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Q86V21

- AACS_HUMAN

UniProt

Q86V21 - AACS_HUMAN

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Protein

Acetoacetyl-CoA synthetase

Gene
AACS, ACSF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Activates acetoacetate to acetoacetyl-CoA. May be involved in utilizing ketone body for the fatty acid-synthesis during adipose tissue development By similarity.

Catalytic activityi

ATP + acetoacetate + CoA = AMP + diphosphate + acetoacetyl-CoA.

GO - Molecular functioni

  1. acetoacetate-CoA ligase activity Source: UniProtKB-EC
  2. ATP binding Source: UniProtKB-KW
  3. butyrate-CoA ligase activity Source: Ensembl

GO - Biological processi

  1. adipose tissue development Source: Ensembl
  2. cellular response to cholesterol Source: Ensembl
  3. cellular response to glucose stimulus Source: Ensembl
  4. cellular response to testosterone stimulus Source: Ensembl
  5. fatty acid metabolic process Source: UniProtKB-KW
  6. liver development Source: Ensembl
  7. positive regulation of insulin secretion Source: Ensembl
  8. response to drug Source: Ensembl
  9. response to ethanol Source: Ensembl
  10. response to nutrient Source: Ensembl
  11. response to oleic acid Source: Ensembl
  12. response to purine-containing compound Source: Ensembl
  13. response to starvation Source: Ensembl
  14. white fat cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.2.1.16. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Acetoacetyl-CoA synthetase (EC:6.2.1.16)
Alternative name(s):
Acyl-CoA synthetase family member 1
Protein sur-5 homolog
Gene namesi
Name:AACS
Synonyms:ACSF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:21298. AACS.

Subcellular locationi

Cytoplasmcytosol By similarity

GO - Cellular componenti

  1. cytosol Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134940696.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 672672Acetoacetyl-CoA synthetasePRO_0000315784Add
BLAST

Proteomic databases

MaxQBiQ86V21.
PaxDbiQ86V21.
PRIDEiQ86V21.

PTM databases

PhosphoSiteiQ86V21.

Expressioni

Tissue specificityi

Highly expressed in kidney, heart and brain, but low in liver.1 Publication

Gene expression databases

ArrayExpressiQ86V21.
BgeeiQ86V21.
CleanExiHS_AACS.
GenevestigatoriQ86V21.

Organism-specific databases

HPAiHPA039811.

Interactioni

Protein-protein interaction databases

BioGridi122434. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ86V21.
SMRiQ86V21. Positions 130-414.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0365.
HOVERGENiHBG059947.
InParanoidiQ86V21.
KOiK01907.
OMAiYVYRCIK.
OrthoDBiEOG738043.
PhylomeDBiQ86V21.
TreeFamiTF354241.

Family and domain databases

InterProiIPR005914. Acac_CoA_synth.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01217. ac_ac_CoA_syn. 1 hit.
PROSITEiPS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86V21-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSKEERPGRE EILECQVMWE PDSKKNTQMD RFRAAVGAAC GLALESYDDL    50
YHWSVESYSD FWAEFWKFSG IVFSRVYDEV VDTSKGIADV PEWFKGSRLN 100
YAENLLRHKE NDRVALYIAR EGKEEIVKVT FEELRQEVAL FAAAMRKMGV 150
KKGDRVVGYL PNSEHAVEAM LAAASIGAIW SSTSPDFGVN GVLDRFSQIQ 200
PKLIFSVEAV VYNGKEHNHM EKLQQVVKGL PDLKKVVVIP YVSSRENIDL 250
SKIPNSVFLD DFLATGTSEQ APQLEFEQLP FSHPLFIMFS SGTTGAPKCM 300
VHSAGGTLIQ HLKEHLLHGN MTSSDILLCY TTVGWMMWNW MVSLLATGAA 350
MVLYDGSPLV PTPNVLWDLV DRIGITVLVT GAKWLSVLEE KAMKPVETHS 400
LQMLHTILST GSPLKAQSYE YVYRCIKSSI LLGSISGGTD IISCFMGHNF 450
SLPVYKGEIQ ARNLGMAVEA WNEEGKAVWG ESGELVCTKP IPCQPTHFWN 500
DENGNKYRKA YFSKFPGIWA HGDYCRINPK TGGIVMLGRS DGTLNPNGVR 550
FGSSEIYNIV ESFEEVEDSL CVPQYNKYRE ERVILFLKMA SGHAFQPDLV 600
KRIRDAIRMG LSARHVPSLI LETKGIPYTL NGKKVEVAVK QIIAGKAVEQ 650
GGAFSNPETL DLYRDIPELQ GF 672
Length:672
Mass (Da):75,144
Last modified:June 1, 2003 - v1
Checksum:i36006739EE4857D9
GO
Isoform 2 (identifier: Q86V21-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     561-672: ESFEEVEDSL...YRDIPELQGF → YAQRQESGSC...RDPGSVPGHP

Note: No experimental confirmation available.

