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Q08AH1

- ACSM1_HUMAN

UniProt

Q08AH1 - ACSM1_HUMAN

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Protein
Acyl-coenzyme A synthetase ACSM1, mitochondrial
Gene
ACSM1, BUCS1, LAE, MACS1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C4 to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro). Functions as GTP-dependent lipoate-activating enzyme that generates the substrate for lipoyltransferase By similarity.

Catalytic activityi

ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.
GTP + lipoate = diphosphate + lipoyl-GMP.

Cofactori

Magnesium By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei452 – 4521ATP By similarity
Binding sitei467 – 4671ATP By similarity
Binding sitei563 – 5631ATP By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi226 – 2349ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. GTP binding Source: UniProtKB-KW
  3. acyl-CoA ligase activity Source: UniProtKB
  4. butyrate-CoA ligase activity Source: UniProtKB
  5. fatty acid ligase activity Source: Ensembl
  6. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. benzoate metabolic process Source: UniProtKB
  2. butyrate metabolic process Source: UniProtKB
  3. cholesterol homeostasis Source: BHF-UCL
  4. energy derivation by oxidation of organic compounds Source: UniProtKB
  5. fatty acid biosynthetic process Source: Ensembl
  6. fatty acid oxidation Source: UniProtKB
  7. small molecule metabolic process Source: Reactome
  8. xenobiotic metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

ATP-binding, GTP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_6800. Conjugation of phenylacetate with glutamine.
REACT_6933. Conjugation of benzoate with glycine.

Names & Taxonomyi

Protein namesi
Recommended name:
Acyl-coenzyme A synthetase ACSM1, mitochondrial (EC:6.2.1.2)
Alternative name(s):
Acyl-CoA synthetase medium-chain family member 1
Butyrate--CoA ligase 1
Butyryl-coenzyme A synthetase 1
Lipoate-activating enzyme
Middle-chain acyl-CoA synthetase 1
Gene namesi
Name:ACSM1
Synonyms:BUCS1, LAE, MACS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:18049. ACSM1.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
  3. mitochondrial matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25468.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3131Mitochondrion By similarity
Add
BLAST
Chaini32 – 577546Acyl-coenzyme A synthetase ACSM1, mitochondrial
PRO_0000306091Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei85 – 851N6-succinyllysine By similarity
Modified residuei146 – 1461N6-acetyllysine; alternate By similarity
Modified residuei146 – 1461N6-succinyllysine; alternate By similarity
Modified residuei183 – 1831N6-succinyllysine By similarity
Modified residuei204 – 2041N6-acetyllysine; alternate By similarity
Modified residuei204 – 2041N6-succinyllysine; alternate By similarity
Modified residuei214 – 2141N6-acetyllysine By similarity
Modified residuei237 – 2371N6-succinyllysine By similarity
Modified residuei356 – 3561N6-acetyllysine; alternate By similarity
Modified residuei356 – 3561N6-succinyllysine; alternate By similarity
Modified residuei391 – 3911N6-acetyllysine; alternate By similarity
Modified residuei391 – 3911N6-succinyllysine; alternate By similarity
Modified residuei531 – 5311N6-acetyllysine By similarity
Modified residuei538 – 5381N6-acetyllysine; alternate By similarity
Modified residuei538 – 5381N6-succinyllysine; alternate By similarity
Modified residuei549 – 5491N6-acetyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ08AH1.
PRIDEiQ08AH1.

PTM databases

PhosphoSiteiQ08AH1.

Expressioni

Gene expression databases

ArrayExpressiQ08AH1.
BgeeiQ08AH1.
CleanExiHS_ACSM1.
GenevestigatoriQ08AH1.

Organism-specific databases

HPAiHPA046291.

Interactioni

Subunit structurei

Monomer By similarity.

Protein-protein interaction databases

IntActiQ08AH1. 1 interaction.
STRINGi9606.ENSP00000301956.

Structurei

3D structure databases

ProteinModelPortaliQ08AH1.
SMRiQ08AH1. Positions 44-573.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0365.
HOGENOMiHOG000229982.
HOVERGENiHBG053031.
InParanoidiQ08AH1.
KOiK01896.
OMAiCFPRDAR.
OrthoDBiEOG7D85VZ.
PhylomeDBiQ08AH1.
TreeFamiTF354287.

Family and domain databases

InterProiIPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view]
PfamiPF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view]
PROSITEiPS00455. AMP_BINDING. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q08AH1-1) [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

MQWLMRFRTL WGIHKSFHNI HPAPSQLRCR SLSEFGAPRW NDYEVPEEFN    50
FASYVLDYWA QKEKEGKRGP NPAFWWVNGQ GDEVKWSFRE MGDLTRRVAN 100
VFTQTCGLQQ GDHLALMLPR VPEWWLVAVG CMRTGIIFIP ATILLKAKDI 150
LYRLQLSKAK GIVTIDALAS EVDSIASQCP SLKTKLLVSD HSREGWLDFR 200
SLVKSASPEH TCVKSKTLDP MVIFFTSGTT GFPKMAKHSH GLALQPSFPG 250
SRKLRSLKTS DVSWCLSDSG WIVATIWTLV EPWTAGCTVF IHHLPQFDTK 300
VIIQTLLKYP INHFWGVSSI YRMILQQDFT SIRFPALEHC YTGGEVVLPK 350
DQEEWKRRTG LLLYENYGQS ETGLICATYW GMKIKPGFMG KATPPYDVQV 400
IDDKGSILPP NTEGNIGIRI KPVRPVSLFM CYEGDPEKTA KVECGDFYNT 450
GDRGKMDEEG YICFLGRSDD IINASGYRIG PAEVESALVE HPAVAESAVV 500
GSPDPIRGEV VKAFIVLTPQ FLSHDKDQLT KELQQHVKSV TAPYKYPRKV 550
EFVSELPKTI TGKIERKELR KKETGQM 577
Length:577
Mass (Da):65,273
Last modified:October 31, 2006 - v1
Checksum:i380BF4B8944B0E34
GO
Isoform 2 (identifier: Q08AH1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-577: Missing.

