ID   ACADL_HUMAN             Reviewed;         430 AA.
AC   P28330;
DT   01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-1992, sequence version 1.
DT   25-NOV-2008, entry version 86.
DE   RecName: Full=Long-chain specific acyl-CoA dehydrogenase, mitochondrial;
DE            Short=LCAD;
DE            EC=1.3.99.13;
DE   Flags: Precursor;
GN   Name=ACADL;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=92128943; PubMed=1774065; DOI=10.1016/0888-7543(91)90068-P;
RA   Indo Y., Yang-Feng T., Glassberg R., Tanaka K.;
RT   "Molecular cloning and nucleotide sequence of cDNAs encoding human
RT   long-chain acyl-CoA dehydrogenase and assignment of the location of
RT   its gene (ACADL) to chromosome 2.";
RL   Genomics 11:609-620(1991).
RN   [2]
RP   ERRATUM.
RX   MEDLINE=92217993; PubMed=1559716; DOI=10.1016/0888-7543(92)90462-2;
RA   Indo Y., Yang-Feng T., Glassberg R., Tanaka K.;
RL   Genomics 12:626-626(1992).
RN   [3]
RP   VARIANT SER-303, AND VARIANT LCAD DEFICIENCY LYS-333.
RA   Kelly D., Ogden M., Hale D., Hainline B., Strauss A.;
RT   "The molecular basis of human long chain acyl-CoA dehydrogenase
RT   deficiency.";
RL   Am. J. Hum. Genet. 49:409-409(1991).
CC   -!- CATALYTIC ACTIVITY: Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA +
CC       reduced acceptor.
CC   -!- COFACTOR: FAD.
CC   -!- PATHWAY: Lipid metabolism; mitochondrial fatty acid beta-
CC       oxidation.
CC   -!- SUBUNIT: Homotetramer.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion matrix.
CC   -!- DISEASE: Defects in ACADL are the cause of long-chain acyl-CoA
CC       dehydrogenase deficiency (LCAD deficiency) [MIM:201460]. LCAD
CC       deficiency leads to non-ketotic hypoglycemia.
CC   -!- MISCELLANEOUS: A number of straight-chain acyl-CoA dehydrogenases
CC       of different substrate specificities are present in mammalian
CC       tissues.
CC   -!- SIMILARITY: Belongs to the acyl-CoA dehydrogenase family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.genetests.org/query?gene=ACADL";
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DR   EMBL; M74096; AAA51565.1; -; mRNA.
DR   UniGene; Hs.471277; -.
DR   HSSP; P26440; 1IVH.
DR   PhosphoSite; P28330; -.
DR   Ensembl; ENSG00000115361; Homo sapiens.
DR   HGNC; HGNC:88; ACADL.
DR   HPA; HPA010611; -.
DR   HPA; HPA011990; -.
DR   MIM; 201460; phenotype.
DR   MIM; 609576; gene.
DR   Orphanet; 99900; Acyl-CoA dehydrogenase, long chain, deficiency of.
DR   PharmGKB; PA24424; -.
DR   HOGENOM; P28330; -.
DR   HOVERGEN; P28330; -.
DR   Reactome; REACT_602; Lipid and lipoprotein metabolism.
DR   ArrayExpress; P28330; -.
DR   CleanEx; HS_ACADL; -.
DR   GermOnline; ENSG00000115361; Homo sapiens.
DR   GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0009055; F:electron carrier activity; IEA:InterPro.
DR   GO; GO:0050660; F:FAD binding; IEA:InterPro.
DR   GO; GO:0004466; F:long-chain-acyl-CoA dehydrogenase activity; TAS:ProtInc.
DR   GO; GO:0006631; P:fatty acid metabolic process; IEA:UniProtKB-KW.
DR   GO; GO:0055114; P:oxidation reduction; IEA:UniProtKB-KW.
DR   InterPro; IPR006091; Acyl-CoA_DHase/Oxase_M.
DR   InterPro; IPR006089; Acyl-CoA_DHase_CS.
DR   InterPro; IPR006092; Acyl-CoA_DHase_N.
DR   InterPro; IPR006090; Acyl-CoA_Oxase/DHase_1.
DR   InterPro; IPR013786; AcylCoA_DH/ox_N.
DR   InterPro; IPR013764; AcylCoA_oxidase/DH_1/2_C.
DR   Gene3D; G3DSA:2.40.110.10; Acyl_CoA_DH/ox_M; 1.
DR   Gene3D; G3DSA:1.10.540.10; AcylCoA_DH/ox_N; 1.
DR   Gene3D; G3DSA:1.20.140.10; AcylCoA_DH_1/2_C; 1.
DR   Pfam; PF00441; Acyl-CoA_dh_1; 1.
DR   Pfam; PF02770; Acyl-CoA_dh_M; 1.
DR   Pfam; PF02771; Acyl-CoA_dh_N; 1.
DR   PROSITE; PS00072; ACYL_COA_DH_1; 1.
DR   PROSITE; PS00073; ACYL_COA_DH_2; 1.
PE   1: Evidence at protein level;
KW   Disease mutation; FAD; Fatty acid metabolism; Flavoprotein;
KW   Lipid metabolism; Mitochondrion; Oxidoreductase; Polymorphism;
KW   Transit peptide.
FT   TRANSIT       1     30       Mitochondrion.
FT   CHAIN        31    430       Long-chain specific acyl-CoA
FT                                dehydrogenase, mitochondrial.
FT                                /FTId=PRO_0000000509.
FT   VARIANT     303    303       T -> S (in dbSNP:rs1801204).
FT                                /FTId=VAR_000328.
FT   VARIANT     333    333       Q -> K (in LCAD deficiency).
FT                                /FTId=VAR_000329.
SQ   SEQUENCE   430 AA;  47670 MW;  EBE93BC23A0F8951 CRC64;
     MAARLLRGSL RVLGGHRAPR QLPAARCSHS GGEERLETPS AKKLTDIGIR RIFSPEHDIF
     RKSVRKFFQE EVIPHHSEWE KAGEVSREVW EKAGKQGLLG VNIAEHLGGI GGDLYSAAIV
     WEEQAYSNCS GPGFSIHSGI VMSYITNHGS EEQIKHFIPQ MTAGKCIGAI AMTEPGAGSD
     LQGIKTNAKK DGSDWILNGS KVFISNGSLS DVVIVVAVTN HEAPSPAHGI SLFLVENGMK
     GFIKGRKLHK MGLKAQDTAE LFFEDIRLPA SALLGEENKG FYYIMKELPQ ERLLIADVAI
     SATEFMFEET RNYVKQRKAF GKTVAHLQTV QHQLAELKTH ICVTRAFVDN CLQLHEAKRL
     DSATACMAKY WASELQNSVA YDCVQLHGGW GYMWEYPIAK AYVDARVQPI YGGTNEIMKE
     LIAREIVFDK
//