Show »
Length:599
Mass (Da):67,035
Checksum:i1C454CA0635CB5C5
GO
Isoform 3 (identifier: Q86V21-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-402: Missing.

Note: No experimental confirmation available.

Show »
Length:270
Mass (Da):30,061
Checksum:i930E1C6E82B5061D
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti118 – 1181I → V.1 Publication
Corresponds to variant rs12831803 [ dbSNP | Ensembl ].
VAR_038303
Natural varianti470 – 4701A → V.
Corresponds to variant rs59883951 [ dbSNP | Ensembl ].
VAR_060997

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 402402Missing in isoform 3. VSP_030701Add
BLAST
Alternative sequencei561 – 672112ESFEE…ELQGF → YAQRQESGSCRQTDHRWKSR GARRCFLEPRDPGSVPGHP in isoform 2. VSP_030702Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701G → E in BAB14793. 1 Publication
Sequence conflicti119 – 1191A → V in BAB14040. 1 Publication
Sequence conflicti128 – 1281K → E in BAB14793. 1 Publication
Sequence conflicti137 – 1371E → G in BAB14040. 1 Publication
Sequence conflicti150 – 1501V → A in BAB14040. 1 Publication
Sequence conflicti391 – 3911K → E in AAH41000. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9263.1. [Q86V21-1]
RefSeqiNP_076417.2. NM_023928.3. [Q86V21-1]
XP_005253667.1. XM_005253610.1. [Q86V21-2]
UniGeneiHs.656073.

Genome annotation databases

EnsembliENST00000261686; ENSP00000261686; ENSG00000081760. [Q86V21-2]
ENST00000316519; ENSP00000324842; ENSG00000081760. [Q86V21-1]
ENST00000316543; ENSP00000324929; ENSG00000081760. [Q86V21-3]
GeneIDi65985.
KEGGihsa:65985.
UCSCiuc001uhc.3. human. [Q86V21-1]
uc001uhd.3. human. [Q86V21-2]
uc009zyi.3. human. [Q86V21-3]

Polymorphism databases

DMDMi74750446.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9263.1. [Q86V21-1 ]
RefSeqi NP_076417.2. NM_023928.3. [Q86V21-1 ]
XP_005253667.1. XM_005253610.1. [Q86V21-2 ]
UniGenei Hs.656073.

3D structure databases

ProteinModelPortali Q86V21.
SMRi Q86V21. Positions 130-414.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122434. 1 interaction.

PTM databases

PhosphoSitei Q86V21.

Polymorphism databases

DMDMi 74750446.

Proteomic databases

MaxQBi Q86V21.
PaxDbi Q86V21.
PRIDEi Q86V21.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261686 ; ENSP00000261686 ; ENSG00000081760 . [Q86V21-2 ]
ENST00000316519 ; ENSP00000324842 ; ENSG00000081760 . [Q86V21-1 ]
ENST00000316543 ; ENSP00000324929 ; ENSG00000081760 . [Q86V21-3 ]
GeneIDi 65985.
KEGGi hsa:65985.
UCSCi uc001uhc.3. human. [Q86V21-1 ]
uc001uhd.3. human. [Q86V21-2 ]
uc009zyi.3. human. [Q86V21-3 ]

Organism-specific databases

CTDi 65985.
GeneCardsi GC12P125549.
H-InvDB HIX0022598.
HGNCi HGNC:21298. AACS.
HPAi HPA039811.
MIMi 614364. gene.
neXtProti NX_Q86V21.
PharmGKBi PA134940696.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0365.
HOVERGENi HBG059947.
InParanoidi Q86V21.
KOi K01907.
OMAi YVYRCIK.
OrthoDBi EOG738043.
PhylomeDBi Q86V21.
TreeFami TF354241.

Enzyme and pathway databases

BRENDAi 6.2.1.16. 2681.

Miscellaneous databases

ChiTaRSi AACS. human.
GenomeRNAii 65985.
NextBioi 67451.
PROi Q86V21.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86V21.
Bgeei Q86V21.
CleanExi HS_AACS.
Genevestigatori Q86V21.

Family and domain databases

InterProi IPR005914. Acac_CoA_synth.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR01217. ac_ac_CoA_syn. 1 hit.
PROSITEi PS00455. AMP_BINDING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Mammary gland and Retinoblastoma.
  3. 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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 12-672 (ISOFORM 1).
  6. 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] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAACS_HUMAN
AccessioniPrimary (citable) accession number: Q86V21
Secondary accession number(s): Q49AB9
, Q49AC3, Q658Q8, Q8IWD2, Q8NEW5, Q9BSJ9, Q9H829, Q9HA19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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