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    IMMP1L inner mitochondrial membrane peptidase subunit 1 [ Homo sapiens (human) ]

    Gene ID: 196294, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IMMP1Lprovided by HGNC
    Official Full Name
    inner mitochondrial membrane peptidase subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:26317
    See related
    Ensembl:ENSG00000148950 MIM:612323; AllianceGenome:HGNC:26317
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMP1; IMMP1; IMP1-LIKE
    Summary
    The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]
    Expression
    Ubiquitous expression in fat (RPKM 7.2), prostate (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IMMP1L in Genome Data Viewer
    Location:
    11p13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (31432401..31509622, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (31568225..31645460, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (31453948..31531169, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376611 Neighboring gene doublecortin domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:30992221-30992721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3218 Neighboring gene NANOG hESC enhancer GRCh37_chr11:31145398-31145899 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:31326823-31328022 Neighboring gene CYCS pseudogene 25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4556 Neighboring gene MPRA-validated peak1237 silencer Neighboring gene DnaJ heat shock protein family (Hsp40) member C24 Neighboring gene MPRA-validated peak1238 silencer Neighboring gene MPRA-validated peak1240 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:31531307-31532196 Neighboring gene HCNE8 enhancer downstream of PAX6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31566030-31566638 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:31565420-31566029 Neighboring gene RB enhancer downstream of PAX6 Neighboring gene elongator acetyltransferase complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4558 Neighboring gene E100 enhancer downstream of PAX6 Neighboring gene PAX6 downstream regulatory region Neighboring gene E60 enhancer downstream of PAX6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:31800787-31801986 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:31814755-31814968 Neighboring gene enhancer region in intron 7 of PAX6 Neighboring gene regulatory region in intron 4 of PAX6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:31827075-31827744 Neighboring gene PAX6 upstream regulatory region Neighboring gene PAX6 antisense RNA 1 Neighboring gene paired box 6 Neighboring gene PAX6 upstream antisense RNA

    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. Mitochondrial Protein Quality Control Mechanisms. Jadiya P, et al. Genes (Basel), 2020 May 18. PMID 32443488, Free PMC Article
    2. Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. Hoffmann TJ, et al. Hum Mol Genet, 2014 Dec 15. PMID 25027321, Free PMC Article
    3. Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. Burri L, et al. Mol Biol Cell, 2005 Jun. PMID 15814844, Free PMC Article
    4. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811
    5. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25059

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein processing involved in protein targeting to mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal peptide processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial inner membrane peptidase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial inner membrane peptidase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mitochondrial inner membrane protease subunit 1
    Names
    IMP1 inner mitochondrial membrane peptidase-like
    NP_001291203.1
    NP_659418.1
    XP_005252869.1
    XP_011518244.1
    XP_011518245.1
    XP_011518247.1
    XP_011518248.1
    XP_011518249.1
    XP_016872794.1
    XP_016872795.1
    XP_047282476.1
    XP_047282477.1
    XP_054223925.1
    XP_054223926.1
    XP_054223927.1
    XP_054223928.1
    XP_054223929.1
    XP_054223930.1
    XP_054223931.1
    XP_054223932.1
    XP_054223933.1
    XP_054223934.1

    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.

    mRNA and Protein(s)

    1. NM_001304274.2 → NP_001291203.1  mitochondrial inner membrane protease subunit 1

      See identical proteins and their annotated locations for NP_001291203.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC023595, DB288287
      Consensus CDS
      CCDS7874.1
      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Related
      ENSP00000435576.1, ENST00000532287.6
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    2. NM_144981.3 → NP_659418.1  mitochondrial inner membrane protease subunit 1

      See identical proteins and their annotated locations for NP_659418.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK057788, AW295209, DB288287
      Consensus CDS
      CCDS7874.1
      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Related
      ENSP00000278200.1, ENST00000278200.5
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      31432401..31509622 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426521.1 → XP_047282477.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    2. XM_011519947.3 → XP_011518249.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011518249.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    3. XM_011519945.3 → XP_011518247.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011518247.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    4. XM_047426520.1 → XP_047282476.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    5. XM_011519946.3 → XP_011518248.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011518248.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    6. XM_011519942.2 → XP_011518244.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011518244.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    7. XM_017017305.2 → XP_016872794.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    8. XM_017017306.2 → XP_016872795.1  mitochondrial inner membrane protease subunit 1 isoform X2

    9. XM_005252812.4 → XP_005252869.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_005252869.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    10. XM_011519943.3 → XP_011518245.1  mitochondrial inner membrane protease subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_011518245.1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9
      Conserved Domains (1) summary
      cd06530
      Location:33 → 141
      S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

    RNA

    1. XR_242781.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      31568225..31645460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367955.1 → XP_054223930.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    2. XM_054367952.1 → XP_054223927.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    3. XM_054367954.1 → XP_054223929.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    4. XM_054367957.1 → XP_054223932.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    5. XM_054367950.1 → XP_054223925.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    6. XM_054367953.1 → XP_054223928.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    7. XM_054367959.1 → XP_054223934.1  mitochondrial inner membrane protease subunit 1 isoform X2

    8. XM_054367956.1 → XP_054223931.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    9. XM_054367951.1 → XP_054223926.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    10. XM_054367958.1 → XP_054223933.1  mitochondrial inner membrane protease subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      D3DQZ7, Q96LU5, Q96SH9

    RNA

    1. XR_008488358.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LU5.1 GenPept UniProtKB/Swiss-Prot:Q96LU5

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