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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IMMP1L Gene

protein-coding   GIFtS: 49
GCID: GC11M031411

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

 Explore 2 diseases affiliated with
IMMP1L via our new
 Human Malady Compendium 
Biological research products
for IMMP1L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
IMP1 Inner Mitochondrial Membrane Peptidase-Like (S. Cerevisiae)1 2     Mitochondrial Inner Membrane Protease Subunit 12
IMP12 5     EC 3.4.21.-3
FLJ250591     IMP1-Like Protein3
IMP1-LIKE2     

External Ids:    HGNC: 263171   Entrez Gene: 1962942   Ensembl: ENSG000001489507   OMIM: 6123235   UniProtKB: Q96LU53   

Export aliases for IMMP1L gene to outside databases

Previous GC identifer: GC11M031148


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IMMP1L:
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)

UniProtKB/Swiss-Prot: IMP1L_HUMAN, Q96LU5
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IMMP1L gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   Egr-4   E2F-1   E2F   Nkx6-1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIMMP1L promoter sequence
   Search SABiosciences Chromatin IP Primers for IMMP1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IMMP1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p13

IMMP1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IMMP1L gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M031411:  view genomic region     (about GC identifiers)

Start:
31,453,948 bp from pter      End:
31,531,192 bp from pter
Size:
77,245 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IMP1L_HUMAN, Q96LU5 (See protein sequence)
Recommended Name: Mitochondrial inner membrane protease subunit 1  
Size: 166 amino acids; 18504 Da
Subunit: Heterodimer of 2 subunits, IMMPL1 and IMMPL2 (By similarity)
Subcellular location: Mitochondrion inner membrane (Probable)
Sequence caution: Sequence=CAC39221.1; Type=Erroneous gene model prediction;
Secondary accessions: D3DQZ7 Q96SH9

Explore the universe of human proteins at neXtProt for IMMP1L: NX_Q96LU5

IMMP1L Protein expression data from MOPED and PaxDb:    About this image 
IMMP1L Protein Expression

REFSEQ proteins: NP_659418.1  
ENSEMBL proteins: 
 ENSP00000432670   ENSP00000435576   ENSP00000434280   ENSP00000432673   ENSP00000278200  
 ENSP00000432471   ENSP00000432001   ENSP00000432792  

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Uscn Proteins for IMMP1L

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion ISS15814844
GO:0005743mitochondrial inner membrane IEA--
GO:0016020membrane ----

IMMP1L for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for IMMP1L


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IMMP1L for domains           About GeneDecksing

5 InterPro domains/families:
 IPR019759 Peptidase_S24_S26
 IPR015927 Peptidase_S24_S26A/B/C
 IPR011056 Peptidase_S24_S26A/B/C_b-rbn
 IPR026730 Mitochondrial_IMP1
 IPR000223 Pept_S26A_signal_pept_1

Graphical View of Domain Structure for InterPro Entry Q96LU5

ProtoNet protein and cluster: Q96LU5

1 Blocks protein family: IPB000223 Bacterial leader peptidase 1 (S26) family signature

UniProtKB/Swiss-Prot: IMP1L_HUMAN, Q96LU5
Similarity: Belongs to the peptidase S26 family. IMP1 subfamily


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: IMP1L_HUMAN, Q96LU5
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 Number (IUBMB): EC 3.4.21.-1

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0008236serine-type peptidase activity IEA--
     
IMMP1L for ontologies           About GeneDecksing


Animal Models:
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for IMMP1L 

miRNA
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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Protein export
Protein export1.00

Pathway sources
See GeneCards unified pathways
Show all pathways



1         Kegg Pathway  (Kegg details for IMMP1L):
    Protein export


IMMP1L for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IMMP1L

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for IMMP1L (ENSP000002782004) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
IMMP2LENSP000003295534STRING: ENSP00000329553
YME1L1ENSP000003184804STRING: ENSP00000318480
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis IEA--
GO:0008150biological_process ND--

IMMP1L for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IMMP1L
Search CenterWatch for drugs/clinical trials and news about IMMP1L / IMP1L 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IMMP1L gene: 
NM_144981.1  

Unigene Cluster for IMMP1L:

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Hs.502223  [show with all ESTs]
Unigene Representative Sequence: AK311611
15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000531331 ENST00000532287 ENST00000526776 ENST00000534812 ENST00000533512
ENST00000278200(uc001msy.1 uc001msz.1) ENST00000533642 ENST00000527184
ENST00000528161(uc009yjo.3 uc009yjp.3) ENST00000532624 ENST00000529749
ENST00000530023 ENST00000531693 ENST00000532668 ENST00000533921

miRNA
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Clone
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Additional cDNA sequence: 

AK057788.1 AK310496.1 AK311611.1 BC023595.2 

16 DOTS entries:

DT.92425236  DT.100751361  DT.446499  DT.95168892  DT.100680785  DT.120707002  DT.40236437  DT.92425232 
DT.92425241  DT.95185356  DT.100751362  DT.92417760  DT.92425239  DT.95168895  DT.101955555  DT.412622 

24/63 AceView cDNA sequences (see all 63):

