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0HMGCL_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionHydroxymethylglutaryl-coa lyase, mitochondrial precursor (ec (hmg-coa lyase) (hl) (3-hydroxy-3-methylglutarate-coa lyase).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005759 mitochondrial matrix (NAS)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Pyruvate carboxylase () (PC). member of the biotin-dependentenzyme family.s involved in the gluconeogenesis by mediating thecarboxylation of pyruvate to oxaloacetate. Biotin-dependent carboxylaseenzymes perform a two step reaction. Enzyme-bound biotin is first carboxylatedby bicarbonate and ATP and the carboxyl group temporarily bound to biotin issubsequently transferred to an acceptor substrate such as pyruvate . PC hasthree functional domains: a biotin carboxylase (BC) domain. carboxyltransferase (CT) domain which perform the second part of thereaction and a biotinyl domain . The mechanism by whichthe carboxyl group is transferred from the carboxybiotin to the pyruvate is notwell understood.The pyruvate carboxyltransferase domain is also found in other pyruvatebinding enzymes and acetyl-CoA dependent enzymes suggesting that this domaincan be associated with different enzymatic activities.This domain is found towards the N-terminal region of various aldolase enzymes. This N-terminal TIM barrel domain interacts with the C-terminal domain. The C-terminal DmpG_comm domain () is thought to promote heterodimerisation with members of to form a bifunctional aldolase-dehydrogenase .
  IPR000891:Pyruvate carboxyltransferase
SequencesProtein: HMGCL_HUMAN (325 aa)
mRNA: NM_000191
Local Annotation
Synapse Ontology
mitochondria are frequently observed in the vicinity of the synaptic vesicle clusters, in agreement with the ATP requirement of several steps of the vesicle cycle.
sdb:0118 mitochondria  (Evidence:keywords)
KO assignmentK01640
  Level 3 annotation:
    hydroxymethylglutaryl-CoA lyase
  Level 2 annotation:
    Butanoate metabolism
    Synthesis and degradation of ketone bodies
     leucine and isoleucine degradation
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 230 residues, 24000954-24001641Exon2: 44 residues, 24003476-24003602Exon3: 65 residues, 24007211-24007400Exon4: 23 residues, 24009812-24009876Exon5: 51 residues, 24013266-24013415Exon6: 34 residues, 24015751-24015847Exon7: 38 residues, 24016552-24016660Exon8: 30 residues, 24019586-24019670Exon9: 36 residues, 24024432-24024536Exon10: 2 residues, -Jump to HMGCL_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3779 23390975-23393809 ~-3K 651(HTR1D)(-)Loci: 3780 23757042-23758872 ~-2K 667(ID3)(-)Loci: 3781 24000954-24024536 ~-24K 680(HMGCL)(-)Loci: 3782 24073047-24112404 ~-39K 686(CNR2)(-)Loci: 3783 24168159-24179408 ~-11K 691(FUSIP1)(-)Loci: 2490 23218532-23282771 ~-64K 646(AOF2)(+)Link out to UCSC