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O60488

- ACSL4_HUMAN

UniProt

O60488 - ACSL4_HUMAN

Protein

Long-chain-fatty-acid--CoA ligase 4

Gene

ACSL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 2 (27 Apr 2001)
      Previous versions | rss
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    Functioni

    Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.

    Catalytic activityi

    ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.

    Cofactori

    Magnesium.By similarity

    GO - Molecular functioni

    1. arachidonate-CoA ligase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB-KW
    3. long-chain fatty acid-CoA ligase activity Source: MGI
    4. very long-chain fatty acid-CoA ligase activity Source: UniProtKB

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. dendritic spine development Source: Ensembl
    3. embryonic process involved in female pregnancy Source: Ensembl
    4. fatty acid transport Source: Ensembl
    5. lipid biosynthetic process Source: UniProtKB
    6. lipid metabolic process Source: UniProtKB
    7. long-chain fatty acid metabolic process Source: GOC
    8. long-chain fatty-acyl-CoA biosynthetic process Source: Reactome
    9. negative regulation of prostaglandin secretion Source: UniProtKB
    10. positive regulation of cell growth Source: UniProtKB
    11. response to interleukin-15 Source: Ensembl
    12. response to nutrient Source: Ensembl
    13. small molecule metabolic process Source: Reactome
    14. triglyceride biosynthetic process Source: Reactome

    Keywords - Molecular functioni

    Ligase

    Keywords - Biological processi

    Fatty acid metabolism, Lipid metabolism

    Keywords - Ligandi

    ATP-binding, Magnesium, Nucleotide-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00935-MONOMER.
    BRENDAi6.2.1.3. 2681.
    ReactomeiREACT_380. Synthesis of very long-chain fatty acyl-CoAs.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Long-chain-fatty-acid--CoA ligase 4 (EC:6.2.1.3)
    Alternative name(s):
    Long-chain acyl-CoA synthetase 4
    Short name:
    LACS 4
    Gene namesi
    Name:ACSL4
    Synonyms:ACS4, FACL4, LACS4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:3571. ACSL4.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. endoplasmic reticulum membrane Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. integral component of membrane Source: UniProtKB-KW
    5. lipid particle Source: UniProtKB
    6. membrane Source: UniProtKB
    7. mitochondrial outer membrane Source: UniProtKB-SubCell
    8. neuronal cell body Source: Ensembl
    9. peroxisomal membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome, Mitochondrion, Mitochondrion outer membrane, Peroxisome

    Pathology & Biotechi

    Involvement in diseasei

    Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti570 – 5701R → S in MRX63. 1 Publication
    VAR_013180
    Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
    Note: The gene represented in this entry may be involved in disease pathogenesis.

    Keywords - Diseasei

    Alport syndrome, Deafness, Disease mutation, Elliptocytosis, Hereditary hemolytic anemia, Mental retardation

    Organism-specific databases

    MIMi300194. phenotype.
    300387. phenotype.
    Orphaneti86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
    777. X-linked non-syndromic intellectual disability.
    PharmGKBiPA27968.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 711711Long-chain-fatty-acid--CoA ligase 4PRO_0000193109Add
    BLAST

    Proteomic databases

    MaxQBiO60488.
    PaxDbiO60488.
    PRIDEiO60488.

    PTM databases

    PhosphoSiteiO60488.

    Expressioni

    Gene expression databases

    ArrayExpressiO60488.
    BgeeiO60488.
    CleanExiHS_ACSL4.
    GenevestigatoriO60488.

    Organism-specific databases

    HPAiHPA000286.
    HPA005552.

    Interactioni

    Protein-protein interaction databases

    BioGridi108478. 11 interactions.
    IntActiO60488. 7 interactions.
    MINTiMINT-3000036.
    STRINGi9606.ENSP00000339787.

    Structurei

    3D structure databases

    ProteinModelPortaliO60488.
    SMRiO60488. Positions 122-598.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini29 – 711683CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; Signal-anchor for type III membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1022.
    HOGENOMiHOG000159459.
    HOVERGENiHBG106947.
    InParanoidiO60488.
    KOiK01897.
    OMAiNAMKLER.
    OrthoDBiEOG7P2XRD.
    PhylomeDBiO60488.
    TreeFamiTF314012.

