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Protein

Mitochondrial inner membrane protease subunit 2

Gene

IMMP2L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

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.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei43 – 431By similarity
Active sitei91 – 911By similarity

GO - Molecular functioni

  • peptidase activity Source: UniProtKB
  • serine-type peptidase activity Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease

Protein family/group databases

MEROPSiS26.A09.

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial inner membrane protease subunit 2 (EC:3.4.21.-)
Alternative name(s):
IMP2-like protein
Gene namesi
Name:IMMP2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:14598. IMMP2L.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei19 – 3719HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • integral component of membrane Source: UniProtKB-KW
  • mitochondrial inner membrane peptidase complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Gilles de la Tourette syndrome (GTS)1 Publication

The disease may be caused by mutations affecting the gene represented in this entry.

Disease descriptionNeurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities.

See also OMIM:137580

Organism-specific databases

MIMi137580. phenotype.
Orphaneti856. Tourette syndrome.
PharmGKBiPA134887258.

Polymorphism and mutation databases

BioMutaiIMMP2L.
DMDMi74752143.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 175175Mitochondrial inner membrane protease subunit 2PRO_0000259577Add
BLAST

Proteomic databases

MaxQBiQ96T52.
PaxDbiQ96T52.
PRIDEiQ96T52.

Expressioni

Tissue specificityi

Expressed in all tissues tested except adult liver and lung.1 Publication

Gene expression databases

BgeeiQ96T52.
CleanExiHS_IMMP2L.
ExpressionAtlasiQ96T52. baseline and differential.
GenevisibleiQ96T52. HS.

Organism-specific databases

HPAiHPA026711.

Interactioni

Subunit structurei

Heterodimer of 2 subunits, IMMPL1 and IMMPL2.By similarity

Protein-protein interaction databases

BioGridi123826. 1 interaction.
STRINGi9606.ENSP00000329553.

Structurei

3D structure databases

ProteinModelPortaliQ96T52.
SMRiQ96T52. Positions 69-147.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S26 family. IMP2 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0681.
GeneTreeiENSGT00550000075044.
HOVERGENiHBG081792.
InParanoidiQ96T52.
KOiK09648.
OMAiDCVGYVA.
OrthoDBiEOG7DC25T.
PhylomeDBiQ96T52.
TreeFamiTF315065.

Family and domain databases

Gene3Di2.10.109.10. 1 hit.
InterProiIPR000223. Pept_S26A_signal_pept_1.
IPR019758. Pept_S26A_signal_pept_1_CS.
IPR028360. Peptidase_S24/S26_b-rbn.
IPR019759. Peptidase_S24_S26.
IPR015927. Peptidase_S24_S26A/B/C.
[Graphical view]
PANTHERiPTHR12383. PTHR12383. 1 hit.
PfamiPF00717. Peptidase_S24. 1 hit.
[Graphical view]
PRINTSiPR00727. LEADERPTASE.
SUPFAMiSSF51306. SSF51306. 1 hit.
TIGRFAMsiTIGR02227. sigpep_I_bact. 1 hit.
PROSITEiPS00761. SPASE_I_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96T52-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQSQGWVKR YIKAFCKGFF VAVPVAVTFL DRVACVARVE GASMQPSLNP
60 70 80 90 100
GGSQSSDVVL LNHWKVRNFE VHRGDIVSLV SPKNPEQKII KRVIALEGDI
110 120 130 140 150
VRTIGHKNRY VKVPRGHIWV EGDHHGHSFD SNSFGPVSLG LLHAHATHIL
160 170
WPPERWQKLE SVLPPERLPV QREEE
Length:175
Mass (Da):19,718
Last modified:December 1, 2001 - v1
Checksum:iF328B36EA1BED29F
GO
Isoform 2 (identifier: Q96T52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     103-110: TIGHKNRY → DGRKLKRI
     111-175: Missing.

Note: No experimental confirmation available.
Show »
Length:110
Mass (Da):12,259
Checksum:iA8A5A2CB8B120D4F
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei103 – 1108TIGHKNRY → DGRKLKRI in isoform 2. 1 PublicationVSP_021474
Alternative sequencei111 – 17565Missing in isoform 2. 1 PublicationVSP_021475Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359563 mRNA. Translation: AAK52905.1.
AC005161 Genomic DNA. Translation: AAS07432.1.
AC005166 Genomic DNA. Translation: AAS02043.1.
AC006392 Genomic DNA. Translation: AAS07496.1.
AC006392 Genomic DNA. Translation: AAS07497.1.
AC073326 Genomic DNA. Translation: AAS07528.1.
BC008497 mRNA. Translation: AAH08497.1.
CCDSiCCDS5753.1. [Q96T52-1]
RefSeqiNP_001231535.1. NM_001244606.1. [Q96T52-1]
NP_115938.1. NM_032549.3. [Q96T52-1]
XP_005250687.1. XM_005250630.3. [Q96T52-1]
UniGeneiHs.655722.
Hs.670103.
Hs.731706.