AI650959 AA534612 BC023595 AI990136 AA977197 AI475291 AA995349 AI829774 
BF475373 AJ711425 AA192558 BE672969 AW471046 AI796750 AW241588 AW008627 
AA788875 AI935556 NM_144981 AW076078 AK057788 AW295209 BF974021 BF433319 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IMMP1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGAATTTATT
IMMP1L Expression
About this image
See IMMP1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IMMP1L

SOURCE GeneReport for Unigene cluster: Hs.502223
    SABiosciences Expression via Pathway-Focused PCR Array including IMMP1L: 

          Mitochondria in human mouse rat

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In Situ
Assay Products:
 

 
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for IMMP1L gene from 9/28 species (see all 28)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves IMMP1L1 IMP1 inner mitochondrial membrane peptidase-like (S. more 80.12(n)
81.93(a)
  771365  XM_001233148.1  XP_001233149.1 
lizard
(Anolis carolinensis)
Reptilia IMMP1L6
--
82(a)
1 ↔ 1
1(60373514-60391493)
African clawed frog
(Xenopus laevis)
Amphibia Xl.342302 Xenopus laevis transcribed sequence with weak similarity more 71.64(n)    BJ618778.1 
zebrafish
(Danio rerio)
Actinopterygii immp1l1 IMP1 inner mitochondrial membrane peptidase-like (S. more 67.9(n)
71.6(a)
  795154  XM_001335227.3  XP_001335263.1 
fruit fly
(Drosophila melanogaster)
Insecta CG92401 CG9240 49.54(n)
52.05(a)
  32505  NM_132826.3  NP_573054.2 
worm
(Caenorhabditis elegans)
Secernentea immp-11 Protein IMMP-1 48.15(n)
44.44(a)
  182863  NM_067122.2  NP_499523.2 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMP1(YMR150C)4
IMP11
Catalytic subunit of the mitochondrial inner membrane more4
Imp1p1
48.62(n)1
42.11(a)1
  13(562528-561956)4
8551821, 4  NP_013870.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G535301 peptidase-S24/S26 domain-containing protein 46.71(n)
44.08(a)
  841788  NM_104231.3  NP_175758.2 
rice
(Oryza sativa)
Liliopsida Os11g06200001 hypothetical protein 46.53(n)
40.94(a)
  4350939  NM_001074823.1  NP_001068291.1 


ENSEMBL Gene Tree for IMMP1L (if available)
TreeFam Gene Tree for IMMP1L (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for IMMP1L gene
1 SIMAP similar gene for IMMP1L using alignment to 5 protein entries:     IMP1L_HUMAN (see all proteins):
IMMP2L

IMMP1L for paralogs           About GeneDecksing


5 Pseudogenes.org Pseudogenes for IMMP1L
PGOHUM00000242765 PGOHUM00000239931 PGOHUM00000237171 PGOHUM00000233099 PGOHUM00000241533


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/882 NCBI SNPs in IMMP1L are shown (see all 882    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1832041361,2
--31454901(+) TTCGGC/TGCAAC 1 -- int10--------
rs1873713671,2
--31454966(+) TTCTAA/GCTCAG 1 -- int10--------
rs37410281,2
C,F,H--31454975(+) AGAAAA/GTAAAC 1 -- int127Minor allele frequency- N:0.00EA NA NS WA 4436
rs1469151421,2
C--31455093(+) ACCTTC/G/TTAACC 3 K Q E mis11NA 4544
rs2012495981,2
--31455152(+) AAAGAC/TAAAAC 1 -- int10--------
rs1432206981,2
C--31455325(+) AACCT-/ATCATCTT 1 -- int10--------
rs1847877461,2
--31455389(+) AGGTTA/TTAAGA 1 -- int10--------
rs1886772421,2
--31455498(+) AAGCAC/GGGCAG 1 -- int10--------
rs564040061,2
C,F--31455606(+) AATAAT/ACTCAT 1 -- int13Minor allele frequency- A:0.20WA NA EA 358
rs1405359471,2
--31455641(+) GAATTC/GTAATT 1 -- int10--------

HapMap Linkage Disequilibrium report for IMMP1L (31453948 - 31531192 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for IMMP1L
     1 CNV: 9180

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

IMMP1L for disorders           About GeneDecksing

OMIM gene information: 612323    OMIM disorders: --

2 diseases for IMMP1L:    About MalaCards
aniridia    malaria

1 disease from the University of Copenhagen DISEASES database for IMMP1L:
Aniridia
Human Genome Epidemiology (HuGE) Navigator: IMMP1L (3 documents)

Export disorders for IMMP1L gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for IMMP1L gene integrated from 9 sources:
(articles sorted by number of sources associating them with IMMP1L)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)1, 2 Taylor T.D....Sakaki Y. (2006)
  2. Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane. (PubMed id 15814844)1, 2 Burri L.... Lithgow T. (2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
  6. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 196294 HGNC: 26317 AceView: FLJ25059 Ensembl:ENSG00000148950 euGenes: HUgn196294
ECgene: IMMP1L Kegg: 196294 H-InvDB: IMMP1L

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for IMMP1L Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for IMMP1L gene:
Search GeneIP for patents involving IMMP1L

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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