PPT2

Protein-coding gene in the species Homo sapiens
PPT2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1PJA

Identifiers
AliasesPPT2, C6orf8, G14, PPT-2, palmitoyl-protein thioesterase 2
External IDsOMIM: 603298; MGI: 1860075; HomoloGene: 10448; GeneCards: PPT2; OMA:PPT2 - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for PPT2
Genomic location for PPT2
Band6p21.32Start32,153,441 bp[1]
End32,163,678 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for PPT2
Genomic location for PPT2
Band17 B1|17 18.19 cMStart34,835,636 bp[2]
End34,847,484 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tibial nerve

  • left uterine tube

  • canal of the cervix

  • vagina

  • gastric mucosa

  • skin of abdomen

  • myometrium

  • fundus

  • placenta

  • sural nerve
Top expressed in
  • otic placode

  • proximal tubule

  • saccule

  • ankle

  • external carotid artery

  • kidney

  • internal carotid artery

  • molar

  • calvaria

  • yolk sac
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • hydrolase activity
  • thiolester hydrolase activity
  • palmitoyl-(protein) hydrolase activity
  • palmitoyl hydrolase activity
Cellular component
  • lysosome
  • lysosomal lumen
  • extracellular exosome
  • intracellular membrane-bounded organelle
  • integral component of membrane
  • membrane
Biological process
  • macromolecule depalmitoylation
  • fatty-acyl-CoA biosynthetic process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

9374

54397

Ensembl
ENSG00000227600
ENSG00000231618
ENSG00000168452
ENSG00000228116
ENSG00000236649

ENSG00000206256
ENSG00000206329
ENSG00000221988

ENSMUSG00000015474

UniProt

Q9UMR5

O35448

RefSeq (mRNA)

NM_138934
NM_001204103
NM_005155
NM_138717

NM_019441
NM_001302393
NM_001302394
NM_001302395
NM_001302396

RefSeq (protein)

NP_001191032
NP_005146
NP_619731

NP_001289322
NP_001289323
NP_001289324
NP_001289325
NP_062314

Location (UCSC)Chr 6: 32.15 – 32.16 MbChr 17: 34.84 – 34.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Lysosomal thioesterase PPT2 (PPT-2), also known as S-thioesterase G14, is an enzyme that in humans is encoded by the PPT2 gene.[5][6][7]

Function

This gene encodes a member of the palmitoyl protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins.[5]

References

  1. ^ a b c ENSG00000231618, ENSG00000168452, ENSG00000228116, ENSG00000236649, ENSG00000206256, ENSG00000206329, ENSG00000221988 GRCh38: Ensembl release 89: ENSG00000227600, ENSG00000231618, ENSG00000168452, ENSG00000228116, ENSG00000236649, ENSG00000206256, ENSG00000206329, ENSG00000221988 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015474 – 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. ^ a b "Entrez Gene: palmitoyl-protein thioesterase 2".
  6. ^ Soyombo AA, Hofmann SL (October 1997). "Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity". J. Biol. Chem. 272 (43): 27456–63. doi:10.1074/jbc.272.43.27456. PMID 9341199.
  7. ^ Soyombo AA, Yi W, Hofmann SL (March 1999). "Structure of the human palmitoyl-protein thioesterase-2 gene (PPT2) in the major histocompatibility complex on chromosome 6p21.3". Genomics. 56 (2): 208–16. doi:10.1006/geno.1998.5703. PMID 10051407.

Further reading

  • Gupta P, Soyombo AA, Atashband A, et al. (2001). "Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice". Proc. Natl. Acad. Sci. U.S.A. 98 (24): 13566–71. Bibcode:2001PNAS...9813566G. doi:10.1073/pnas.251485198. PMC 61081. PMID 11717424.
  • Aguado B, Campbell RD (1999). "Characterization of a human MHC class III region gene product with S-thioesterase activity". Biochem. J. 341 ( Pt 3) (Pt 3): 679–89. doi:10.1042/bj3410679. PMC 1220406. PMID 10417332.
  • Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
  • Hancock DB, Eijgelsheim M, Wilk JB, et al. (2010). "Meta-analyses of genome-wide association studies identify multiple novel loci associated with pulmonary function". Nat. Genet. 42 (1): 45–52. doi:10.1038/ng.500. PMC 2832852. PMID 20010835.
  • Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Calero G, Gupta P, Nonato MC, et al. (2003). "The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2". J. Biol. Chem. 278 (39): 37957–64. doi:10.1074/jbc.M301225200. PMID 12855696.
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
  • Barcellos LF, May SL, Ramsay PP, et al. (2009). Roopenian DC (ed.). "High-Density SNP Screening of the Major Histocompatibility Complex in Systemic Lupus Erythematosus Demonstrates Strong Evidence for Independent Susceptibility Regions". PLOS Genet. 5 (10): e1000696. doi:10.1371/journal.pgen.1000696. PMC 2758598. PMID 19851445.
  • McKinnon E, Morahan G, Nolan D, et al. (2009). "Association of MHC SNP genotype with susceptibility to type 1 diabetes: a modified survival approach". Diabetes Obes Metab. 11 (Suppl 1): 92–100. doi:10.1111/j.1463-1326.2008.01009.x. PMC 2755510. PMID 19143821.
  • Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Xie T, Rowen L, Aguado B, et al. (2003). "Analysis of the Gene-Dense Major Histocompatibility Complex Class III Region and Its Comparison to Mouse". Genome Res. 13 (12): 2621–36. doi:10.1101/gr.1736803. PMC 403804. PMID 14656967.
  • Hartley JL, Temple GF, Brasch MA (2000). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
  • Hillman RT, Green RE, Brenner SE (2004). "An unappreciated role for RNA surveillance". Genome Biol. 5 (2): R8. doi:10.1186/gb-2004-5-2-r8. PMC 395752. PMID 14759258.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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