Genome annotation databases

EnsembliENST00000331762; ENSP00000329553; ENSG00000184903. [Q96T52-1]
ENST00000405709; ENSP00000384966; ENSG00000184903. [Q96T52-1]
ENST00000447215; ENSP00000388327; ENSG00000184903. [Q96T52-2]
ENST00000452895; ENSP00000399353; ENSG00000184903. [Q96T52-1]
GeneIDi83943.
KEGGihsa:83943.
UCSCiuc003vfq.2. human. [Q96T52-1]
uc003vfr.3. human. [Q96T52-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359563 mRNA. Translation: AAK52905.1.
AC005161 Genomic DNA. Translation: AAS07432.1.
AC005166 Genomic DNA. Translation: AAS02043.1.
AC006392 Genomic DNA. Translation: AAS07496.1.
AC006392 Genomic DNA. Translation: AAS07497.1.
AC073326 Genomic DNA. Translation: AAS07528.1.
BC008497 mRNA. Translation: AAH08497.1.
CCDSiCCDS5753.1. [Q96T52-1]
RefSeqiNP_001231535.1. NM_001244606.1. [Q96T52-1]
NP_115938.1. NM_032549.3. [Q96T52-1]
XP_005250687.1. XM_005250630.3. [Q96T52-1]
UniGeneiHs.655722.
Hs.670103.
Hs.731706.

3D structure databases

ProteinModelPortaliQ96T52.
SMRiQ96T52. Positions 69-147.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123826. 1 interaction.
STRINGi9606.ENSP00000329553.

Protein family/group databases

MEROPSiS26.A09.

Polymorphism and mutation databases

BioMutaiIMMP2L.
DMDMi74752143.

Proteomic databases

MaxQBiQ96T52.
PaxDbiQ96T52.
PRIDEiQ96T52.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331762; ENSP00000329553; ENSG00000184903. [Q96T52-1]
ENST00000405709; ENSP00000384966; ENSG00000184903. [Q96T52-1]
ENST00000447215; ENSP00000388327; ENSG00000184903. [Q96T52-2]
ENST00000452895; ENSP00000399353; ENSG00000184903. [Q96T52-1]
GeneIDi83943.
KEGGihsa:83943.
UCSCiuc003vfq.2. human. [Q96T52-1]
uc003vfr.3. human. [Q96T52-2]

Organism-specific databases

CTDi83943.
GeneCardsiGC07M110303.
HGNCiHGNC:14598. IMMP2L.
HPAiHPA026711.
MIMi137580. phenotype.
605977. gene.
neXtProtiNX_Q96T52.
Orphaneti856. Tourette syndrome.
PharmGKBiPA134887258.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0681.
GeneTreeiENSGT00550000075044.
HOVERGENiHBG081792.
InParanoidiQ96T52.
KOiK09648.
OMAiDCVGYVA.
OrthoDBiEOG7DC25T.
PhylomeDBiQ96T52.
TreeFamiTF315065.

Miscellaneous databases

ChiTaRSiIMMP2L. human.
GenomeRNAii83943.
NextBioi73085.
PROiQ96T52.
SOURCEiSearch...

Gene expression databases

BgeeiQ96T52.
CleanExiHS_IMMP2L.
ExpressionAtlasiQ96T52. baseline and differential.
GenevisibleiQ96T52. HS.

Family and domain databases

Gene3Di2.10.109.10. 1 hit.
InterProiIPR000223. Pept_S26A_signal_pept_1.
IPR019758. Pept_S26A_signal_pept_1_CS.
IPR028360. Peptidase_S24/S26_b-rbn.
IPR019759. Peptidase_S24_S26.
IPR015927. Peptidase_S24_S26A/B/C.
[Graphical view]
PANTHERiPTHR12383. PTHR12383. 1 hit.
PfamiPF00717. Peptidase_S24. 1 hit.
[Graphical view]
PRINTSiPR00727. LEADERPTASE.
SUPFAMiSSF51306. SSF51306. 1 hit.
TIGRFAMsiTIGR02227. sigpep_I_bact. 1 hit.
PROSITEiPS00761. SPASE_I_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome."
    Petek E., Windpassinger C., Vincent J.B., Cheung J., Boright A.P., Scherer S.W., Kroisel P.M., Wagner K.
    Am. J. Hum. Genet. 68:848-858(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), POSSIBLE INVOLVEMENT IN GTS, TISSUE SPECIFICITY.
  2. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "Mature DIABLO/Smac is produced by the IMP protease complex on the mitochondrial inner membrane."
    Burri L., Strahm Y., Hawkins C.J., Gentle I.E., Puryer M.A., Verhagen A., Callus B., Vaux D., Lithgow T.
    Mol. Biol. Cell 16:2926-2933(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiIMP2L_HUMAN
AccessioniPrimary (citable) accession number: Q96T52
Secondary accession number(s): Q75MF1
, Q75MN9, Q75MP0, Q75MS5, Q75MS8, Q96HJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: December 1, 2001
Last modified: June 24, 2015
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.