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Q96T52 (IMP2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial inner membrane protease subunit 2

EC=3.4.21.-
Alternative name(s):
IMP2-like protein
Gene names
Name:IMMP2L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length175 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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. Ref.4

Subunit structure

Heterodimer of 2 subunits, IMMPL1 and IMMPL2 By similarity.

Subcellular location

Mitochondrion inner membrane; Single-pass membrane protein Probable Ref.4.

Tissue specificity

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

Involvement in disease

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. Ref.1

Sequence similarities

Belongs to the peptidase S26 family. IMP2 subfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96T52-1)

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.
Isoform 2 (identifier: Q96T52-2)

The sequence of this isoform differs from the canonical sequence as follows:
     103-110: TIGHKNRY → DGRKLKRI
     111-175: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 175175Mitochondrial inner membrane protease subunit 2
PRO_0000259577

Regions

Transmembrane19 – 3719Helical; Potential

Sites

Active site431 By similarity
Active site911 By similarity

Natural variations

Alternative sequence103 – 1108TIGHKNRY → DGRKLKRI in isoform 2.
VSP_021474
Alternative sequence111 – 17565Missing in isoform 2.
VSP_021475

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: F328B36EA1BED29F

FASTA17519,718
        10         20         30         40         50         60 
MAQSQGWVKR YIKAFCKGFF VAVPVAVTFL DRVACVARVE GASMQPSLNP GGSQSSDVVL 

        70         80         90        100        110        120 
LNHWKVRNFE VHRGDIVSLV SPKNPEQKII KRVIALEGDI VRTIGHKNRY VKVPRGHIWV 

       130        140        150        160        170 
EGDHHGHSFD SNSFGPVSLG LLHAHATHIL WPPERWQKLE SVLPPERLPV QREEE 

« Hide

Isoform 2 [UniParc].

Checksum: A8A5A2CB8B120D4F
Show »

FASTA11012,259

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001231535.1. NM_001244606.1.
NP_115938.1. NM_032549.3.
XP_005250686.1. XM_005250629.1.
XP_005250687.1. XM_005250630.2.
XP_005250689.1. XM_005250632.1.
UniGeneHs.655722.
Hs.731706.

3D structure databases

ProteinModelPortalQ96T52.
SMRQ96T52. Positions 69-147.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123826. 2 interactions.
STRING9606.ENSP00000329553.

Protein family/group databases

MEROPSS26.012.

Polymorphism databases

DMDM74752143.

Proteomic databases

PaxDbQ96T52.
PRIDEQ96T52.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331762; 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]
GeneID83943.
KEGGhsa:83943.
UCSCuc003vfq.2. human. [Q96T52-1]
uc003vfr.3. human. [Q96T52-2]

Organism-specific databases

CTD83943.
GeneCardsGC07M110303.
HGNCHGNC:14598. IMMP2L.
HPAHPA026711.
MIM137580. phenotype.
605977. gene.
neXtProtNX_Q96T52.
Orphanet856. Tourette syndrome.
PharmGKBPA134887258.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0681.
HOVERGENHBG081792.
InParanoidQ96T52.
KOK09648.
OMAVEGDHTG.
OrthoDBEOG7DC25T.
PhylomeDBQ96T52.
TreeFamTF315065.

Gene expression databases

ArrayExpressQ96T52.
BgeeQ96T52.
CleanExHS_IMMP2L.
GenevestigatorQ96T52.

Family and domain databases

Gene3D2.10.109.10. 1 hit.
InterProIPR000223. 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]
PANTHERPTHR12383. PTHR12383. 1 hit.
PfamPF00717. Peptidase_S24. 1 hit.
[Graphical view]
PRINTSPR00727. LEADERPTASE.
SUPFAMSSF51306. SSF51306. 1 hit.
TIGRFAMsTIGR02227. sigpep_I_bact. 1 hit.
PROSITEPS00761. SPASE_I_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIMMP2L. human.
GenomeRNAi83943.
NextBio73085.
PROQ96T52.
SOURCESearch...

Entry information

Entry nameIMP2L_HUMAN
AccessionPrimary (citable) accession number: Q96T52
Secondary accession number(s): Q75MF1 expand/collapse secondary AC list , Q75MN9, Q75MP0, Q75MS5, Q75MS8, Q96HJ2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Peptidase families

Classification of peptidase families and list of entries

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM