IMMP1L Gene (Protein Coding)

Inner Mitochondrial Membrane Peptidase Subunit 1

GC11M031432
GIFtS:
36
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] See more...

Aliases for IMMP1L Gene

Aliases for IMMP1L Gene

  • Inner Mitochondrial Membrane Peptidase Subunit 1 2 3 5
  • Mitochondrial Inner Membrane Protease Subunit 1 3 4
  • IMP1 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae) 2
  • IMP1 Inner Mitochondrial Membrane Peptidase-Like 3
  • IMP1-Like Protein 4
  • EC 3.4.21.- 4
  • IMP1-LIKE 3
  • FLJ25059 2
  • IMMP1L 5
  • IMMP1 3
  • IMP1 3

External Ids for IMMP1L Gene

Previous HGNC Symbols for IMMP1L Gene

  • IMMP1

Previous GeneCards Identifiers for IMMP1L Gene

  • GC11M031411
  • GC11M031148

Summaries for IMMP1L Gene

Entrez Gene Summary for IMMP1L Gene

  • 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]

GeneCards Summary for IMMP1L Gene

IMMP1L (Inner Mitochondrial Membrane Peptidase Subunit 1) is a Protein Coding gene. Diseases associated with IMMP1L include Gillespie Syndrome and Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome. Among its related pathways are Protein export. Gene Ontology (GO) annotations related to this gene include serine-type peptidase activity. An important paralog of this gene is IMMP2L.

UniProtKB/Swiss-Prot Summary for IMMP1L Gene

  • Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO.

Additional gene information for IMMP1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IMMP1L Gene

Genomics for IMMP1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IMMP1L Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J031508 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 606 -0.5 -456 4.2 BRCA1 SP1 CREB1 GATAD2A ZNF629 REST TFE3 RFX1 NFKBIZ RFX5 IMMP1L ELP4 lnc-DCDC1-5 MPPED2 PAX6 RCN1 piR-45012-079 ENSG00000285283
GH11J031504 Promoter 0.3 EPDnew 600.7 +4.7 4743 0.1 IMMP1L lnc-DCDC1-5 piR-40250-002 DNAJC24
GH11J031478 Enhancer 0.8 UCNEbase Ensembl 10.2 +31.7 31678 0.8 NR2F1 JUNB RCOR1 GATA2 EZH2 IMMP1L ELP4 LOC100506675 piR-40250-002 lnc-DCDC1-5 Hsa-Mir-3613_3p DNAJC24
GH11J031663 Enhancer 0.9 VISTA UCNEbase Ensembl 6.6 -154.2 -154224 2.9 POLR2A DCDC1 IMMP1L lnc-DNAJC24-6 lnc-DNAJC24-3 ENSG00000228061 ENSG00000285283 ELP4
GH11J031654 Enhancer 1 UCNEbase Ensembl ENCODE 5.8 -146.3 -146330 2 FOXA1 SP1 CEBPB FOSL2 MAFK JUND HLF IMMP1L lnc-DNAJC24-6 lnc-DNAJC24-3 ENSG00000228061 ELP4 ENSG00000285283
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMMP1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IMMP1L

Top Transcription factor binding sites by QIAGEN in the IMMP1L gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Egr-4
  • Hlf
  • Nkx6-1

Genomic Locations for IMMP1L Gene

Genomic Locations for IMMP1L Gene
chr11:31,432,401-31,509,645
(GRCh38/hg38)
Size:
77,245 bases
Orientation:
Minus strand
chr11:31,453,948-31,531,192
(GRCh37/hg19)
Size:
77,245 bases
Orientation:
Minus strand

Genomic View for IMMP1L Gene

Genes around IMMP1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMMP1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMMP1L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IMMP1L Gene

Proteins for IMMP1L Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for IMMP1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LU5-IMP1L_HUMAN
    Recommended name:
    Mitochondrial inner membrane protease subunit 1
    Protein Accession:
    Q96LU5
    Secondary Accessions:
    • D3DQZ7
    • Q96SH9

    Protein attributes for IMMP1L Gene

    Size:
    166 amino acids
    Molecular mass:
    18504 Da
    Quaternary structure:
    • Heterodimer of 2 subunits, IMMPL1 and IMMPL2.
    SequenceCaution:
    • Sequence=CAC39221.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for IMMP1L Gene

Protein Expression for IMMP1L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for IMMP1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IMMP1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IMMP1L Gene

Domains & Families for IMMP1L Gene

Gene Families for IMMP1L Gene

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

Protein Domains for IMMP1L Gene

InterPro:
Blocks:
  • Bacterial leader peptidase 1 (S26) family signature
ProtoNet:

Suggested Antigen Peptide Sequences for IMMP1L Gene

GenScript: Design optimal peptide antigens:
  • IMP1-like protein (IMP1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LU5

UniProtKB/Swiss-Prot:

IMP1L_HUMAN :
  • Belongs to the peptidase S26 family. IMP1 subfamily.
Family:
  • Belongs to the peptidase S26 family. IMP1 subfamily.
genes like me logo Genes that share domains with IMMP1L: view

Function for IMMP1L Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for IMMP1L Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO.