    Family and domain databases

    InterProiIPR020845. AMP-binding_CS.
    IPR000873. AMP-dep_Synth/Lig.
    [Graphical view]
    PfamiPF00501. AMP-binding. 1 hit.
    [Graphical view]
    PROSITEiPS00455. AMP_BINDING. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform Long (identifier: O60488-1) [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

    MKLKLNVLTI ILLPVHLLIT IYSALIFIPW YFLTNAKKKN AMAKRIKAKP    50
    TSDKPGSPYR SVTHFDSLAV IDIPGADTLD KLFDHAVSKF GKKDSLGTRE 100
    ILSEENEMQP NGKVFKKLIL GNYKWMNYLE VNRRVNNFGS GLTALGLKPK 150
    NTIAIFCETR AEWMIAAQTC FKYNFPLVTL YATLGKEAVV HGLNESEASY 200
    LITSVELLES KLKTALLDIS CVKHIIYVDN KAINKAEYPE GFEIHSMQSV 250
    EELGSNPENL GIPPSRPTPS DMAIVMYTSG STGRPKGVMM HHSNLIAGMT 300
    GQCERIPGLG PKDTYIGYLP LAHVLELTAE ISCFTYGCRI GYSSPLTLSD 350
    QSSKIKKGSK GDCTVLKPTL MAAVPEIMDR IYKNVMSKVQ EMNYIQKTLF 400
    KIGYDYKLEQ IKKGYDAPLC NLLLFKKVKA LLGGNVRMML SGGAPLSPQT 450
    HRFMNVCFCC PIGQGYGLTE SCGAGTVTEV TDYTTGRVGA PLICCEIKLK 500
    DWQEGGYTIN DKPNPRGEIV IGGQNISMGY FKNEEKTAED YSVDENGQRW 550
    FCTGDIGEFH PDGCLQIIDR KKDLVKLQAG EYVSLGKVEA ALKNCPLIDN 600
    ICAFAKSDQS YVISFVVPNQ KRLTLLAQQK GVEGTWVDIC NNPAMEAEIL 650
    KEIREAANAM KLERFEIPIK VRLSPEPWTP ETGLVTDAFK LKRKELRNHY 700
    LKDIERMYGG K 711
    Length:711
    Mass (Da):79,188
    Last modified:April 27, 2001 - v2
    Checksum:i6483CD17FE78FE73
    GO
    Isoform Short (identifier: O60488-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-41: Missing.

    Show »
    Length:670
    Mass (Da):74,436
    Checksum:i676E2E8124D399F2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti181 – 1811Y → C in CAA73314. (PubMed:9480748)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti133 – 1331R → C in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036376
    Natural varianti570 – 5701R → S in MRX63. 1 Publication
    VAR_013180

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 4141Missing in isoform Short. 4 PublicationsVSP_000238Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030555 mRNA. Translation: AAC17493.1.
    Y12777 mRNA. Translation: CAA73314.1.
    Y13058 mRNA. Translation: CAA73501.1.
    AK292070 mRNA. Translation: BAF84759.1.
    CH471120 Genomic DNA. Translation: EAX02671.1.
    CH471120 Genomic DNA. Translation: EAX02672.1.
    CH471120 Genomic DNA. Translation: EAX02673.1.
    CH471120 Genomic DNA. Translation: EAX02674.1.
    BC034959 mRNA. Translation: AAH34959.1.
    CCDSiCCDS14548.1. [O60488-1]
    CCDS14549.1. [O60488-2]
    RefSeqiNP_004449.1. NM_004458.2. [O60488-2]
    NP_075266.1. NM_022977.2. [O60488-1]
    XP_005262165.1. XM_005262108.1. [O60488-1]
    XP_005262166.1. XM_005262109.1. [O60488-1]
    XP_005262167.1. XM_005262110.1. [O60488-2]
    XP_006724698.1. XM_006724635.1. [O60488-2]
    UniGeneiHs.268785.

