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