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ACAA2 - Wikipedia

From Wikipedia, the free encyclopedia

ACAA2

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
4C2J, 4C2K

Identifiers

Aliases

ACAA2, DSAEC, acetyl-CoA acyltransferase 2

External IDs

OMIM: 604770; MGI: 1098623; HomoloGene: 4456; GeneCards: ACAA2; OMA:ACAA2 - orthologs

Gene location (Human)

Chr.	Chromosome 18 (human)^[1]

Band	18q21.1	Start	49,782,164 bp^[1]
Band	18q21.1	End	49,813,953 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 18 (mouse)^[2]

Band	18 E2\|18 50.76 cM	Start	74,912,268 bp^[2]
Band	18 E2\|18 50.76 cM	End	74,939,279 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right lobe of liver

mucosa of transverse colon

apex of heart

rectum

left ventricle

right auricle

muscle of thigh

gastric mucosa

islet of Langerhans

ventricular zone

Top expressed in

gallbladder

cardiac muscle tissue of left ventricle

Ileal epithelium

interventricular septum

right ventricle

choroid plexus of fourth ventricle

left lobe of liver

extraocular muscle

superior surface of tongue

corneal stroma

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	transferase activity acyltransferase activity protein binding catalytic activity acyltransferase activity, transferring groups other than amino-acyl groups acetyl-CoA C-acyltransferase activity RNA binding acetyl-CoA C-acetyltransferase activity
Cellular component	mitochondrial inner membrane extracellular exosome mitochondrion mitochondrial matrix
Biological process	negative regulation of mitochondrial membrane permeability involved in apoptotic process negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway cholesterol biosynthetic process metabolism cellular response to hypoxia fatty acid metabolic process lipid metabolism fatty acid beta-oxidation
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


10449


52538

Ensembl


ENSG00000167315


ENSMUSG00000036880

UniProt


P42765


Q8BWT1

RefSeq (mRNA)


NM_006111


NM_177470

RefSeq (protein)


NP_006102


NP_803421

Location (UCSC)

Chr 18: 49.78 – 49.81 Mb

Chr 18: 74.91 – 74.94 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

3-Ketoacyl-CoA thiolase, mitochondrial also known as acetyl-Coenzyme A acyltransferase 2 is an enzyme that in humans is encoded by the ACAA2 gene.^[5]^[6]

Acetyl-Coenzyme A acyltransferase 2 is an acetyl-CoA C-acyltransferase enzyme.

Structure

The ACAA2 gene encodes a 41.9 kDa protein that is composed of 397 amino acids and contains 88 observed peptides.^[7]^[8]

Function

The encoded protein catalyzes the last step of the mitochondrial fatty acid beta oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal.^[5] ACAA2 has been shown to be a functional BNIP3 binding partner, which provides a possible link between fatty acid metabolism and cell apoptosis.^[9]

Clinical significance

To date, mutations or variants have not been identified in any clinical diseases. However, the ACAA2 locus has been associated with abnormal blood lipid levels, particularly HDL and LDL cholesterol levels;^[10] in addition, this locus has also been correlated with an individual's risk for coronary artery disease.^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167315 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036880 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: acetyl-Coenzyme A acyltransferase 2".
^ Abe H, Ohtake A, Yamamoto S, Satoh Y, Takayanagi M, Amaya Y, Takiguchi M, Sakuraba H, Suzuki Y, Mori M (Nov 1993). "Cloning and sequence analysis of a full length cDNA encoding human mitochondrial 3-oxoacyl-CoA thiolase". Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. 1216 (2): 304–6. doi:10.1016/0167-4781(93)90160-f. PMID 8241273.
^ ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
^ "3-ketoacyl-CoA thiolase, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2015-09-24. Retrieved 2015-03-23.
^ Cao W, Liu N, Tang S, Bao L, Shen L, Yuan H, Zhao X, Lu H (Jun 2008). "Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines". Biochimica et Biophysica Acta (BBA) - General Subjects. 1780 (6): 873–80. doi:10.1016/j.bbagen.2008.02.007. PMID 18371312.
^ Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M (Feb 2008). "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans". Nature Genetics. 40 (2): 189–97. doi:10.1038/ng.75. PMC 2682493. PMID 18193044.
^ Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR (Feb 2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics. 40 (2): 161–9. doi:10.1038/ng.76. PMC 5206900. PMID 18193043.

External links

Human ACAA2 genome location and ACAA2 gene details page in the UCSC Genome Browser.

Aboulaich N, Vainonen JP, Strålfors P, Vener AV (Oct 2004). "Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes". The Biochemical Journal. 383 (Pt 2): 237–48. doi:10.1042/BJ20040647. PMC 1134064. PMID 15242332.
Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M (Feb 2008). "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans". Nature Genetics. 40 (2): 189–97. doi:10.1038/ng.75. PMC 2682493. PMID 18193044.
Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, Clarke R, Heath SC, Timpson NJ, Najjar SS, Stringham HM, Strait J, Duren WL, Maschio A, Busonero F, Mulas A, Albai G, Swift AJ, Morken MA, Narisu N, Bennett D, Parish S, Shen H, Galan P, Meneton P, Hercberg S, Zelenika D, Chen WM, Li Y, Scott LJ, Scheet PA, Sundvall J, Watanabe RM, Nagaraja R, Ebrahim S, Lawlor DA, Ben-Shlomo Y, Davey-Smith G, Shuldiner AR, Collins R, Bergman RN, Uda M, Tuomilehto J, Cao A, Collins FS, Lakatta E, Lathrop GM, Boehnke M, Schlessinger D, Mohlke KL, Abecasis GR (Feb 2008). "Newly identified loci that influence lipid concentrations and risk of coronary artery disease". Nature Genetics. 40 (2): 161–9. doi:10.1038/ng.76. PMC 5206900. PMID 18193043.
Seedorf U, Ellinghaus P, Roch Nofer J (Jun 2000). "Sterol carrier protein-2". Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids. 1486 (1): 45–54. doi:10.1016/s1388-1981(00)00047-0. PMID 10856712.
Cao W, Liu N, Tang S, Bao L, Shen L, Yuan H, Zhao X, Lu H (Jun 2008). "Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines". Biochimica et Biophysica Acta (BBA) - General Subjects. 1780 (6): 873–80. doi:10.1016/j.bbagen.2008.02.007. PMID 18371312.
Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.

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

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

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