Acetoacetyl-CoA synthetase - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Acetoacetyl-CoA synthetase
    EC=6.2.1.16
Alternative name(s):
    Acyl-CoA synthetase family member 1
    Protein sur-5 homolog

Gene names

Name:	AACS
Synonyms:	ACSF1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Hide | Top

Protein attributes

Sequence length	672 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

Hide | Top

General annotation (Comments)

Function	Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development By similarity.
Catalytic activity	ATP + acetoacetate + CoA = AMP + diphosphate + acetoacetyl-CoA.
Subcellular location	Cytoplasm › cytosol By similarity.
Tissue specificity	Highly expressed in kidney, heart and brain, but low in liver. Ref.1
Sequence similarities	Belongs to the ATP-dependent AMP-binding enzyme family.
Sequence caution	The sequence AAH41000.1 differs from that shown. Reason: Frameshift at position 201. The sequence BAB14793.1 differs from that shown. Reason: Frameshift at position 519.

Hide | Top

Ontologies

Keywords
Biological process	Fatty acid metabolism Lipid metabolism
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Ligase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	fatty acid metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW acetoacetate-CoA ligase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Hide | Top

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86V21-1) 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: Q86V21-2) The sequence of this isoform differs from the canonical sequence as follows: 561-672: ESFEEVEDSL...YRDIPELQGF → YAQRQESGSC...RDPGSVPGHP
Note: No experimental confirmation available.

Isoform 3 (identifier: Q86V21-3) The sequence of this isoform differs from the canonical sequence as follows: 1-402: Missing.
Note: No experimental confirmation available.

Hide | Top

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 672

672

Acetoacetyl-CoA synthetase

PRO_0000315784

Amino acid modifications

Modified residue

524

1

Phosphotyrosine By similarity

Natural variations

Alternative sequence

1 – 402

402

Missing in isoform 3.

VSP_030701

Alternative sequence

561 – 672

112

ESFEE…ELQGF → YAQRQESGSCRQTDHRWKSR GARRCFLEPRDPGSVPGHP in isoform 2.

VSP_030702

Natural variant

118

1

I → V: dbSNP rs12831803. Ref.4

VAR_038303

Experimental info

Sequence conflict

70

1

G → E in BAB14793. Ref.2

Sequence conflict

119

1

A → V in BAB14040. Ref.2

Sequence conflict

128

1

K → E in BAB14793. Ref.2

Sequence conflict

137

1

E → G in BAB14040. Ref.2

Sequence conflict

150

1

V → A in BAB14040. Ref.2

Sequence conflict

391

1

K → E in AAH41000. Ref.4

Hide | Top

Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified June 1, 2003. Version 1. Checksum: 36006739EE4857D9 Show »	FASTA	672	75,144
10 20 30 40 50 60 MSKEERPGRE EILECQVMWE PDSKKNTQMD RFRAAVGAAC GLALESYDDL YHWSVESYSD 70 80 90 100 110 120 FWAEFWKFSG IVFSRVYDEV VDTSKGIADV PEWFKGSRLN YAENLLRHKE NDRVALYIAR 130 140 150 160 170 180 EGKEEIVKVT FEELRQEVAL FAAAMRKMGV KKGDRVVGYL PNSEHAVEAM LAAASIGAIW 190 200 210 220 230 240 SSTSPDFGVN GVLDRFSQIQ PKLIFSVEAV VYNGKEHNHM EKLQQVVKGL PDLKKVVVIP 250 260 270 280 290 300 YVSSRENIDL SKIPNSVFLD DFLATGTSEQ APQLEFEQLP FSHPLFIMFS SGTTGAPKCM 310 320 330 340 350 360 VHSAGGTLIQ HLKEHLLHGN MTSSDILLCY TTVGWMMWNW MVSLLATGAA MVLYDGSPLV 370 380 390 400 410 420 PTPNVLWDLV DRIGITVLVT GAKWLSVLEE KAMKPVETHS LQMLHTILST GSPLKAQSYE 430 440 450 460 470 480 YVYRCIKSSI LLGSISGGTD IISCFMGHNF SLPVYKGEIQ ARNLGMAVEA WNEEGKAVWG 490 500 510 520 530 540 ESGELVCTKP IPCQPTHFWN DENGNKYRKA YFSKFPGIWA HGDYCRINPK TGGIVMLGRS 550 560 570 580 590 600 DGTLNPNGVR FGSSEIYNIV ESFEEVEDSL CVPQYNKYRE ERVILFLKMA SGHAFQPDLV 610 620 630 640 650 660 KRIRDAIRMG LSARHVPSLI LETKGIPYTL NGKKVEVAVK QIIAGKAVEQ GGAFSNPETL 670 DLYRDIPELQ GF « Hide
Isoform 2. Checksum: 1C454CA0635CB5C5 Show »	FASTA	599	67,035
10 20 30 40 50 60 MSKEERPGRE EILECQVMWE PDSKKNTQMD RFRAAVGAAC GLALESYDDL YHWSVESYSD 70 80 90 100 110 120 FWAEFWKFSG IVFSRVYDEV VDTSKGIADV PEWFKGSRLN YAENLLRHKE NDRVALYIAR 130 140 150 160 170 180 EGKEEIVKVT FEELRQEVAL FAAAMRKMGV KKGDRVVGYL PNSEHAVEAM LAAASIGAIW 190 200 210 220 230 240 SSTSPDFGVN GVLDRFSQIQ PKLIFSVEAV VYNGKEHNHM EKLQQVVKGL PDLKKVVVIP 250 260 270 280 290 300 YVSSRENIDL SKIPNSVFLD DFLATGTSEQ APQLEFEQLP FSHPLFIMFS SGTTGAPKCM 310 320 330 340 350 360 VHSAGGTLIQ HLKEHLLHGN MTSSDILLCY TTVGWMMWNW MVSLLATGAA MVLYDGSPLV 370 380 390 400 410 420 PTPNVLWDLV DRIGITVLVT GAKWLSVLEE KAMKPVETHS LQMLHTILST GSPLKAQSYE 430 440 450 460 470 480 YVYRCIKSSI LLGSISGGTD IISCFMGHNF SLPVYKGEIQ ARNLGMAVEA WNEEGKAVWG 490 500 510 520 530 540 ESGELVCTKP IPCQPTHFWN DENGNKYRKA YFSKFPGIWA HGDYCRINPK TGGIVMLGRS 550 560 570 580 590 DGTLNPNGVR FGSSEIYNIV YAQRQESGSC RQTDHRWKSR GARRCFLEPR DPGSVPGHP « Hide
Isoform 3. Checksum: 930E1C6E82B5061D Show »	FASTA	270	30,061
10 20 30 40 50 60 MLHTILSTGS PLKAQSYEYV YRCIKSSILL GSISGGTDII SCFMGHNFSL PVYKGEIQAR 70 80 90 100 110 120 NLGMAVEAWN EEGKAVWGES GELVCTKPIP CQPTHFWNDE NGNKYRKAYF SKFPGIWAHG 130 140 150 160 170 180 DYCRINPKTG GIVMLGRSDG TLNPNGVRFG SSEIYNIVES FEEVEDSLCV PQYNKYREER 190 200 210 220 230 240 VILFLKMASG HAFQPDLVKR IRDAIRMGLS ARHVPSLILE TKGIPYTLNG KKVEVAVKQI 250 260 270 IAGKAVEQGG AFSNPETLDL YRDIPELQGF « Hide

