Center for Bioinformatics
Oxidoreductases | Transferases | Hydrolases | Lyases | Isomerases | Ligases

Basic Information

Enzyme Number

2.3.1.37

Official Name

5-aminolevulinate synthase

Name from literature

5-aminolevulinate synthase

Pathway from literature

hepatic heme biosynthesis

Pathway from KEGG

Amino Acid Metabolism; Glycine, serine and threonine metabolism; map00260

Metabolism of Cofactors and Vitamins; Porphyrin and chlorophyll metabolism; map00860

Organisms

Human (9606)

Genome localization

Xp11.21[212 ], 3p21.1[211 ],

Comments

A pyridoxal-phosphate protein. The enzyme in erythrocytes is genetically distinct from that in other tissues.

Rate-limiting Description

"mutations in the UPGD gene and in the HFE gene affected in haemochromatosis, as well as genetically steered inducibilities of the genes programming for CYP4501A and the rate-limiting enzyme in haem synthesis, 5-aminolevulinate synthase." (11202050)

"While ALAS induction is necessary for increased heme synthesis, these data indicate that other enzymes, in particular coproporphyrinogen oxidase, represent down-stream rate-limiting steps." (11368326)

Regulatory Information

Upstream transcription factor

3725;6927;1387

Regulatory type

Detail

key enzyme;

"Our results show that EPO directly affected haem biosynthesis by stimulating the transcriptional and post-transcriptional expression of the key enzyme e-ALAS." (12139757)

post translational modification;

"Our results show that EPO directly affected haem biosynthesis by stimulating the transcriptional and post-transcriptional expression of the key enzyme e-ALAS." (12139757)

transcriptional factor;AP-1(3725),CREBP(1387)

"ALAS expression is regulated by AP-1 complex through sequestration of cAMP-response element protein (CRE)-binding protein (CBP) coactivator in human cells" (12433930)

transcriptional factor;Hepatic nuclear factor 3 and nuclear factor 1(6927)

"ALAS gene expression is regulated by Hepatic nuclear factor 3 and nuclear factor 1" (15123725)

phosphorylation;

P13196

Gene ontology

Gene ontology

GO:0001666 (P) response to hypoxia [P22557 ];
GO:0032364 (P) oxygen homeostasis [P22557 ];
GO:0006783 (P) heme biosynthetic process [P13196, P22557 ];
GO:0016769 (F) transferase activity, transferring nitrogen... [P13196, P22557 ];
GO:0003870 (F) 5-aminolevulinate synthase activity [P13196, P22557 ];
GO:0030170 (F) pyridoxal phosphate binding [P13196, P22557 ];
GO:0005759 (C) mitochondrial matrix [P13196, P22557 ];
GO:0030218 (P) erythrocyte differentiation [P22557 ];
GO:0005515 (F) protein binding [P22557 ];
GO:0005743 (C) mitochondrial inner membrane [P22557 ];
GO:0042541 (P) hemoglobin biosynthetic process [P22557 ];

Tissue expression

Tissue From HPRD

Hematopoietic stem cell [02356 ];
Bone marrow [02356 ];
Liver [00505 ];
Proerythroblast [00505 ];
Brain [00505 ];

Tissue specificity

Erythroid specific [P22557 ];

Subcellular localization

Localization

mitochondrion [P13196, P22557 ];

Disease relevance

Disease

Defects in ALAS2 are a cause of X-linked sideroblastic anemia (XLSA) [MIM:301300]. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, progressive accumulation of iron, and the presence of ringed sideroblasts in the bone marrow [P22557 ];

Links

SwissProt

P13196; P22557

Entrez Gene

211; 212

HPRD

00505; 02356



  Copyright 2009, Center for Bioinformatics 
  Last Modified: 2009-03-24  
  Design by Zhao Min