    Genome annotation databases

    EnsembliENST00000340800; ENSP00000339787; ENSG00000068366. [O60488-1]
    ENST00000348502; ENSP00000262835; ENSG00000068366. [O60488-2]
    ENST00000469796; ENSP00000419171; ENSG00000068366. [O60488-1]
    ENST00000469857; ENSP00000423077; ENSG00000068366.
    GeneIDi2182.
    KEGGihsa:2182.
    UCSCiuc004eoi.2. human. [O60488-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF030555 mRNA. Translation: AAC17493.1 .
    Y12777 mRNA. Translation: CAA73314.1 .
    Y13058 mRNA. Translation: CAA73501.1 .
    AK292070 mRNA. Translation: BAF84759.1 .
    CH471120 Genomic DNA. Translation: EAX02671.1 .
    CH471120 Genomic DNA. Translation: EAX02672.1 .
    CH471120 Genomic DNA. Translation: EAX02673.1 .
    CH471120 Genomic DNA. Translation: EAX02674.1 .
    BC034959 mRNA. Translation: AAH34959.1 .
    CCDSi CCDS14548.1. [O60488-1 ]
    CCDS14549.1. [O60488-2 ]
    RefSeqi NP_004449.1. NM_004458.2. [O60488-2 ]
    NP_075266.1. NM_022977.2. [O60488-1 ]
    XP_005262165.1. XM_005262108.1. [O60488-1 ]
    XP_005262166.1. XM_005262109.1. [O60488-1 ]
    XP_005262167.1. XM_005262110.1. [O60488-2 ]
    XP_006724698.1. XM_006724635.1. [O60488-2 ]
    UniGenei Hs.268785.

    3D structure databases

    ProteinModelPortali O60488.
    SMRi O60488. Positions 122-598.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108478. 11 interactions.
    IntActi O60488. 7 interactions.
    MINTi MINT-3000036.
    STRINGi 9606.ENSP00000339787.

    Chemistry

    DrugBanki DB00159. Icosapent.
    DB00412. Rosiglitazone.

    PTM databases

    PhosphoSitei O60488.

    Proteomic databases

    MaxQBi O60488.
    PaxDbi O60488.
    PRIDEi O60488.

    Protocols and materials databases

    DNASUi 2182.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000340800 ; ENSP00000339787 ; ENSG00000068366 . [O60488-1 ]
    ENST00000348502 ; ENSP00000262835 ; ENSG00000068366 . [O60488-2 ]
    ENST00000469796 ; ENSP00000419171 ; ENSG00000068366 . [O60488-1 ]
    ENST00000469857 ; ENSP00000423077 ; ENSG00000068366 .
    GeneIDi 2182.
    KEGGi hsa:2182.
    UCSCi uc004eoi.2. human. [O60488-1 ]

    Organism-specific databases

    CTDi 2182.
    GeneCardsi GC0XM108872.
    HGNCi HGNC:3571. ACSL4.
    HPAi HPA000286.
    HPA005552.
    MIMi 300157. gene.
    300194. phenotype.
    300387. phenotype.
    neXtProti NX_O60488.
    Orphaneti 86818. Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis.
    777. X-linked non-syndromic intellectual disability.
    PharmGKBi PA27968.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1022.
    HOGENOMi HOG000159459.
    HOVERGENi HBG106947.
    InParanoidi O60488.
    KOi K01897.
    OMAi NAMKLER.
    OrthoDBi EOG7P2XRD.
    PhylomeDBi O60488.
    TreeFami TF314012.

    Enzyme and pathway databases

    BioCyci MetaCyc:HS00935-MONOMER.
    BRENDAi 6.2.1.3. 2681.
    Reactomei REACT_380. Synthesis of very long-chain fatty acyl-CoAs.

    Miscellaneous databases

    ChiTaRSi ACSL4. human.
    GeneWikii ACSL4.
    GenomeRNAii 2182.
    NextBioi 8811.
    PROi O60488.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O60488.
    Bgeei O60488.
    CleanExi HS_ACSL4.
    Genevestigatori O60488.

    Family and domain databases

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

    Publicationsi

    1. "Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4)."
      Cao Y., Traer E., Zimmerman G.A., McIntyre T.M., Prescott S.M.
      Genomics 49:327-330(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
    2. "FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation."
      Piccini M., Vitelli F., Bruttini M., Pober B.R., Jonsson J.J., Villanova M., Zollo M., Borsani G., Ballabio A., Renieri A.
      Genomics 47:350-358(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
      Tissue: Placenta and Retina.
    3. "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 SHORT).
      Tissue: Stomach.
    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 SHORT).
      Tissue: Testis.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. Cited for: VARIANT MRX63 SER-570.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-133.

    Entry informationi

    Entry nameiACSL4_HUMAN
    AccessioniPrimary (citable) accession number: O60488
    Secondary accession number(s): D3DUY2
    , O60848, O60849, Q5JWV8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: April 27, 2001
    Last modified: October 1, 2014
    This is version 148 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 X
      Human chromosome X: 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