Reactome | UniProt:P13196 ALAS1

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UniProt:P13196 ALAS1 Show undefined attributes

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 succinyl-CoA + glycine + H(+) = 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	[DatabaseIdentifier:11467656] ENSEMBL:ENSG00000023330 [DatabaseIdentifier:12356310] RefSeq:NP_001291372.1 [DatabaseIdentifier:12356308] RefSeq:NP_001291373.1 [DatabaseIdentifier:12356309] RefSeq:NP_000679.1 [DatabaseIdentifier:12356307] RefSeq:NP_954635.1 [DatabaseIdentifier:12282609] Pharos - Targets:P13196 [DatabaseIdentifier:12260703] PRO:P13196 [DatabaseIdentifier:12122287] OpenTargets:ENSG00000023330 [DatabaseIdentifier:11837789] HPA:ENSG00000023330-ALAS1 [DatabaseIdentifier:11832499] HMDB Protein:HMDBP00022 [DatabaseIdentifier:11784696] GeneCards:ALAS1 [DatabaseIdentifier:11686239] ENSEMBL:ENST00000394965 [DatabaseIdentifier:11686237] ENSEMBL:ENST00000484952 [DatabaseIdentifier:11686236] ENSEMBL:ENST00000469224 [DatabaseIdentifier:11686238] ENSEMBL:ENST00000310271 [DatabaseIdentifier:11563540] ENSEMBL:ENSP00000309259 [DatabaseIdentifier:11563538] ENSEMBL:ENSP00000378416 [DatabaseIdentifier:11563539] ENSEMBL:ENSP00000418779 [DatabaseIdentifier:11563537] ENSEMBL:ENSP00000417719
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 Proteomics identification Pyridoxal phosphate Reference proteome Transferase Transit peptide Ubl conjugation
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
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 2623528 2623529 2623530 2623531 2623532 2623535 2623537 2623538 2623539 2623540 2623541 2623542 2623543 2623545 2623546 2623547 2623548 2623549 2623550 2623551 2623552 2623553 2623555 37674_at 8080184 A_23_P57877 A_24_P191588 GE59815 GE60231 GO:0001666 GO:0003870 GO:0005515 GO:0005654 GO:0005739 GO:0005743 GO:0005759 GO:0005829 GO:0006778 GO:0006782 GO:0006783 GO:0006784 GO:0006785 GO:0009058 GO:0009410 GO:0009635 GO:0010045 GO:0016020 GO:0016740 GO:0016746 GO:0030170 GO:0031667 GO:0032025 GO:0032869 GO:0033014 GO:0034698 GO:0042541 GO:0042802 GO:0045471 GO:0048821 GO:0048856 GO:0051591 GO:0070541 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	[EntityWithAccessionedSequence:R-HSA-1022086] PXLP-ALAS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-189438] ALAS1 [mitochondrial matrix] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000023330] ENSEMBL:ENSG00000023330 ALAS1 [ReferenceDNASequence:12735634] UCSC:P13196 ALAS1 [ReferenceDNASequence:12107906] OMIM:125290 ALAS1 [ReferenceDNASequence:12046154] NCBI Gene:211 ALAS1 [ReferenceDNASequence:11962061] Monarch:211 ALAS1 [ReferenceDNASequence:11873947] KEGG:hsa:211 ALAS1 [ReferenceDNASequence:11816321] HGNC:396 ALAS1 [ReferenceDNASequence:11435944] dbSNP Gene:211 ALAS1 [ReferenceDNASequence:11408773] CTD Gene:211 ALAS1 [ReferenceDNASequence:11399029] COSMIC - genes:ALAS1 ALAS1 [ReferenceDNASequence:11332272] BioGPS Gene:211 ALAS1
referenceTranscript	[ReferenceRNASequence:12538155] RefSeq:NM_001304444.1 ALAS1 [ReferenceRNASequence:12538154] RefSeq:NM_001304443.1 ALAS1 [ReferenceRNASequence:12538156] RefSeq:NM_199166.2 ALAS1 [ReferenceRNASequence:12538157] RefSeq:NM_000688.6 ALAS1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	HEM1_HUMAN
sequenceLength	640
species	[Species:48887] Homo sapiens
stId	uniprot:P13196
url	http://purl.uniprot.org/uniprot/P13196

