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MIPEP mitochondrial intermediate peptidase [ Homo sapiens (human) ]

Gene ID: 4285, updated on 7-Apr-2024

Summary

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Official Symbol
MIPEPprovided by HGNC
Official Full Name
mitochondrial intermediate peptidaseprovided by HGNC
Primary source
HGNC:HGNC:7104
See related
Ensembl:ENSG00000027001 MIM:602241; AllianceGenome:HGNC:7104
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

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Location:
13q12.12
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23730189..23889400, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (22936639..23095878, complement)
105.20220307 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 uncharacterized LOC124903135 Neighboring gene NANOG hESC enhancer GRCh37_chr13:24081975-24082502 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:24100455-24101050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24141962-24142474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24142475-24142986 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5174 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32745 Neighboring gene TNF receptor superfamily member 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24192537-24193038 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24195169-24195668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24205756-24206564 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24206565-24207373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24213321-24213822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24228053-24228554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24269883-24270456 Neighboring gene uncharacterized LOC105370113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7465 Neighboring gene MT-CO3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7467 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24386207-24386732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24463319-24463819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24477599-24478098 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Maturation of Mitochondrially Targeted Prx V Involves a Second Cleavage by Mitochondrial Intermediate Peptidase That Is Sensitive to Inhibition by H(2)O(2). Sim J, et al. Antioxidants (Basel), 2021 Feb 25. PMID 33669127, Free PMC Article
  2. Genotype-phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population. Liu J, et al. Br J Ophthalmol, 2021 Jun. PMID 31604699
  3. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Eldomery MK, et al. Genome Med, 2016 Nov 1. PMID 27799064, Free PMC Article
  4. Functional and genomic analysis of the human mitochondrial intermediate peptidase, a putative protein partner of frataxin. Chew A, et al. Genomics, 2000 Apr 15. PMID 10783257
  5. Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). Chew A, et al. Genomics, 1997 Mar 15. PMID 9073519

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
    Title: Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.
  2. Genotype-phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population.
    Title: Genotype-phenotype correlation and interaction of 4q25, 15q14 and MIPEP variants with myopia in southern Chinese population.
  3. Functional coupling of presequence processing and degradation in human mitochondria.
    Title: Functional coupling of presequence processing and degradation in human mitochondria.
  4. found that both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF
    Title: The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil.
  5. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
    Title: MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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

Associated conditions

Description Tests
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
MedGen: C4310661 OMIM: 617228 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
EBI GWAS Catalog
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
EBI GWAS Catalog
Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
Process Evidence Code Pubs
involved_in peptide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein processing involved in protein targeting to mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
mitochondrial intermediate peptidase
NP_005923.3
XP_011533399.1
XP_011533400.1
XP_047286324.1
XP_054230544.1
XP_054230545.1
XP_054230546.1

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_052977.2 RefSeqGene

    Range
    5000..164211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005932.4 → NP_005923.3  mitochondrial intermediate peptidase

    Status: REVIEWED

    Source sequence(s)
    AL139080, AL157368, AL445985
    Consensus CDS
    CCDS9303.1
    UniProtKB/Swiss-Prot
    Q5JV15, Q5T9Q9, Q96G65, Q99797
    Related
    ENSP00000371607.3, ENST00000382172.4
    Conserved Domains (1) summary
    cd06457
    Location:64 → 697
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    23730189..23889400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535097.3 → XP_011533399.1  mitochondrial intermediate peptidase isoform X1

    Conserved Domains (2) summary
    cd06457
    Location:2 → 635
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)
    COG0339
    Location:2 → 631
    Dcp; Zn-dependent oligopeptidase [Posttranslational modification, protein turnover, chaperones]

  2. XM_011535098.4 → XP_011533400.1  mitochondrial intermediate peptidase isoform X2

    Conserved Domains (1) summary
    cd06457
    Location:64 → 619
    M3A_MIP; Peptidase M3 mitochondrial intermediate peptidase (MIP)

  3. XM_047430368.1 → XP_047286324.1  mitochondrial intermediate peptidase isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    22936639..23095878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374569.1 → XP_054230544.1  mitochondrial intermediate peptidase isoform X1

  2. XM_054374571.1 → XP_054230546.1  mitochondrial intermediate peptidase isoform X3

  3. XM_054374570.1 → XP_054230545.1  mitochondrial intermediate peptidase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99797.2 GenPept UniProtKB/Swiss-Prot:Q99797

Gene LinkOut

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