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    MIPEP mitochondrial intermediate peptidase [ Homo sapiens (human) ]

    Gene ID: 4285, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See MIPEP in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23730189..23889400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (22936639..23095878, complement)
    RS_2024_09 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 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. Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). Chew A, et al. Genomics, 1997 Mar 15. PMID 9073519
    2. 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
    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. 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
    5. 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

    See all (41) 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
    		Compare labs

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    located_in mitochondrion HTP PubMed 
    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_2024_08

    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

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