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Q96T52

- IMP2L_HUMAN

UniProt

Q96T52 - IMP2L_HUMAN

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Protein

Mitochondrial inner membrane protease subunit 2

Gene
IMMP2L
Organism
Homo sapiens (Human)
Status
Reviewed - 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 – 431 By similarity
Active sitei91 – 911 By similarity

GO - Molecular functioni

  1. peptidase activity Source: UniProtKB
  2. serine-type peptidase activity Source: InterPro

GO - Biological processi

  1. ovarian follicle development Source: Ensembl
  2. ovulation Source: Ensembl
  3. protein processing involved in protein targeting to mitochondrion Source: UniProtKB
  4. spermatogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease

Protein family/group databases

MEROPSiS26.012.

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: Chromosome 7

Organism-specific databases

HGNCiHGNC:14598. IMMP2L.

Subcellular locationi

Mitochondrion inner membrane; Single-pass membrane protein Inferred 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei19 – 3719Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. 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) [MIM:137580]: Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities.
Note: The disease may be caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

MIMi137580. phenotype.
Orphaneti856. Tourette syndrome.
PharmGKBiPA134887258.

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

ArrayExpressiQ96T52.
BgeeiQ96T52.
CleanExiHS_IMMP2L.
GenevestigatoriQ96T52.

Organism-specific databases

HPAiHPA026711.

Interactioni

Subunit structurei

Heterodimer of 2 subunits, IMMPL1 and IMMPL2 By similarity.

Protein-protein interaction databases

BioGridi123826. 2 interactions.
STRINGi9606.ENSP00000329553.

Structurei

3D structure databases

ProteinModelPortaliQ96T52.
SMRiQ96T52. Positions 70-149.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0681.
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. Align

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

MAQSQGWVKR YIKAFCKGFF VAVPVAVTFL DRVACVARVE GASMQPSLNP    50
GGSQSSDVVL LNHWKVRNFE VHRGDIVSLV SPKNPEQKII KRVIALEGDI 100
VRTIGHKNRY VKVPRGHIWV EGDHHGHSFD SNSFGPVSLG LLHAHATHIL 150
WPPERWQKLE SVLPPERLPV QREEE 175
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. VSP_021474
Alternative sequencei111 – 17565Missing in isoform 2. VSP_021475Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005250686.1. XM_005250629.1. [Q96T52-1]
XP_005250687.1. XM_005250630.2. [Q96T52-1]
XP_005250689.1. XM_005250632.1. [Q96T52-2]
UniGeneiHs.655722.
Hs.731706.

Genome annotation databases

EnsembliENST00000331762; ENSP00000329553; ENSG00000184903. [Q96T52-1]
ENST00000405709; ENSP00000384966; ENSG00000184903. [Q96T52-1]
ENST00000415362; ENSP00000405473; ENSG00000184903. [Q96T52-1]
ENST00000437687; ENSP00000394387; ENSG00000184903. [Q96T52-2]
ENST00000447215; ENSP00000388327; ENSG00000184903. [Q96T52-2]
ENST00000452895; ENSP00000399353; ENSG00000184903. [Q96T52-1]
GeneIDi83943.
KEGGihsa:83943.
UCSCiuc003vfq.2. human. [Q96T52-1]
uc003vfr.3. human. [Q96T52-2]

Polymorphism databases

DMDMi74752143.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5753.1. [Q96T52-1 ]
RefSeqi NP_001231535.1. NM_001244606.1. [Q96T52-1 ]
NP_115938.1. NM_032549.3. [Q96T52-1 ]
XP_005250686.1. XM_005250629.1. [Q96T52-1 ]
XP_005250687.1. XM_005250630.2. [Q96T52-1 ]
XP_005250689.1. XM_005250632.1. [Q96T52-2 ]
UniGenei Hs.655722.
Hs.731706.

3D structure databases

ProteinModelPortali Q96T52.
SMRi Q96T52. Positions 70-149.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123826. 2 interactions.
STRINGi 9606.ENSP00000329553.

Protein family/group databases

MEROPSi S26.012.

Polymorphism databases

DMDMi 74752143.

Proteomic databases

MaxQBi Q96T52.
PaxDbi Q96T52.
PRIDEi Q96T52.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331762 ; ENSP00000329553 ; ENSG00000184903 . [Q96T52-1 ]
ENST00000405709 ; ENSP00000384966 ; ENSG00000184903 . [Q96T52-1 ]
ENST00000415362 ; ENSP00000405473 ; ENSG00000184903 . [Q96T52-1 ]
ENST00000437687 ; ENSP00000394387 ; ENSG00000184903 . [Q96T52-2 ]
ENST00000447215 ; ENSP00000388327 ; ENSG00000184903 . [Q96T52-2 ]
ENST00000452895 ; ENSP00000399353 ; ENSG00000184903 . [Q96T52-1 ]
GeneIDi 83943.
KEGGi hsa:83943.
UCSCi uc003vfq.2. human. [Q96T52-1 ]
uc003vfr.3. human. [Q96T52-2 ]

Organism-specific databases

CTDi 83943.
GeneCardsi GC07M110303.
HGNCi HGNC:14598. IMMP2L.
HPAi HPA026711.
MIMi 137580. phenotype.
605977. gene.
neXtProti NX_Q96T52.
Orphaneti 856. Tourette syndrome.
PharmGKBi PA134887258.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0681.
HOVERGENi HBG081792.
InParanoidi Q96T52.
KOi K09648.
OMAi DCVGYVA.
OrthoDBi EOG7DC25T.
PhylomeDBi Q96T52.
TreeFami TF315065.

Miscellaneous databases

ChiTaRSi IMMP2L. human.
GenomeRNAii 83943.
NextBioi 73085.
PROi Q96T52.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96T52.
Bgeei Q96T52.
CleanExi HS_IMMP2L.
Genevestigatori Q96T52.

Family and domain databases

Gene3Di 2.10.109.10. 1 hit.
InterProi IPR000223. 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 ]
PANTHERi PTHR12383. PTHR12383. 1 hit.
Pfami PF00717. Peptidase_S24. 1 hit.
[Graphical view ]
PRINTSi PR00727. LEADERPTASE.
SUPFAMi SSF51306. SSF51306. 1 hit.
TIGRFAMsi TIGR02227. sigpep_I_bact. 1 hit.
PROSITEi PS00761. SPASE_I_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 93 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

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