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Aliases for IMMP1L Gene

Aliases for IMMP1L Gene

  • Inner Mitochondrial Membrane Peptidase Subunit 1 2 3 5
  • IMP1 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae) 2
  • IMP1 Inner Mitochondrial Membrane Peptidase-Like 3
  • Mitochondrial Inner Membrane Protease Subunit 1 3
  • IMP1-Like Protein 4
  • EC 3.4.21.- 4
  • IMP1-LIKE 3
  • 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. Among its related pathways are Protein export. GO annotations related to this gene include serine-type peptidase activity.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IMMP1L Gene

Genomics for IMMP1L Gene

Regulatory Elements for IMMP1L Gene

Enhancers for IMMP1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G031639 1.7 dbSUPER 6.6 -132.7 -132712 4.9 CTCF PKNOX1 CHD7 RAD21 YY1 GATA3 POLR2A ZNF366 SMC3 ZNF654 DCDC1 IMMP1L GC11P031684 ELP4
GH11G031663 1.6 VISTA 6.6 -154.9 -154928 1.5 EP300 IMMP1L GC11P031684 ELP4
GH11G031654 1.8 Ensembl ENCODE 5.8 -146.1 -146092 1.6 JUND HLF MAFK TCF7L2 IMMP1L GC11P031684 ELP4
GH11G031508 1.1 ENCODE 6.1 -0.4 -412 3.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 IMMP1L ELP4 GC11P031684
GH11G031627 0.7 dbSUPER 6.6 -118.9 -118927 2.4 PKNOX1 RFX1 MTA2 NR2F1 DPF2 TBX21 EP300 TARDBP RELB MAFK IMMP1L GC11P031684 ELP4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IMMP1L on UCSC Golden Path with GeneCards custom track

Promoters for IMMP1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000038387 -155 2401 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for IMMP1L Gene

Chromosome:
11
Start:
31,432,399 bp from pter
End:
31,509,645 bp from pter
Size:
77,247 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 StructureGene Density

RefSeq DNA sequence for IMMP1L Gene

Proteins for IMMP1L Gene

  • 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

Post-translational modifications for IMMP1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IMMP1L Gene

Domains & Families for IMMP1L Gene

Suggested Antigen Peptide Sequences for IMMP1L Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for IMMP1L Gene

Function for IMMP1L Gene

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

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

Flow Cytometry Products

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 5
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
cytosol 1

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 --
genes like me logo Genes that share ontologies with IMMP1L: view

Pathways & Interactions for IMMP1L Gene

SuperPathways for IMMP1L Gene

SuperPathway Contained pathways
1 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:0006465 signal peptide processing IBA --
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion IEA,IBA --
GO:0008150 biological_process ND --
GO:0033108 mitochondrial respiratory chain complex assembly IBA --
genes like me logo Genes that share ontologies with IMMP1L: view

No data available for SIGNOR curated interactions for IMMP1L Gene

Transcripts for IMMP1L Gene

Unigene Clusters for IMMP1L Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for IMMP1L Gene

GeneLoc Exon Structure for
IMMP1L
ECgene alternative splicing isoforms for
IMMP1L

Expression for IMMP1L Gene

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



Protein tissue co-expression partners for IMMP1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IMMP1L Gene:

IMMP1L

SOURCE GeneReport for Unigene cluster for IMMP1L Gene:

Hs.502223

Evidence on tissue expression from TISSUES for IMMP1L Gene

  • Nervous system(4.2)
  • Eye(4)
genes like me logo Genes that share expression patterns with IMMP1L: view

Primer Products

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 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia IMMP1L 34 35
  • 96.39 (n)
mouse
(Mus musculus)
Mammalia Immp1l 34 16 35
  • 91.57 (n)
cow
(Bos Taurus)
Mammalia IMMP1L 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IMMP1L 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Immp1l 34
  • 88.76 (n)
oppossum
(Monodelphis domestica)
Mammalia IMMP1L 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves IMMP1L 34 35
  • 80.12 (n)
lizard
(Anolis carolinensis)
Reptilia IMMP1L 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia immp1l 34
  • 66.26 (n)
Str.4206 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.34230 34
zebrafish
(Danio rerio)
Actinopterygii immp1l 34 35
  • 67.89 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5528 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001682 34
  • 52.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9240 34 35
  • 49.54 (n)
worm
(Caenorhabditis elegans)
Secernentea immp-1 34 35
  • 48.15 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07293g 34
  • 48.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMP1 34 35 37
  • 46.34 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR269C 34
  • 41.01 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G53530 34
  • 46.93 (n)
rice
(Oryza sativa)
Liliopsida Os11g0620000 34
  • 45.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC2D10.07c 34
  • 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 squirt (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)

Paralogs for IMMP1L Gene

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

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

No data available for Paralogs for IMMP1L Gene

Variants for IMMP1L Gene

Sequence variations from dbSNP and Humsavar for IMMP1L Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000013263 -- 31,436,468(+) TGCTC(C/T)GTTGC intron-variant
rs1000039254 -- 31,459,013(+) TGGGG(C/T)TAGGT intron-variant
rs1000047292 -- 31,496,200(+) ACAAA(C/T)GGCCA intron-variant
rs1000232629 -- 31,479,160(+) ATTTG(C/T)GATGG intron-variant
rs1000247874 -- 31,485,576(+) CTTAT(A/T)GTCAG intron-variant

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)

Relevant External Links for IMMP1L Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IMMP1L Gene

Disorders for IMMP1L Gene

Relevant External Links for IMMP1L

Genetic Association Database (GAD)
IMMP1L
Human Genome Epidemiology (HuGE) Navigator
IMMP1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IMMP1L

No disorders were found for IMMP1L Gene.

No data available for MalaCards , 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. (Mol. Biol. Cell 2005) 2 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for IMMP1L Gene

Sources for IMMP1L Gene

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