MIPEP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIPEP Gene

Localization for MIPEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIPEP Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIPEP gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MIPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion TAS,IDA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with MIPEP: view

Pathways & Interactions for MIPEP Gene

SuperPathways for MIPEP Gene

No Data Available

Gene Ontology (GO) - Biological Process for MIPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006518 peptide metabolic process IBA --
GO:0006627 protein processing involved in protein targeting to mitochondrion TAS,IBA --
genes like me logo Genes that share ontologies with MIPEP: view

No data available for Pathways by source and SIGNOR curated interactions for MIPEP Gene

Drugs & Compounds for MIPEP Gene

(6) Drugs for MIPEP Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 35
Cobalt Pharma 172
calcium Nutra 0
Magnesium Nutra 0

(3) Additional Compounds for MIPEP Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with MIPEP: view

Transcripts for MIPEP Gene

Unigene Clusters for MIPEP Gene

Mitochondrial intermediate peptidase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MIPEP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MIPEP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2:
SP3: -

Relevant External Links for MIPEP Gene

GeneLoc Exon Structure for
MIPEP
ECgene alternative splicing isoforms for
MIPEP

Expression for MIPEP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MIPEP Gene

Protein differential expression in normal tissues from HIPED for MIPEP Gene

This gene is overexpressed in Esophagus (6.9), Adrenal (6.9), Tonsil (6.5), Uterus (6.4), and Salivary gland (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIPEP Gene



Protein tissue co-expression partners for MIPEP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MIPEP Gene:

MIPEP

SOURCE GeneReport for Unigene cluster for MIPEP Gene:

Hs.507498

Evidence on tissue expression from TISSUES for MIPEP Gene

  • Liver(4.2)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with MIPEP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MIPEP Gene

Orthologs for MIPEP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MIPEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIPEP 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia MIPEP 33 34
  • 90.09 (n)
mouse
(Mus musculus)
Mammalia Mipep 33 16 34
  • 83.14 (n)
rat
(Rattus norvegicus)
Mammalia Mipep 33
  • 82.71 (n)
cow
(Bos Taurus)
Mammalia MIPEP 33 34
  • 82.3 (n)
oppossum
(Monodelphis domestica)
Mammalia MIPEP 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIPEP 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIPEP 33 34
  • 76.63 (n)
lizard
(Anolis carolinensis)
Reptilia MIPEP 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mipep 33
  • 72.31 (n)
Str.10085 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23844 33
zebrafish
(Danio rerio)
Actinopterygii MIPEP (1 of 2) 34
  • 71 (a)
OneToMany
mipep 33 34
  • 69 (n)
Dr.29606 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007728 33
  • 56.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7791 35 33 34
  • 52.53 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y67H2A.7 33
  • 46.52 (n)
Y67H2A.7 35 34
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR198W 33
  • 47.09 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OCT1 33 34 36
  • 46.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B12397g 33
  • 44.65 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G51540 33
  • 47.83 (n)
rice
(Oryza sativa)
Liliopsida Os06g0686500 33
  • 46.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.690 34
  • 49 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oct1 33
  • 48.08 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02063 33
  • 45.05 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1536 33
Species where no ortholog for MIPEP was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MIPEP Gene

ENSEMBL:
Gene Tree for MIPEP (if available)
TreeFam:
Gene Tree for MIPEP (if available)

Paralogs for MIPEP Gene

Pseudogenes.org Pseudogenes for MIPEP Gene

genes like me logo Genes that share paralogs with MIPEP: view

No data available for Paralogs for MIPEP Gene

Variants for MIPEP Gene

Sequence variations from dbSNP and Humsavar for MIPEP Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs143912947 Pathogenic, Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] 23,869,319(+) TTGGA(A/G)AGCCC reference, missense
rs779598020 Pathogenic, Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228] 23,837,561(+) GACGT(C/G)TTGGT reference, missense
VAR_078009 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
VAR_078011 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]
VAR_078013 Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]

Structural Variations from Database of Genomic Variants (DGV) for MIPEP Gene

Variant ID Type Subtype PubMed ID
dgv1615n100 CNV gain 25217958
dgv3084n54 CNV gain 21841781
esv21543 CNV gain 19812545
esv2422502 CNV duplication 17116639
esv2658569 CNV deletion 23128226
esv2659554 CNV deletion 23128226
esv2751136 CNV loss 17911159
esv3580575 CNV loss 25503493
esv3580576 CNV loss 25503493
esv3631528 CNV loss 21293372
esv3631529 CNV gain 21293372
esv3631531 CNV loss 21293372
esv3631532 CNV loss 21293372
esv3631534 CNV gain 21293372
esv3631535 CNV loss 21293372
esv3631536 CNV gain 21293372
esv3892311 CNV gain 25118596
esv5325 OTHER complex 18987735
nsv1041095 CNV loss 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv455837 CNV gain 19166990
nsv472818 CNV novel sequence insertion 20440878
nsv525965 CNV gain 19592680
nsv561292 CNV loss 21841781
nsv561337 CNV loss 21841781
nsv832566 CNV gain 17160897
nsv983560 CNV duplication 23825009

Variation tolerance for MIPEP Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIPEP Gene

Human Gene Mutation Database (HGMD)
MIPEP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIPEP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIPEP Gene

Disorders for MIPEP Gene

MalaCards: The human disease database

(4) MalaCards diseases for MIPEP Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 31
  • lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
friedreich ataxia
  • friedreich ataxia with retained reflexes
sickle cell anemia
  • drepanocytosis
left ventricular noncompaction
  • left ventricular hypertrabeculation
- elite association - COSMIC cancer census association via MalaCards
Search MIPEP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MIPEP_HUMAN
  • Combined oxidative phosphorylation deficiency 31 (COXPD31) [MIM:617228]: An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood. {ECO:0000269 PubMed:27799064}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MIPEP

Genetic Association Database (GAD)
MIPEP
Human Genome Epidemiology (HuGE) Navigator
MIPEP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIPEP
genes like me logo Genes that share disorders with MIPEP: view

No data available for Genatlas for MIPEP Gene

Publications for MIPEP Gene

  1. Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). (PMID: 9073519) Chew A … Isaya G (Genomics 1997) 2 3 4 22 60
  2. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. (PMID: 27799064) Eldomery MK … Sutton VR (Genome medicine 2016) 3 4 60
  3. Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population. (PMID: 21640322) Shi Y … Yang Z (American journal of human genetics 2011) 3 45 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin. (PMID: 10783257) Chew A … Isaya G (Genomics 2000) 3 22 60

Products for MIPEP Gene

Sources for MIPEP Gene

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