UniProt:P13196 ALAS1

chain
  • transit peptide:1-56
  • chain:57-640
checksum 5E952DCCFFD6873F
comment
  • FUNCTION Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products.CATALYTIC ACTIVITY glycine + H(+) + succinyl-CoA = 5-aminolevulinate + CO2 + CoACOFACTOR Activity increases about 2-fold over 72 hours of hypoxia compared with normoxia (PubMed:16234850). Activity increases in the presence of phenobarbital, chenodeoxycholic and NR1H4/FXR-specific agonist GW4064 (PubMed:17975826).PATHWAY Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.SUBUNIT Homodimer (By similarity). Interacts (hydroxylated form) with VHL (PubMed:16234850).INTERACTION Localizes to the matrix side of the mitochondrion inner membrane.ALTERNATIVE PRODUCTS Up-regulated by bile acids; chenodeoxycholic acid, ursodeoxycholic acid and lithocholic acid and by the NR1H4/FXR-specific agonist GW4064.PTM In normoxia, is hydroxylated at Pro-576, promoting interaction with VHL, initiating ubiquitination and subsequent degradation via the proteasome.PTM Ubiquitinated; in normoxia following hydroxylation and interaction with VHL, leading to its subsequent degradation via the proteasome.SIMILARITY Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
crossReference
databaseName UniProt
dbId 56436
description
  • recommendedName: 5-aminolevulinate synthase, non-specific, mitochondrial shortName: ALAS-H ecNumber evidence="5 6"2.3.1.37 alternativeName: 5-aminolevulinic acid synthase 1 alternativeName: Delta-ALA synthase 1 alternativeName: Delta-aminolevulinate synthase 1
displayName UniProt:P13196 ALAS1
geneName
  • ALAS1
  • ALAS3
  • ALASH
  • OK/SW-cl.121
identifier P13196
isSequenceChanged false
keyword
  • Acyltransferase
  • Alternative splicing
  • Heme biosynthesis
  • Hydroxylation
  • Membrane
  • Mitochondrion
  • Mitochondrion inner membrane
  • Pyridoxal phosphate
  • Reference proteome
  • Transferase
  • Transit peptide
  • Ubl conjugation
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • ALAS1
otherIdentifier
  • 11719328_a_at
  • 11719329_x_at
  • 11733041_a_at
  • 11750973_a_at
  • 16941344
  • 205633_PM_s_at
  • 205633_s_at
  • 211
  • 2623526
  • 2623527
  • 2623529
  • 2623530
  • 2623532
  • 2623535
  • 2623537
  • 2623538
  • 2623539
  • 2623540
  • 2623542
  • 2623543
  • 2623545
  • 2623546
  • 2623547
  • 2623551
  • 2623552
  • 2623553
  • 37674_at
  • 8080184
  • A_23_P57877
  • A_24_P191588
  • GE59815
  • GE60231
  • GO:0002376
  • GO:0003824
  • GO:0003870
  • GO:0005515
  • GO:0005634
  • GO:0005654
  • GO:0005739
  • GO:0005743
  • GO:0005759
  • GO:0005829
  • GO:0006778
  • GO:0006782
  • GO:0006783
  • GO:0009058
  • GO:0016020
  • GO:0016740
  • GO:0016746
  • GO:0030154
  • GO:0030170
  • GO:0033014
  • GO:0042541
  • GO:0042802
  • GO:0043226
  • GO:0048821
  • GO:0048856
  • GO:1903412
  • HMNXSV003050344
  • ILMN_1700047
  • ILMN_1728309
  • ILMN_2385647
  • PH_hs_0026670
  • PH_hs_0031344
  • TC03000329.hg
  • Y00451_s_at
  • g4502024_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • HEM1_HUMAN
sequenceLength 640
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/P13196

Referrals

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(referenceSequence)
(interactor)
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