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MIPEP mitochondrial intermediate peptidase [ Homo sapiens (human) ]

Gene ID: 4285, updated on 21-Sep-2021

Summary

Official Symbol
MIPEPprovided by HGNC
Official Full Name
mitochondrial intermediate peptidaseprovided by HGNC
Primary source
HGNC:HGNC:7104
See related
Ensembl:ENSG00000027001 MIM:602241
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIP; HMIP; COXPD31
Summary
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]
Expression
Ubiquitous expression in kidney (RPKM 8.2), skin (RPKM 7.7) and 25 other tissues See more
Orthologs
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Genomic context

See MIPEP in Genome Data Viewer
Location:
13q12.12
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (23730189..23889448, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24304328..24463539, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 327 Neighboring gene TNF receptor superfamily member 19 Neighboring gene uncharacterized LOC105370114 Neighboring gene uncharacterized LOC105370113 Neighboring gene MT-CO3 pseudogene 2 Neighboring gene ankyrin repeat domain 20 family member A19, pseudogene Neighboring gene C1q and TNF related 9B Neighboring gene prostate and testis expressed opposite C1QTNF9B and MIPEP

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
GeneReviews: Not available
Combined oxidative phosphorylation deficiency 31
MedGen: C4310661 OMIM: 617228 GeneReviews: Not available
Compare labs
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
GeneReviews: Not available
Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in peptide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein processing involved in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
mitochondrial intermediate peptidase
NP_005923.3
XP_011533399.1
XP_011533400.1

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.

Genomic

  1. NG_052977.1 RefSeqGene

    Range
    5001..164260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005932.4NP_005923.3  mitochondrial intermediate peptidase

    Status: REVIEWED

    Source sequence(s)
    AL139080, AL157368, AL445985
    Consensus CDS
    CCDS9303.1
    Related
    ENSP00000371607.3, ENST00000382172.4
    Conserved Domains (1) summary
    cd06457
    Location:64697
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    23730189..23889448 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535097.2XP_011533399.1  mitochondrial intermediate peptidase isoform X1

    Conserved Domains (2) summary
    cd06457
    Location:2635
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)
    COG0339
    Location:2631
    Dcp; Zn-dependent oligopeptidase [Posttranslational modification, protein turnover, chaperones]
  2. XM_011535098.3XP_011533400.1  mitochondrial intermediate peptidase isoform X2

    Conserved Domains (1) summary
    cd06457
    Location:64619
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)
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