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Q96CM8

- ACSF2_HUMAN

UniProt

Q96CM8 - ACSF2_HUMAN

Protein

Acyl-CoA synthetase family member 2, mitochondrial

Gene

ACSF2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    Functioni

    Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation.2 Publications

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei493 – 4931ATPBy similarity
    Binding sitei508 – 5081ATPBy similarity
    Binding sitei599 – 5991ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi263 – 2719ATPBy similarity

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. ligase activity 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, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Acyl-CoA synthetase family member 2, mitochondrial (EC:6.2.1.-)
    Gene namesi
    Name:ACSF2
    ORF Names:UNQ493/PRO1009
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:26101. ACSF2.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162375338.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4141MitochondrionSequence AnalysisAdd
    BLAST
    Chaini42 – 615574Acyl-CoA synthetase family member 2, mitochondrialPRO_0000315793Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei179 – 1791N6-acetyllysineBy similarity
    Modified residuei182 – 1821N6-acetyllysine; alternateBy similarity
    Modified residuei182 – 1821N6-succinyllysine; alternateBy similarity
    Modified residuei340 – 3401N6-acetyllysineBy similarity
    Modified residuei398 – 3981N6-acetyllysineBy similarity
    Modified residuei478 – 4781N6-succinyllysineBy similarity
    Modified residuei510 – 5101N6-acetyllysineBy similarity
    Modified residuei544 – 5441N6-acetyllysine; alternateBy similarity
    Modified residuei544 – 5441N6-succinyllysine; alternateBy similarity
    Modified residuei570 – 5701N6-acetyllysine; alternateBy similarity
    Modified residuei570 – 5701N6-succinyllysine; alternateBy similarity
    Modified residuei599 – 5991N6-succinyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ96CM8.
    PaxDbiQ96CM8.
    PeptideAtlasiQ96CM8.
    PRIDEiQ96CM8.

    Expressioni

    Inductioni

    By PPARG.1 Publication

    Gene expression databases

    ArrayExpressiQ96CM8.
    BgeeiQ96CM8.
    CleanExiHS_ACSF2.
    GenevestigatoriQ96CM8.

    Organism-specific databases

    HPAiHPA024693.

    Interactioni

    Protein-protein interaction databases

    BioGridi123187. 1 interaction.
    IntActiQ96CM8. 4 interactions.
    STRINGi9606.ENSP00000300441.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96CM8.
    SMRiQ96CM8. Positions 72-609.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0318.
    HOGENOMiHOG000229999.
    HOVERGENiHBG103408.
    InParanoidiQ96CM8.
    KOiK00666.
    PhylomeDBiQ96CM8.
    TreeFamiTF313466.

    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 (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96CM8-1) [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

    MAVYVGMLRL GRLCAGSSGV LGARAALSRS WQEARLQGVR FLSSREVDRM    50
    VSTPIGGLSY VQGCTKKHLN SKTVGQCLET TAQRVPEREA LVVLHEDVRL 100
    TFAQLKEEVD KAASGLLSIG LCKGDRLGMW GPNSYAWVLM QLATAQAGII 150
    LVSVNPAYQA MELEYVLKKV GCKALVFPKQ FKTQQYYNVL KQICPEVENA 200
    QPGALKSQRL PDLTTVISVD APLPGTLLLD EVVAAGSTRQ HLDQLQYNQQ 250
    FLSCHDPINI QFTSGTTGSP KGATLSHYNI VNNSNILGER LKLHEKTPEQ 300
    LRMILPNPLY HCLGSVAGTM MCLMYGATLI LASPIFNGKK ALEAISRERG 350
    TFLYGTPTMF VDILNQPDFS SYDISTMCGG VIAGSPAPPE LIRAIINKIN 400
    MKDLVVAYGT TENSPVTFAH FPEDTVEQKA ESVGRIMPHT EARIMNMEAG 450
    TLAKLNTPGE LCIRGYCVML GYWGEPQKTE EAVDQDKWYW TGDVATMNEQ 500
    GFCKIVGRSK DMIIRGGENI YPAELEDFFH THPKVQEVQV VGVKDDRMGE 550
    EICACIRLKD GEETTVEEIK AFCKGKISHF KIPKYIVFVT NYPLTISGKI 600
    QKFKLREQME RHLNL 615
    Length:615
    Mass (Da):68,125
    Last modified:January 15, 2008 - v2
    Checksum:iA3356EEA7C14730B
    GO
    Isoform 2 (identifier: Q96CM8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         43-43: S → SARGGMEAGRQRISVPSSFTASAAAH

    Note: No experimental confirmation available.