Show »
Length:204
Mass (Da):23,538
Checksum:i6C7EAEA423A0D790
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti272 – 2721I → M.
Corresponds to variant rs16970511 [ dbSNP | Ensembl ].
VAR_048238
Natural varianti479 – 4791I → V.
Corresponds to variant rs8056709 [ dbSNP | Ensembl ].
VAR_035245
Natural varianti515 – 5151I → T.
Corresponds to variant rs16970453 [ dbSNP | Ensembl ].
VAR_035246

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei205 – 577373Missing in isoform 2.
VSP_028391Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti549 – 5491K → N in BAB64535. 1 Publication
Sequence conflicti549 – 5491K → N in BAB68363. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB059429 mRNA. Translation: BAB64535.1.
AB062503 Genomic DNA. Translation: BAB68363.1.
BC125177 mRNA. Translation: AAI25178.1.
BC125178 mRNA. Translation: AAI25179.1.
CCDSiCCDS10587.1. [Q08AH1-1]
RefSeqiNP_443188.2. NM_052956.2. [Q08AH1-1]
XP_005255141.1. XM_005255084.1. [Q08AH1-1]
UniGeneiHs.306812.

Genome annotation databases

EnsembliENST00000307493; ENSP00000301956; ENSG00000166743. [Q08AH1-1]
ENST00000519745; ENSP00000428650; ENSG00000166743. [Q08AH1-2]
ENST00000520010; ENSP00000428047; ENSG00000166743. [Q08AH1-1]
GeneIDi116285.
KEGGihsa:116285.
UCSCiuc002dhm.1. human. [Q08AH1-1]

Polymorphism databases

DMDMi121940002.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB059429 mRNA. Translation: BAB64535.1 .
AB062503 Genomic DNA. Translation: BAB68363.1 .
BC125177 mRNA. Translation: AAI25178.1 .
BC125178 mRNA. Translation: AAI25179.1 .
CCDSi CCDS10587.1. [Q08AH1-1 ]
RefSeqi NP_443188.2. NM_052956.2. [Q08AH1-1 ]
XP_005255141.1. XM_005255084.1. [Q08AH1-1 ]
UniGenei Hs.306812.

3D structure databases

ProteinModelPortali Q08AH1.
SMRi Q08AH1. Positions 44-573.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi Q08AH1. 1 interaction.
STRINGi 9606.ENSP00000301956.

PTM databases

PhosphoSitei Q08AH1.

Polymorphism databases

DMDMi 121940002.

Proteomic databases

PaxDbi Q08AH1.
PRIDEi Q08AH1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000307493 ; ENSP00000301956 ; ENSG00000166743 . [Q08AH1-1 ]
ENST00000519745 ; ENSP00000428650 ; ENSG00000166743 . [Q08AH1-2 ]
ENST00000520010 ; ENSP00000428047 ; ENSG00000166743 . [Q08AH1-1 ]
GeneIDi 116285.
KEGGi hsa:116285.
UCSCi uc002dhm.1. human. [Q08AH1-1 ]

Organism-specific databases

CTDi 116285.
GeneCardsi GC16M020634.
H-InvDB HIX0012861.
HIX0022577.
HGNCi HGNC:18049. ACSM1.
HPAi HPA046291.
MIMi 614357. gene.
neXtProti NX_Q08AH1.
PharmGKBi PA25468.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0365.
HOGENOMi HOG000229982.
HOVERGENi HBG053031.
InParanoidi Q08AH1.
KOi K01896.
OMAi CFPRDAR.
OrthoDBi EOG7D85VZ.
PhylomeDBi Q08AH1.
TreeFami TF354287.

Enzyme and pathway databases

Reactomei REACT_6800. Conjugation of phenylacetate with glutamine.
REACT_6933. Conjugation of benzoate with glycine.

Miscellaneous databases

GenomeRNAii 116285.
NextBioi 79860.
PROi Q08AH1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q08AH1.
Bgeei Q08AH1.
CleanExi HS_ACSM1.
Genevestigatori Q08AH1.

Family and domain databases

InterProi IPR025110. AMP-bd_C.
IPR020845. AMP-binding_CS.
IPR000873. AMP-dep_Synth/Lig.
[Graphical view ]
Pfami PF00501. AMP-binding. 1 hit.
PF13193. AMP-binding_C. 1 hit.
[Graphical view ]
PROSITEi PS00455. AMP_BINDING. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product."
    Fujino T., Takei Y.A., Sone H., Ioka R.X., Kamataki A., Magoori K., Takahashi S., Sakai J., Yamamoto T.T.
    J. Biol. Chem. 276:35961-35966(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
  2. "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 AND 2).

Entry informationi

Entry nameiACSM1_HUMAN
AccessioniPrimary (citable) accession number: Q08AH1
Secondary accession number(s): Q08AH2, Q96A20
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 31, 2006
Last modified: September 3, 2014
This is version 70 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 16
    Human chromosome 16: 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

Similar proteinsi