Enzyme Numbers (IUBMB) for IMMP1L Gene

Phenotypes From GWAS Catalog for IMMP1L Gene

Gene Ontology (GO) - Molecular Function for IMMP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with IMMP1L: view
genes like me logo Genes that share phenotypes with IMMP1L: view

Animal Model Products

  • Taconic Biosciences Mouse Models for IMMP1L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMMP1L

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IMMP1L Gene

Localization for IMMP1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for IMMP1L Gene

Mitochondrion inner membrane.

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 IMMP1L gene
Compartment Confidence
mitochondrion 4
extracellular 1
peroxisome 1
nucleus 1
cytosol 1
plasma membrane 0

Gene Ontology (GO) - Cellular Components for IMMP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS 15814844
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0042720 mitochondrial inner membrane peptidase complex IBA 21873635
genes like me logo Genes that share ontologies with IMMP1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for IMMP1L Gene

Pathways & Interactions for IMMP1L Gene

PathCards logo

SuperPathways for IMMP1L Gene

SuperPathway Contained pathways
1 Protein export
Protein export
-
genes like me logo Genes that share pathways with IMMP1L: view

Pathways by source for IMMP1L Gene

1 KEGG pathway for IMMP1L Gene

Gene Ontology (GO) - Biological Process for IMMP1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion IBA 21873635
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with IMMP1L: view

No data available for SIGNOR curated interactions for IMMP1L Gene

Drugs & Compounds for IMMP1L Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for IMMP1L Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IMMP1L Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IMMP1L

Alternative Splicing Database (ASD) splice patterns (SP) for IMMP1L Gene

No ASD Table

Relevant External Links for IMMP1L Gene

GeneLoc Exon Structure for
IMMP1L

Expression for IMMP1L Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IMMP1L Gene

mRNA expression in normal human tissues for IMMP1L Gene
mRNA expression by GTEx for IMMP1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IMMP1L Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IMMP1L Gene



Protein tissue co-expression partners for IMMP1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IMMP1L

SOURCE GeneReport for Unigene cluster for IMMP1L Gene:

Hs.502223

Evidence on tissue expression from TISSUES for IMMP1L Gene

  • Nervous system(4.4)
  • Eye(4.2)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with IMMP1L: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMMP1L Gene

Orthologs for IMMP1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMMP1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia IMMP1L 30 31
  • 100 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia IMMP1L 30 31
  • 96.39 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Immp1l 30 17 31
  • 91.57 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia IMMP1L 31
  • 90 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia IMMP1L 31
  • 89 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Immp1l 30
  • 88.76 (n)
Oppossum
(Monodelphis domestica)
 Mammalia IMMP1L 31
  • 84 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves IMMP1L 30 31
  • 80.12 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia IMMP1L 31
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia immp1l 30
  • 66.26 (n)
Str.4206 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.34230 30
Zebrafish
(Danio rerio)
 Actinopterygii immp1l 30 31
  • 67.89 (n)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.5528 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001682 30
  • 52.9 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9240 30 31
  • 49.54 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea immp-1 30 31
  • 48.15 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F07293g 30
  • 48.28 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IMP1 30 31 33
  • 46.34 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR269C 30
  • 41.01 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT1G53530 30
  • 46.93 (n)
Rice
(Oryza sativa)
 Liliopsida Os11g0620000 30
  • 45.78 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPBC2D10.07c 30
  • 47.38 (n)
Species where no ortholog for IMMP1L 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)
  • Bread mold (Neurospora crassa)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 IMMP1L Gene

ENSEMBL:
Gene Tree for IMMP1L (if available)
TreeFam:
Gene Tree for IMMP1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IMMP1L: view image

Paralogs for IMMP1L Gene

Paralogs for IMMP1L Gene

(1) SIMAP similar genes for IMMP1L Gene using alignment to 5 proteins:

  • IMP1L_HUMAN
  • E9PIG6_HUMAN
  • E9PNR7_HUMAN
  • E9PR99_HUMAN
  • H0YD09_HUMAN

Pseudogenes.org Pseudogenes for IMMP1L Gene

genes like me logo Genes that share paralogs with IMMP1L: view

Variants for IMMP1L Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for IMMP1L Gene

Structural Variations from Database of Genomic Variants (DGV) for IMMP1L Gene

Variant ID Type Subtype PubMed ID
dgv1740n54 CNV loss 21841781
esv2751022 CNV loss 17911159
esv3625828 CNV gain 21293372
nsv1046329 CNV loss 25217958
nsv1052451 CNV loss 25217958
nsv1134102 CNV deletion 24896259
nsv467785 CNV loss 19166990
nsv529004 CNV loss 19592680
nsv553949 CNV loss 21841781

Variation tolerance for IMMP1L Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IMMP1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMMP1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IMMP1L Gene

Disorders for IMMP1L Gene

MalaCards: The human disease database

(8) MalaCards diseases for IMMP1L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IMMP1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IMMP1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IMMP1L Gene

Publications for IMMP1L Gene

  1. Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. (PMID: 15814844) Burri L … Lithgow T (Molecular biology of the cell 2005) 2 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for IMMP1L gene in Mastermind

Products for IMMP1L Gene

Sources for IMMP1L Gene