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Q4G176

- ACSF3_HUMAN

UniProt

Q4G176 - ACSF3_HUMAN

Protein

Acyl-CoA synthetase family member 3, mitochondrial

Gene

ACSF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 81 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei457 – 4571ATPBy similarity
    Binding sitei471 – 4711ATPBy similarity
    Binding sitei563 – 5631ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi202 – 2109ATPBy similarity

    GO - Molecular functioni

    1. acid-thiol ligase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW
    3. malonyl-CoA synthetase activity Source: UniProtKB

    GO - Biological processi

    1. fatty acid biosynthetic process Source: UniProtKB
    2. fatty acid metabolic process Source: UniProtKB
    3. malonate catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Fatty acid metabolism, Lipid metabolism

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acyl-CoA synthetase family member 3, mitochondrial (EC:6.2.1.-)
    Gene namesi
    Name:ACSF3
    ORF Names:PSEC0197
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:27288. ACSF3.

    Subcellular locationi

    Mitochondrion 1 Publication

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]: A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981M → R in CMAMMA. 1 Publication
    VAR_066504
    Natural varianti243 – 2431P → L in CMAMMA. 1 Publication
    Corresponds to variant rs140986055 [ dbSNP | Ensembl ].
    VAR_066505
    Natural varianti358 – 3581T → I in CMAMMA. 1 Publication
    VAR_066506
    Natural varianti359 – 3591E → K in CMAMMA. 1 Publication
    Corresponds to variant rs150487794 [ dbSNP | Ensembl ].
    VAR_066507
    Natural varianti462 – 4621K → T in CMAMMA. 1 Publication
    VAR_066508
    Natural varianti465 – 4706Missing in CMAMMA.
    VAR_066509
    Natural varianti471 – 4711R → Q in CMAMMA. 1 Publication
    VAR_066510
    Natural varianti471 – 4711R → W in CMAMMA. 1 Publication
    Corresponds to variant rs138680796 [ dbSNP | Ensembl ].
    VAR_066511
    Natural varianti480 – 4801G → S in CMAMMA. 1 Publication
    VAR_066512
    Natural varianti558 – 5581R → W in CMAMMA. 1 Publication
    Corresponds to variant rs141090143 [ dbSNP | Ensembl ].
    VAR_066513

    Organism-specific databases

    MIMi614265. phenotype.
    Orphaneti289504. Combined malonic and methylmalonic acidemia.
    PharmGKBiPA162375375.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 8383MitochondrionSequence AnalysisAdd
    BLAST
    Chaini84 – 576493Acyl-CoA synthetase family member 3, mitochondrialPRO_0000315800Add
    BLAST

    Proteomic databases

    MaxQBiQ4G176.
    PaxDbiQ4G176.
    PRIDEiQ4G176.

    PTM databases

    PhosphoSiteiQ4G176.

    Expressioni

    Gene expression databases

    ArrayExpressiQ4G176.
    BgeeiQ4G176.
    CleanExiHS_ACSF3.
    GenevestigatoriQ4G176.

    Organism-specific databases

    HPAiHPA008322.
    HPA008323.

    Interactioni

    Protein-protein interaction databases

    BioGridi128248. 6 interactions.
    STRINGi9606.ENSP00000320646.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4G176.
    SMRiQ4G176. Positions 43-564.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0318.
    HOGENOMiHOG000229983.
    HOVERGENiHBG100430.
    InParanoidiQ4G176.
    OMAiMGKINKR.
    OrthoDBiEOG7W9RVK.
    PhylomeDBiQ4G176.
    TreeFamiTF312995.

    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]

    Sequencei

    Sequence statusi: Complete.

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

    Q4G176-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLPHVVLTFR RLGCALASCR LAPARHRGSG LLHTAPVARS DRSAPVFTRA    50
    LAFGDRIALV DQHGRHTYRE LYSRSLRLSQ EICRLCGCVG GDLREERVSF 100
    LCANDASYVV AQWASWMSGG VAVPLYRKHP AAQLEYVICD SQSSVVLASQ 150
    EYLELLSPVV RKLGVPLLPL TPAIYTGAVE EPAEVPVPEQ GWRNKGAMII 200
    YTSGTTGRPK GVLSTHQNIR AVVTGLVHKW AWTKDDVILH VLPLHHVHGV 250
    VNALLCPLWV GATCVMMPEF SPQQVWEKFL SSETPRINVF MAVPTIYTKL 300
    MEYYDRHFTQ PHAQDFLRAV CEEKIRLMVS GSAALPLPVL EKWKNITGHT 350
    LLERYGMTEI GMALSGPLTT AVRLPGSVGT PLPGVQVRIV SENPQREACS 400
    YTIHAEGDER GTKVTPGFEE KEGELLVRGP SVFREYWNKP EETKSAFTLD 450
    GWFKTGDTVV FKDGQYWIRG RTSVDIIKTG GYKVSALEVE WHLLAHPSIT 500
    DVAVIGVPDM TWGQRVTAVV TLREGHSLSH RELKEWARNV LAPYAVPSEL 550
    VLVEEIPRNQ MGKIDKKALI RHFHPS 576
    Length:576
    Mass (Da):64,130
    Last modified:May 18, 2010 - v3
    Checksum:i60F0D5020817EF70
    GO

    Sequence cautioni

    The sequence AAH72391.1 differs from that shown. Reason: Aberrant splicing.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti148 – 1481A → V in AAH28399. (PubMed:15489334)Curated
    Sequence conflicti278 – 2781K → E in BAC11654. (PubMed:16303743)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21L → P.1 Publication
    Corresponds to variant rs7188200 [ dbSNP | Ensembl ].
    VAR_038306
    Natural varianti17 – 171A → P.1 Publication
    Corresponds to variant rs11547019 [ dbSNP | Ensembl ].
    VAR_038307
    Natural varianti198 – 1981M → R in CMAMMA. 1 Publication
    VAR_066504
    Natural varianti243 – 2431P → L in CMAMMA. 1 Publication
    Corresponds to variant rs140986055 [ dbSNP | Ensembl ].
    VAR_066505
    Natural varianti358 – 3581T → I in CMAMMA. 1 Publication
    VAR_066506
    Natural varianti359 – 3591E → K in CMAMMA. 1 Publication
    Corresponds to variant rs150487794 [ dbSNP | Ensembl ].
    VAR_066507
    Natural varianti372 – 3721V → M.1 Publication
    Corresponds to variant rs3743979 [ dbSNP | Ensembl ].
    VAR_038308
    Natural varianti462 – 4621K → T in CMAMMA. 1 Publication
    VAR_066508
    Natural varianti465 – 4706Missing in CMAMMA.
    VAR_066509
    Natural varianti471 – 4711R → Q in CMAMMA. 1 Publication
    VAR_066510
    Natural varianti471 – 4711R → W in CMAMMA. 1 Publication
    Corresponds to variant rs138680796 [ dbSNP | Ensembl ].
    VAR_066511
    Natural varianti480 – 4801G → S in CMAMMA. 1 Publication
    VAR_066512
    Natural varianti558 – 5581R → W in CMAMMA. 1 Publication
    Corresponds to variant rs141090143 [ dbSNP | Ensembl ].
    VAR_066513

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK075499 mRNA. Translation: BAC11654.1.
    AK290963 mRNA. Translation: BAF83652.1.
    AC009113 Genomic DNA. No translation available.
    AC135782 Genomic DNA. No translation available.
    CH471184 Genomic DNA. Translation: EAW66744.1.
    BC028399 mRNA. Translation: AAH28399.1.
    BC072391 mRNA. Translation: AAH72391.1. Sequence problems.
    CCDSiCCDS10974.1.
    RefSeqiNP_001120686.1. NM_001127214.3.
    NP_001230208.1. NM_001243279.2.
    NP_777577.2. NM_174917.4.
    UniGeneiHs.461727.
    Hs.720526.

    Genome annotation databases

    EnsembliENST00000317447; ENSP00000320646; ENSG00000176715.
    ENST00000406948; ENSP00000384627; ENSG00000176715.
    GeneIDi197322.
    KEGGihsa:197322.
    UCSCiuc002fmp.3. human.

    Polymorphism databases

    DMDMi296439438.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK075499 mRNA. Translation: BAC11654.1 .
    AK290963 mRNA. Translation: BAF83652.1 .
    AC009113 Genomic DNA. No translation available.
    AC135782 Genomic DNA. No translation available.
    CH471184 Genomic DNA. Translation: EAW66744.1 .
    BC028399 mRNA. Translation: AAH28399.1 .
    BC072391 mRNA. Translation: AAH72391.1 . Sequence problems.
    CCDSi CCDS10974.1.
    RefSeqi NP_001120686.1. NM_001127214.3.
    NP_001230208.1. NM_001243279.2.
    NP_777577.2. NM_174917.4.
    UniGenei Hs.461727.
    Hs.720526.

    3D structure databases

    ProteinModelPortali Q4G176.
    SMRi Q4G176. Positions 43-564.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128248. 6 interactions.
    STRINGi 9606.ENSP00000320646.

    PTM databases

    PhosphoSitei Q4G176.

    Polymorphism databases

    DMDMi 296439438.

    Proteomic databases

    MaxQBi Q4G176.
    PaxDbi Q4G176.
    PRIDEi Q4G176.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317447 ; ENSP00000320646 ; ENSG00000176715 .
    ENST00000406948 ; ENSP00000384627 ; ENSG00000176715 .
    GeneIDi 197322.
    KEGGi hsa:197322.
    UCSCi uc002fmp.3. human.

    Organism-specific databases

    CTDi 197322.
    GeneCardsi GC16P089160.
    H-InvDB HIX0013347.
    HGNCi HGNC:27288. ACSF3.
    HPAi HPA008322.
    HPA008323.
    MIMi 614245. gene.
    614265. phenotype.
    neXtProti NX_Q4G176.
    Orphaneti 289504. Combined malonic and methylmalonic acidemia.
    PharmGKBi PA162375375.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0318.
    HOGENOMi HOG000229983.
    HOVERGENi HBG100430.
    InParanoidi Q4G176.
    OMAi MGKINKR.
    OrthoDBi EOG7W9RVK.
    PhylomeDBi Q4G176.
    TreeFami TF312995.

    Miscellaneous databases

    GeneWikii ACSF3.
    GenomeRNAii 197322.
    NextBioi 89644.
    PROi Q4G176.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q4G176.
    Bgeei Q4G176.
    CleanExi HS_ACSF3.
    Genevestigatori Q4G176.

    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].
    2. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Embryo.
    3. "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].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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], VARIANTS PRO-2; PRO-17 AND MET-372.
      Tissue: Brain.
    6. "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: FUNCTION, ENZYME ACTIVITY.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANTS CMAMMA ARG-198; LEU-243; ILE-358; LYS-359; THR-462; 465-GLN--GLY-470 DEL; GLN-471; TRP-471; SER-480 AND TRP-558, FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiACSF3_HUMAN
    AccessioniPrimary (citable) accession number: Q4G176
    Secondary accession number(s): A8K4J8
    , C9JQL6, Q6INA0, Q8N2F7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 81 of the entry and version 3 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