    Show »
    Length:640
    Mass (Da):70,623
    Checksum:iDD1F4E5DEBDE9CE0
    GO
    Isoform 3 (identifier: Q96CM8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         146-158: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:602
    Mass (Da):66,798
    Checksum:iCF7D0940C1611AC2
    GO
    Isoform 4 (identifier: Q96CM8-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-160: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:455
    Mass (Da):50,880
    Checksum:i61FC83503081C5C9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti75 – 751G → V.1 Publication
    Corresponds to variant rs17856448 [ dbSNP | Ensembl ].
    VAR_038304
    Natural varianti316 – 3161V → M.
    Corresponds to variant rs3744523 [ dbSNP | Ensembl ].
    VAR_038305

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 160160Missing in isoform 4. 1 PublicationVSP_055803Add
    BLAST
    Alternative sequencei43 – 431S → SARGGMEAGRQRISVPSSFT ASAAAH in isoform 2. 1 PublicationVSP_055804
    Alternative sequencei146 – 15813Missing in isoform 3. 1 PublicationVSP_055805Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358660 mRNA. Translation: AAQ89023.1.
    AK024573 mRNA. Translation: BAB14930.1.
    AK294205 mRNA. Translation: BAG57517.1.
    AK295258 mRNA. Translation: BAG58247.1.
    AK300625 mRNA. Translation: BAG62317.1.
    AC004707 Genomic DNA. No translation available.
    AC021491 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94612.1.
    BC012053 mRNA. Translation: AAH12053.1.
    BC014123 mRNA. Translation: AAH14123.1.
    CCDSiCCDS11567.1.
    RefSeqiNP_001275901.1. NM_001288972.1.
    NP_079425.3. NM_025149.5.
    UniGeneiHs.288959.

    Genome annotation databases

    EnsembliENST00000300441; ENSP00000300441; ENSG00000167107. [Q96CM8-1]
    ENST00000427954; ENSP00000401831; ENSG00000167107. [Q96CM8-2]
    ENST00000502667; ENSP00000421884; ENSG00000167107. [Q96CM8-3]
    GeneIDi80221.
    KEGGihsa:80221.
    UCSCiuc002iqu.2. human.

    Polymorphism databases

    DMDMi166198367.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358660 mRNA. Translation: AAQ89023.1 .
    AK024573 mRNA. Translation: BAB14930.1 .
    AK294205 mRNA. Translation: BAG57517.1 .
    AK295258 mRNA. Translation: BAG58247.1 .
    AK300625 mRNA. Translation: BAG62317.1 .
    AC004707 Genomic DNA. No translation available.
    AC021491 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94612.1 .
    BC012053 mRNA. Translation: AAH12053.1 .
    BC014123 mRNA. Translation: AAH14123.1 .
    CCDSi CCDS11567.1.
    RefSeqi NP_001275901.1. NM_001288972.1.
    NP_079425.3. NM_025149.5.
    UniGenei Hs.288959.

    3D structure databases

    ProteinModelPortali Q96CM8.
    SMRi Q96CM8. Positions 72-609.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123187. 1 interaction.
    IntActi Q96CM8. 4 interactions.
    STRINGi 9606.ENSP00000300441.

    Polymorphism databases

    DMDMi 166198367.

    Proteomic databases

    MaxQBi Q96CM8.
    PaxDbi Q96CM8.
    PeptideAtlasi Q96CM8.
    PRIDEi Q96CM8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000300441 ; ENSP00000300441 ; ENSG00000167107 . [Q96CM8-1 ]
    ENST00000427954 ; ENSP00000401831 ; ENSG00000167107 . [Q96CM8-2 ]
    ENST00000502667 ; ENSP00000421884 ; ENSG00000167107 . [Q96CM8-3 ]
    GeneIDi 80221.
    KEGGi hsa:80221.
    UCSCi uc002iqu.2. human.

    Organism-specific databases

    CTDi 80221.
    GeneCardsi GC17P048503.
    HGNCi HGNC:26101. ACSF2.
    HPAi HPA024693.
    MIMi 610465. gene.
    neXtProti NX_Q96CM8.
    PharmGKBi PA162375338.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0318.
    HOGENOMi HOG000229999.
    HOVERGENi HBG103408.
    InParanoidi Q96CM8.
    KOi K00666.
    PhylomeDBi Q96CM8.
    TreeFami TF313466.

    Miscellaneous databases

    ChiTaRSi ACSF2. human.
    GenomeRNAii 80221.
    NextBioi 70634.
    PROi Q96CM8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96CM8.
    Bgeei Q96CM8.
    CleanExi HS_ACSF2.
    Genevestigatori Q96CM8.

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    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] (ISOFORMS 1; 2; 3 AND 4).
      Tissue: Adipose tissue, Amygdala and Caudate nucleus.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [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] (ISOFORM 1), VARIANT VAL-75.
      Tissue: Kidney and Skin.
    6. "Identification of novel PPARgamma target genes in primary human adipocytes."
      Perera R.J., Marcusson E.G., Koo S., Kang X., Kim Y., White N., Dean N.M.
      Gene 369:90-99(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INDUCTION.
    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: FUNCTION, ENZYME ACTIVITY.

    Entry informationi

    Entry nameiACSF2_HUMAN
    AccessioniPrimary (citable) accession number: Q96CM8
    Secondary accession number(s): B4DFQ6
    , B4DHT5, B4DUF5, Q9H7G2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: January 15, 2008
    Last modified: October 1, 2014
    This is version 93 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 17
      Human chromosome 17: 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