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Q96T52

- IMP2L_HUMAN

UniProt

Q96T52 - IMP2L_HUMAN

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
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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

    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 1 Publication; Single-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. mitochondrial inner membrane peptidase complex Source: UniProtKB

    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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

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

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the peptidase S26 family. IMP2 subfamily.Curated

    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. 1 PublicationVSP_021474
    Alternative sequencei111 – 17565Missing in isoform 2. 1 PublicationVSP_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]
    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 ]
    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

    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: October 1, 2014
    This is version 94 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