Hide | Top

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Expression of acetoacetyl-CoA synthetase, a novel cytosolic ketone body-utilizing enzyme, in human brain." Ohgami M., Takahashi N., Yamasaki M., Fukui T. Biochem. Pharmacol. 65:989-994(2003) [PubMed: 12623130] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Mammary gland and Retinoblastoma.
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT VAL-118. Tissue: Brain, Kidney and Testis.
[5]	"Caenorhabditis elegans SUR-5, a novel but conserved protein, negatively regulates LET-60 Ras activity during vulval induction." Gu T., Orita S., Han M. Mol. Cell. Biol. 18:4556-4564(1998) [PubMed: 9671465] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 12-672 (ISOFORM 1).
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-672 (ISOFORM 1). Tissue: Stomach.
[7]	"Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome." Watkins P.A., Maiguel D., Jia Z., Pevsner J. J. Lipid Res. 48:2736-2750(2007) [PubMed: 17762044] [Abstract] Cited for: IDENTIFICATION.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Hide | Top

Cross-references

Sequence databases
	AB054121 mRNA. Translation: BAD22560.1. AK022451 mRNA. Translation: BAB14040.1. AK024036 mRNA. Translation: BAB14793.1. Frameshift. CH471054 Genomic DNA. Translation: EAW98474.1. BC004997 mRNA. Translation: AAH04997.1. BC040490 mRNA. Translation: AAH40490.2. BC040574 mRNA. Translation: AAH40574.1. BC041000 mRNA. Translation: AAH41000.1. Frameshift. BC051862 mRNA. Translation: AAH51862.1. AY091468 mRNA. Translation: AAM44124.1. AL833047 mRNA. Translation: CAH56309.1.
IPI	IPI00217272. IPI00646775. IPI00789348.
RefSeq	NP_076417.2.
UniGene	Hs.656073
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q86V21.
Proteomic databases
PRIDE	Q86V21.
Genome annotation databases
Ensembl	ENSG00000081760. Homo sapiens. [Contig view]
GeneID	65985.
KEGG	hsa:65985.
NMPDR	fig\|9606.3.peg.8499.
UCSC	uc001uhc.1. human. uc001uhd.1. human.
Organism-specific databases
GeneCards	GC12P124074.
HGNC	HGNC:21298. AACS.
PharmGKB	PA134940696.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q86V21.
OMA	Q86V21. WAHGDYA.
Enzyme and pathway databases
BRENDA	6.2.1.16. 247.
Gene expression databases
ArrayExpress	Q86V21.
Bgee	Q86V21.
CleanEx	HS_AACS.
Family and domain databases
InterPro	IPR005914. Acac_CoA_synth. IPR000873. AMP-dep_Synth/Lig. [Graphical view]
Pfam	PF00501. AMP-binding. 1 hit. [Graphical view]
TIGRFAMs	TIGR01217. ac_ac_CoA_syn. 1 hit.
PROSITE	PS00455. AMP_BINDING. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	67451.

Hide | Top

Entry information

Entry name

AACS_HUMAN

Accession

Primary (citable) accession number: Q86V21
Secondary accession number(s): Q49AB9

Q9HA19

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 15, 2008
Last sequence update:	June 1, 2003
Last modified:	July 7, 2009
This is version 59 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Hide | Top

Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents