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Q6NUN0

- ACSM5_HUMAN

UniProt

Q6NUN0 - ACSM5_HUMAN

Protein

Acyl-coenzyme A synthetase ACSM5, mitochondrial

Gene

ACSM5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 2 (24 Nov 2009)
      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) By similarity.By similarity

    Catalytic activityi

    ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

    Cofactori

    Magnesium or manganese.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei455 – 4551ATPBy similarity
    Binding sitei470 – 4701ATPBy similarity
    Binding sitei566 – 5661ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi230 – 2389ATPBy similarity
    Nucleotide bindingi368 – 3736ATPBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. butyrate-CoA ligase activity Source: UniProtKB-EC
    3. GTP binding Source: UniProtKB-KW
    4. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. fatty acid metabolic process Source: UniProtKB-KW

    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_6812. Conjugation of salicylate with glycine.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acyl-coenzyme A synthetase ACSM5, mitochondrial (EC:6.2.1.2)
    Alternative name(s):
    Acyl-CoA synthetase medium-chain family member 5
    Gene namesi
    Name:ACSM5
    Synonyms:MACS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:26060. ACSM5.

    Subcellular locationi

    Mitochondrion matrix By similarity

    GO - Cellular componenti

    1. mitochondrial matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162375501.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 2626MitochondrionSequence AnalysisAdd
    BLAST
    Chaini27 – 579553Acyl-coenzyme A synthetase ACSM5, mitochondrialPRO_0000306101Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei97 – 971N6-acetyllysine; alternateBy similarity
    Modified residuei97 – 971N6-succinyllysine; alternateBy similarity
    Modified residuei152 – 1521N6-acetyllysineBy similarity
    Modified residuei303 – 3031N6-acetyllysine; alternateBy similarity
    Modified residuei303 – 3031N6-succinyllysine; alternateBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    PaxDbiQ6NUN0.
    PRIDEiQ6NUN0.

    PTM databases

    PhosphoSiteiQ6NUN0.

    Expressioni

    Tissue specificityi

    Detected in kidney and liver.1 Publication

    Gene expression databases

    ArrayExpressiQ6NUN0.
    BgeeiQ6NUN0.
    CleanExiHS_ACSM5.
    GenevestigatoriQ6NUN0.

    Organism-specific databases

    HPAiHPA041435.

    Interactioni

    Protein-protein interaction databases

    BioGridi120323. 1 interaction.
    IntActiQ6NUN0. 1 interaction.
    STRINGi9606.ENSP00000327916.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6NUN0.
    SMRiQ6NUN0. Positions 11-577.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0365.
    HOGENOMiHOG000229982.
    HOVERGENiHBG053031.
    InParanoidiQ6NUN0.
    KOiK01896.
    OMAiLTRYQFQ.
    OrthoDBiEOG7D85VZ.
    PhylomeDBiQ6NUN0.
    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: Q6NUN0-1) [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

    MRPWLRHLVL QALRNSRAFC GSHGKPAPLP VPQKIVATWE AISLGRQLVP    50
    EYFNFAHDVL DVWSRLEEAG HRPPNPAFWW VNGTGAEIKW SFEELGKQSR 100
    KAANVLGGAC GLQPGDRMML VLPRLPEWWL VSVACMRTGT VMIPGVTQLT 150
    EKDLKYRLQA SRAKSIITSD SLAPRVDAIS AECPSLQTKL LVSDSSRPGW 200
    LNFRELLREA STEHNCMRTK SRDPLAIYFT SGTTGAPKMV EHSQSSYGLG 250
    FVASGRRWVA LTESDIFWNT TDTGWVKAAW TLFSAWPNGS CIFVHELPRV 300
    DAKVILNTLS KFPITTLCCV PTIFRLLVQE DLTRYQFQSL RHCLTGGEAL 350
    NPDVREKWKH QTGVELYEGY GQSETVVICA NPKGMKIKSG SMGKASPPYD 400
    VQIVDDEGNV LPPGEEGNVA VRIRPTRPFC FFNCYLDNPE KTAASEQGDF 450
    YITGDRARMD KDGYFWFMGR NDDVINSSSY RIGPVEVESA LAEHPAVLES 500
    AVVSSPDPIR GEVVKAFIVL TPAYSSHDPE ALTRELQEHV KRVTAPYKYP 550
    RKVAFVSELP KTVSGKIQRS KLRSQEWGK 579
    Length:579
    Mass (Da):64,760
    Last modified:November 24, 2009 - v2
    Checksum:i9493CB853CE29CB1
    GO
    Isoform 2 (identifier: Q6NUN0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         209-579: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:208
    Mass (Da):23,320
    Checksum:i5C29746BE07D3E30
    GO

    Sequence cautioni

    The sequence BAA91273.1 differs from that shown. Reason: Frameshift at position 560.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti142 – 1421M → V in AAH16703. (PubMed:15489334)Curated
    Sequence conflicti231 – 2344SGTT → KREPP in BAA91273. (PubMed:14702039)Curated
    Sequence conflicti502 – 5021V → A in AAH68516. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti65 – 651R → Q.
    Corresponds to variant rs9928053 [ dbSNP | Ensembl ].
    VAR_055495
    Natural varianti159 – 1591Q → H.1 Publication
    VAR_035252
    Natural varianti182 – 1821E → K.
    Corresponds to variant rs7192210 [ dbSNP | Ensembl ].
    VAR_055496
    Natural varianti217 – 2171M → V.
    Corresponds to variant rs59025904 [ dbSNP | Ensembl ].
    VAR_061011
    Natural varianti352 – 3521P → R.1 Publication
    Corresponds to variant rs8062344 [ dbSNP | Ensembl ].
    VAR_035253
    Natural varianti360 – 3601H → R.1 Publication
    Corresponds to variant rs12931877 [ dbSNP | Ensembl ].
    VAR_035254
    Natural varianti533 – 5331T → M.1 Publication
    Corresponds to variant rs56308819 [ dbSNP | Ensembl ].
    VAR_035255

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei209 – 579371Missing in isoform 2. 1 PublicationVSP_028398Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000588 mRNA. Translation: BAA91273.1. Frameshift.
    AC137056 Genomic DNA. No translation available.
    BC013753 mRNA. Translation: AAH13753.1.
    BC016703 mRNA. Translation: AAH16703.1.
    BC068516 mRNA. Translation: AAH68516.1.
    CCDSiCCDS10585.1. [Q6NUN0-1]
    RefSeqiNP_060358.2. NM_017888.2. [Q6NUN0-1]
    UniGeneiHs.659606.

    Genome annotation databases

    EnsembliENST00000331849; ENSP00000327916; ENSG00000183549. [Q6NUN0-1]
    ENST00000575584; ENSP00000460112; ENSG00000183549. [Q6NUN0-2]
    GeneIDi54988.
    KEGGihsa:54988.
    UCSCiuc002dhd.1. human. [Q6NUN0-2]
    uc002dhe.3. human. [Q6NUN0-1]

    Polymorphism databases

    DMDMi269849538.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK000588 mRNA. Translation: BAA91273.1 . Frameshift.
    AC137056 Genomic DNA. No translation available.
    BC013753 mRNA. Translation: AAH13753.1 .
    BC016703 mRNA. Translation: AAH16703.1 .
    BC068516 mRNA. Translation: AAH68516.1 .
    CCDSi CCDS10585.1. [Q6NUN0-1 ]
    RefSeqi NP_060358.2. NM_017888.2. [Q6NUN0-1 ]
    UniGenei Hs.659606.

    3D structure databases

    ProteinModelPortali Q6NUN0.
    SMRi Q6NUN0. Positions 11-577.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120323. 1 interaction.
    IntActi Q6NUN0. 1 interaction.
    STRINGi 9606.ENSP00000327916.

    PTM databases

    PhosphoSitei Q6NUN0.

    Polymorphism databases

    DMDMi 269849538.

    Proteomic databases

    PaxDbi Q6NUN0.
    PRIDEi Q6NUN0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000331849 ; ENSP00000327916 ; ENSG00000183549 . [Q6NUN0-1 ]
    ENST00000575584 ; ENSP00000460112 ; ENSG00000183549 . [Q6NUN0-2 ]
    GeneIDi 54988.
    KEGGi hsa:54988.
    UCSCi uc002dhd.1. human. [Q6NUN0-2 ]
    uc002dhe.3. human. [Q6NUN0-1 ]

    Organism-specific databases

    CTDi 54988.
    GeneCardsi GC16P020420.
    H-InvDB HIX0023110.
    HGNCi HGNC:26060. ACSM5.
    HPAi HPA041435.
    MIMi 614361. gene.
    neXtProti NX_Q6NUN0.
    PharmGKBi PA162375501.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0365.
    HOGENOMi HOG000229982.
    HOVERGENi HBG053031.
    InParanoidi Q6NUN0.
    KOi K01896.
    OMAi LTRYQFQ.
    OrthoDBi EOG7D85VZ.
    PhylomeDBi Q6NUN0.
    TreeFami TF354287.

    Enzyme and pathway databases

    Reactomei REACT_6812. Conjugation of salicylate with glycine.

    Miscellaneous databases

    GenomeRNAii 54988.
    NextBioi 58283.
    PROi Q6NUN0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6NUN0.
    Bgeei Q6NUN0.
    CleanExi HS_ACSM5.
    Genevestigatori Q6NUN0.

    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. "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).
    2. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
      Tissue: Brain and Kidney.
    4. "An acyl-CoA synthetase gene family in chromosome 16p12 may contribute to multiple risk factors."
      Iwai N., Mannami T., Tomoike H., Ono K., Iwanaga Y.
      Hypertension 41:1041-1046(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HIS-159; ARG-352; ARG-360 AND MET-533, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiACSM5_HUMAN
    AccessioniPrimary (citable) accession number: Q6NUN0
    Secondary accession number(s): Q96AV1, Q96CX8, Q9NWV3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: November 24, 2009
    Last modified: October 1, 2014
    This is version 89 of the entry and version 2 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