HMGCS1
entrez
3157
canonical
uniprot
Q01581
canonical
ensembl
ENSG00000112972
resolver
ensp
ENSP00000322706
resolver
ensp
ENSP00000399402
resolver
enst
ENST00000325110
resolver
enst
ENST00000433297
resolver
genesymbol
HMGCS1
resolver
genesymbol_syn
HMGCS
resolver
hgnc
HGNC:5007
resolver
uniprot
B2RDL8
resolver
uniprot_entry
HMCS1_HUMAN
resolver
uniprot_sec
B2RDL8
resolver
amino_acid_sequence
MPGSLPLNAEACWPKDVGIVALEIYFPSQYVDQAELEKYDGVDAGKYTIGLGQAKMGFCTDREDINSLCMTVVQNLMERNNLSYDCIGRLEVGTETIIDKSKSVKTNLMQLFEESGNTDIEGIDTTNACYGGTAAVFNAVNWIESSSWDGRYALVVAGDIAVYATGNARPTGGVGAVALLIGPNAPLIFERGLRGTHMQHAYDFYKPDMLSEYPIVDGKLSIQCYLSALDRCYSVYCKKIHAQWQKEGNDKDFTLNDFGFMIFHSPYCKLVQKSLARMLLNDFLNDQNRDKNSIYSGLEAFGDVKLEDTYFDRDVEKAFMKASSELFSQKTKASLLVSNQNGNMYTSSVYGSLASVLAQYSPQQLAGKRIGVFSYGSGLAATLYSLKVTQDATPGSALDKITASLCDLKSRLDSRTGVAPDVFAENMKLREDTHHLVNYIPQGSIDSLFEGTWYLVRVDEKHRRTYARRPTPNDDTLDEGVGLVHSNIATEHIPSPAKKVPRLPATAAEPEAAVISNGEH
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 28 with rigid spine (CMYO28) [MIM:621433]: A form of congenital myopathy, a clinically and genetically heterogeneous group of muscle disorders characterized by hypotonia and muscle weakness typically noticed at birth or during the neonatal period, and specific pathological features on muscle biopsy. CMYO28 is an autosomal recessive form characterized by spinal rigidity primarily affecting the cervical and dorsolumbar regions, scoliosis, and respiratory insufficiency. {ECO:0000269|PubMed:39531736}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.3.10
uniprot
proteins
function
FUNCTION: Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis. {ECO:0000269|PubMed:39531736, ECO:0000269|PubMed:7913309}.
uniprot
proteins
mass_dalton
57294
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="C->A,S: Loss of activity."; /evidence="ECO:0000269|PubMed:7913309
uniprot
proteins
pathway_participation
PATHWAY: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3.
uniprot
proteins
protein_family
HMG-CoA synthase family
uniprot
proteins
protein_family
Thiolase-like superfamily
uniprot
proteins
pubmed
1358203
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20346956
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
39531736
uniprot
proteins
pubmed
7913309
uniprot
proteins
sequence_length
520
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:1358203}.
uniprot
proteins