Names & Taxonomy

Uniprot ID:
P22557
Entry Name:
HEM0_HUMAN
Status:
reviewed
Protein Names:
5-aminolevulinate synthase, erythroid-specific, mitochondrial (ALAS-E) (EC 2.3.1.37) (5-aminolevulinic acid synthase 2) (Delta-ALA synthase 2) (Delta-aminolevulinate synthase 2)
Gene Names:
ALAS2 ALASE ASB
Gene Names Primary:
ALAS2
Organism:
Homo sapiens (Human)

Structure

Length:
587
Sequence:
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Mitochondrion matrix

Function

Pathway:
Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
Catalytic Activity:
Succinyl-CoA + glycine = 5-aminolevulinate + CoA + CO(2).
Cofactor:
COFACTOR: Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
Active Site:
ACT_SITE 391 391
Cross Reference Drug Bank:
DB00145
Gene Ontology Go:
mitochondrial inner membrane
mitochondrial matrix
mitochondrion
5-aminolevulinate synthase activity
coenzyme binding
glycine binding
pyridoxal phosphate binding
cellular iron ion homeostasis
erythrocyte differentiation
heme biosynthetic process
hemoglobin biosynthetic process
oxygen homeostasis
porphyrin-containing compound metabolic process
protoporphyrinogen IX biosynthetic process
response to hypoxia
small molecule metabolic process
Gene Ontology Biological Process:
cellular iron ion homeostasis
erythrocyte differentiation
heme biosynthetic process
hemoglobin biosynthetic process
oxygen homeostasis
porphyrin-containing compound metabolic process
protoporphyrinogen IX biosynthetic process
response to hypoxia
small molecule metabolic process
Gene Ontology Molecular Function:
5-aminolevulinate synthase activity
coenzyme binding
glycine binding
pyridoxal phosphate binding
Gene Ontology Cellular Component:
mitochondrial inner membrane
mitochondrial matrix
mitochondrion
Keywords:
Acyltransferase
Alternative splicing
Complete proteome
Disease mutation
Heme biosynthesis
Mitochondrion
Pyridoxal phosphate
Reference proteome
Transferase
Transit peptide
Interacts With:
Q8N9N5

Publication

PubMed ID:
2263504 2050125 9642238 14702039 15772651 15489334 14643893 8107717 1570328 9858242 10577279 10029606 12393718 12031592 18760763 19731322 21252495 21653323 21309041