IMMP2L

Inner mitochondrial membrane peptidase subunit 2 (IMMP2L) is an enzyme that in humans is encoded by the IMMP2L gene on chromosome 7.[5][6] This protein 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. IMMP2L processes the nuclear encoded protein DIABLO.

IMMP2L
Identifiers
AliasesIMMP2L, IMMP2L-IT1, IMP2, IMP2-LIKE, inner mitochondrial membrane peptidase subunit 2
External IDsOMIM: 605977 MGI: 2135611 HomoloGene: 6607 GeneCards: IMMP2L
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q31.1Start110,662,644 bp[1]
End111,562,517 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

83943

93757

Ensembl

ENSG00000184903

ENSMUSG00000056899

UniProt

Q96T52

Q8BPT6

RefSeq (mRNA)

NM_053122

RefSeq (protein)

NP_444352

Location (UCSC)Chr 7: 110.66 – 111.56 MbChr 12: 41.02 – 41.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Structure

Gene

The gene IMMP2L encodes protein Inner mitochondrial membrane peptidase subunit 2 in human. The human IMMP2L gene has 18 exons and locates at chromosome band 7q31.[6]

Protein

The human protein Inner mitochondrial membrane peptidase subunit 2 has two isoforms due to alternative splicing. One isoform is 19.7 kDa in size and composed of 175 amino acids. The calculated theoretical pI of this protein isoform is 8.66. The other isoform is 12.3kDa in size and composed of 110 amino acids. The calculated theoretical pI of this protein isoform is 9.42.[7][8]

Function

As a peptidase, this protein 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 encoding DIABLO protein.

Clinical significance

Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. In the clinical characterization of a patient with GTS, Petek et al discovered a breakpoint in chromosome region 7q31. Additional characterization identified that IMMP2L, a novel gene coding for the apparent human homologue of the yeast mitochondrial inner membrane peptidase subunit 2, was found to be disrupted by both the breakpoint in the duplicated fragment and the insertion site in 7q31. It is the first association of IMMP2L gene to Tourette syndrome.[5] Recent investigation by Bertelsen et al. further indicated that IMMP2L was one of the genes as a susceptibility factor in disease pathogenesis. Tourette syndrome is often accompanied by comorbidities such as attention-deficit hyperactivity-disorder and obsessive compulsive disorder. Tourette syndrome has a complex etiology and the underlying environmental and genetic factors responsible for this disease are still largely unknown.[9]

References

  1. GRCh38: Ensembl release 89: ENSG00000184903 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000056899 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Petek E, Windpassinger C, Vincent JB, Cheung J, Boright AP, Scherer SW, Kroisel PM, Wagner K (Apr 2001). "Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome". American Journal of Human Genetics. 68 (4): 848–58. doi:10.1086/319523. PMC 1275638. PMID 11254443.
  6. "Entrez Gene: IMMP2L Inner mitochondrial membrane peptidase subunit 2".
  7. "Q96T52 - IMP2L_HUMAN". Uniprot.
  8. Kozlowski, LP (21 October 2016). "IPC - Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. PMC 5075173. PMID 27769290. Archived from the original on 29 April 2013. Retrieved 20 January 2020.
  9. Bertelsen B, Melchior L, Jensen LR, Groth C, Glenthøj B, Rizzo R, Debes NM, Skov L, Brøndum-Nielsen K, Paschou P, Silahtaroglu A, Tümer Z (Nov 2014). "Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome". European Journal of Human Genetics. 22 (11): 1283–9. doi:10.1038/ejhg.2014.24. PMC 4200436. PMID 24549057.
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