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-1022086] PXLP-ALAS1 [mitochondrial matrix] [EntityWithAccessionedSequence:R-HSA-189438] ALAS1 [mitochondrial matrix]
(referenceSequence)	[ModifiedResidue:1022084] N6-pyridoxal phosphate-L-lysine at unknown position
(interactor)	[UndirectedInteraction:11222183] UniProt:P13196 <-> UniProt:Q9NZQ9 (IntAct) [UndirectedInteraction:11222181] UniProt:P13196 <-> UniProt:Q5BKU9 (IntAct) [UndirectedInteraction:11222179] UniProt:P13196 <-> UniProt:O75380 (IntAct) [UndirectedInteraction:11222177] UniProt:P13196 <-> UniProt:Q5T1C6 (IntAct) [UndirectedInteraction:11222175] UniProt:P13196 <-> UniProt:Q9NYL9 (IntAct) [UndirectedInteraction:11222173] UniProt:P13196 <-> UniProt:Q8IVS2 (IntAct) [UndirectedInteraction:11222171] UniProt:P13196 <-> IntAct:EBI-10198008 (IntAct) [UndirectedInteraction:11222169] UniProt:P13196 <-> IntAct:EBI-10197995 (IntAct) [UndirectedInteraction:11222165] UniProt:P13196 <-> UniProt:Q5W5X9 (IntAct) [UndirectedInteraction:11222163] UniProt:P13196 <-> UniProt:Q15560 (IntAct) [UndirectedInteraction:11222161] UniProt:P13196 <-> UniProt:Q8TD31-3 (IntAct) [UndirectedInteraction:11222159] UniProt:P13196 <-> UniProt:Q7Z614 (IntAct) [UndirectedInteraction:11222157] UniProt:P13196 <-> UniProt:P53829 (IntAct) [UndirectedInteraction:11222155] UniProt:P13196 <-> UniProt:A8MXD5 (IntAct) [UndirectedInteraction:11222153] UniProt:P13196 <-> UniProt:Q9NWW7 (IntAct) [UndirectedInteraction:11222149] UniProt:P13196 <-> UniProt:C9JCN9 (IntAct) [UndirectedInteraction:11222145] UniProt:P13196 <-> UniProt:Q9UMF0 (IntAct) [UndirectedInteraction:11222143] UniProt:P13196 <-> UniProt:P08579 (IntAct) [UndirectedInteraction:11222141] UniProt:P13196 <-> UniProt:O75564-2 (IntAct) [UndirectedInteraction:11222139] UniProt:P13196 <-> UniProt:P48837 (IntAct) [UndirectedInteraction:11149845] UniProt:Q16822 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11175079] UniProt:Q96L91 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11177399] UniProt:Q8TCT0 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11180803] UniProt:P14324 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11190303] UniProt:Q9HAQ2 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11222049] UniProt:P13196 <-> UniProt:Q8WTR2 (IntAct) [UndirectedInteraction:11222051] UniProt:P13196 <-> UniProt:Q6P1J9 (IntAct) [UndirectedInteraction:11222053] UniProt:P13196 <-> UniProt:Q9Y473 (IntAct) [UndirectedInteraction:11222055] UniProt:P13196 <-> UniProt:Q8WW24 (IntAct) [UndirectedInteraction:11222057] UniProt:P13196 <-> UniProt:Q8TBZ8 (IntAct) [UndirectedInteraction:11222061] UniProt:P13196 <-> UniProt:Q17RB0 (IntAct) [UndirectedInteraction:11222063] UniProt:P13196 <-> UniProt:Q17RB8 (IntAct) [UndirectedInteraction:11222067] UniProt:P13196 <-> UniProt:P63313 (IntAct) [UndirectedInteraction:11222069] UniProt:P13196 <-> UniProt:O60437 (IntAct) [UndirectedInteraction:11222071] UniProt:P13196 <-> UniProt:Q6PF15 (IntAct) [UndirectedInteraction:11222073] UniProt:P13196 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11222073] UniProt:P13196 <-> UniProt:P13196 (IntAct) [UndirectedInteraction:11222077] UniProt:P13196 <-> UniProt:Q9Y2S7 (IntAct) [UndirectedInteraction:11222079] UniProt:P13196 <-> UniProt:Q9BVS5 (IntAct) [UndirectedInteraction:11222081] UniProt:P13196 <-> UniProt:Q0P5Q0 (IntAct) [UndirectedInteraction:11222083] UniProt:P13196 <-> IntAct:EBI-22620261 (IntAct) [UndirectedInteraction:11222085] UniProt:P13196 <-> UniProt:A0A0A0MR80 (IntAct) [UndirectedInteraction:11222089] UniProt:P13196 <-> UniProt:Q96CN5 (IntAct) [UndirectedInteraction:11222091] UniProt:P13196 <-> UniProt:Q9H788 (IntAct) [UndirectedInteraction:11222093] UniProt:P13196 <-> UniProt:Q4VC05 (IntAct) [UndirectedInteraction:11222097] UniProt:P13196 <-> UniProt:O75128 (IntAct) [UndirectedInteraction:11222101] UniProt:P13196 <-> IntAct:EBI-10198019 (IntAct) [UndirectedInteraction:11222105] UniProt:P13196 <-> UniProt:Q765P7 (IntAct) [UndirectedInteraction:11222107] UniProt:P13196 <-> UniProt:O43516 (IntAct) [UndirectedInteraction:11222109] UniProt:P13196 <-> UniProt:Q9Y2K6 (IntAct) [UndirectedInteraction:11222111] UniProt:P13196 <-> UniProt:Q02821 (IntAct) [UndirectedInteraction:11222113] UniProt:P13196 <-> UniProt:Q96CD0 (IntAct) [UndirectedInteraction:11222115] UniProt:P13196 <-> UniProt:P40099 (IntAct) [UndirectedInteraction:11222119] UniProt:P13196 <-> IntAct:EBI-10192162 (IntAct) [UndirectedInteraction:11222121] UniProt:P13196 <-> UniProt:Q6P444 (IntAct) [UndirectedInteraction:11222123] UniProt:P13196 <-> UniProt:Q8IYW5 (IntAct) [UndirectedInteraction:11222125] UniProt:P13196 <-> UniProt:O14645 (IntAct) [UndirectedInteraction:11222127] UniProt:P13196 <-> UniProt:Q5TAP6 (IntAct) [UndirectedInteraction:11222129] UniProt:P13196 <-> UniProt:P32902 (IntAct) [UndirectedInteraction:11222131] UniProt:P13196 <-> UniProt:Q68DK2-5 (IntAct) [UndirectedInteraction:11222133] UniProt:P13196 <-> UniProt:P40123 (IntAct) [UndirectedInteraction:11222135] UniProt:P13196 <-> UniProt:Q9NVN8 (IntAct) [UndirectedInteraction:11222137] UniProt:P13196 <-> UniProt:Q4G0R1 (IntAct)

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