Q96T52 (IMP2L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mitochondrial inner membrane protease subunit 2
EC=3.4.21.-

Alternative name(s):
IMP2-like protein

Gene names

Name:

IMMP2L

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	175 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Molecular function	Hydrolase Protease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ovarian follicle development Inferred from electronic annotation. Source: Compara ovulation Inferred from electronic annotation. Source: Compara protein processing involved in protein targeting to mitochondrion Inferred from sequence or structural similarity Ref.4. Source: UniProtKB proteolysis Inferred from electronic annotation. Source: UniProtKB-KW spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW mitochondrial inner membrane peptidase complex Inferred from sequence or structural similarity Ref.4. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA
Molecular_function	peptidase activity Inferred from sequence or structural similarity Ref.4. Source: UniProtKB serine-type peptidase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 175	175	Mitochondrial inner membrane protease subunit 2		PRO_0000259577
Regions
	Transmembrane	19 – 37	19	Helical; Potential
Sites
	Active site	43	1	By similarity
	Active site	91	1	By similarity
Natural variations
	Alternative sequence	103 – 110	8	TIGHKNRY → DGRKLKRI in isoform 2.		VSP_021474
	Alternative sequence	111 – 175	65	Missing in isoform 2.		VSP_021475

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: F328B36EA1BED29F	FASTA	175	19,718
	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
	Isoform 2 [UniParc]. Checksum: A8A5A2CB8B120D4F	FASTA	110	12,259
	10 20 30 40 50 60 MAQSQGWVKR YIKAFCKGFF VAVPVAVTFL DRVACVARVE GASMQPSLNP GGSQSSDVVL 70 80 90 100 110 LNHWKVRNFE VHRGDIVSLV SPKNPEQKII KRVIALEGDI VRDGRKLKRI

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00045908. IPI00157157.
RefSeq	NP_001231535.1. NM_001244606.1. NP_115938.1. NM_032549.3.
UniGene	Hs.655722. Hs.731706.
3D structure databases
ProteinModelPortal	Q96T52.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000329553.
Protein family/group databases
MEROPS	S26.012.
Polymorphism databases
DMDM	74752143.
Proteomic databases
PaxDb	Q96T52.
PRIDE	Q96T52.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331762; ENSP00000329553; ENSG00000184903. ENST00000405709; ENSP00000384966; ENSG00000184903. ENST00000415362; ENSP00000405473; ENSG00000184903. ENST00000437687; ENSP00000394387; ENSG00000184903. ENST00000447215; ENSP00000388327; ENSG00000184903. ENST00000452895; ENSP00000399353; ENSG00000184903.
GeneID	83943.
KEGG	hsa:83943.
UCSC	uc003vfq.2. human. uc003vfr.3. human.
Organism-specific databases
CTD	83943.
GeneCards	GC07M110303.
HGNC	HGNC:14598. IMMP2L.
HPA	HPA026711.
MIM	137580. phenotype. 605977. gene.
neXtProt	NX_Q96T52.
Orphanet	856. Tourette syndrome.
PharmGKB	PA134887258.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0681.
HOVERGEN	HBG081792.
InParanoid	Q96T52.
KO	K09648.
OMA	CWVEGDH.
OrthoDB	EOG46T32M.
PhylomeDB	Q96T52.
Gene expression databases
ArrayExpress	Q96T52.
Bgee	Q96T52.
CleanEx	HS_IMMP2L.
Genevestigator	Q96T52.
GermOnline	ENSG00000184903. Homo sapiens.
Family and domain databases
Gene3D	2.10.109.10. 1 hit.
InterPro	IPR026726. Mitochondrial_IMP2. IPR000223. Pept_S26A_signal_pept_1. IPR019758. Pept_S26A_signal_pept_1_CS. IPR019759. Peptidase_S24_S26. IPR015927. Peptidase_S24_S26A/B/C. IPR011056. Peptidase_S24_S26A/B/C_b-rbn. [Graphical view]
PANTHER	PTHR12383. PTHR12383. 1 hit. PTHR12383:SF3. PTHR12383:SF3. 1 hit.
Pfam	PF00717. Peptidase_S24. 1 hit. [Graphical view]
PRINTS	PR00727. LEADERPTASE.
SUPFAM	SSF51306. Pept_S24_S26_C. 1 hit.
TIGRFAMs	TIGR02227. sigpep_I_bact. 1 hit.
PROSITE	PS00501. SPASE_I_1. False negative. PS00760. SPASE_I_2. False negative. PS00761. SPASE_I_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IMMP2L. human.
GenomeRNAi	83943.
NextBio	73085.
SOURCE	Search...

Entry information

Entry name

IMP2L_HUMAN

Accession

Primary (citable) accession number: Q96T52
Secondary accession number(s): Q75MF1 , Q75MN9, Q75MP0, Q75MS5, Q75MS8, Q96HJ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	December 1, 2001
Last modified:	May 1, 2013
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.