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Q08AH1

- ACSM1_HUMAN

UniProt

Q08AH1 - ACSM1_HUMAN

Protein

Acyl-coenzyme A synthetase ACSM1, mitochondrial

Gene

ACSM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 71 (01 Oct 2014)
      Sequence version 1 (31 Oct 2006)
      Previous versions | rss
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    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.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 – 4521ATPBy similarity
    Binding sitei467 – 4671ATPBy similarity
    Binding sitei563 – 5631ATPBy similarity

    Regions

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

    GO - Molecular functioni

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

    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

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25468.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3131MitochondrionBy similarityAdd
    BLAST
    Chaini32 – 577546Acyl-coenzyme A synthetase ACSM1, mitochondrialPRO_0000306091Add
    BLAST

    Amino acid modifications

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

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti549 – 5491K → N in BAB64535. (PubMed:11470804)Curated
    Sequence conflicti549 – 5491K → N in BAB68363. (PubMed:11470804)Curated

    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. 1 PublicationVSP_028391Add
    BLAST

    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

    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: October 1, 2014
    This is version 71 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