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FLASH GENE

Symbol

ALAS2

contributors: mct - updated : 09-07-2012

HGNC name	aminolevulinate, delta-, synthase 2
HGNC id	397

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ASB anemia, sideroblastic EPPX protoporphyria, erythroid, X-linked dominant
Location	Xp11.21      Physical location : 55.035.488 - 55.057.497
Synonym name	5 aminolevulinic acid synthase, erythroid specific
	delta-ALA synthetase
	aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)
Synonym symbol(s)	ANH1, HEMO, ALASE, XLSA
EC.number	2.3.1.37

DNA

TYPE	functioning gene
STRUCTURE	22.01 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site
text structure	a transcription factor binding site

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000032 11 - 2044 NP_000023 64 587 - 2004 14643893 NP_001033056 - splicing 1933 NP_001033056 - 550 - 2004 14643893 lacks an in-frame segment of the coding region NM_001037968 11 splicing 2040 NP_001033057 - 574 - 2004 14643893 a distinct 5' coding region and lacks an in-frame portion of the coding region contains a distinct N-terminus

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver         Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Adult

cell lineage	erythroid cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

C-terminal ALAS2 AAs, identifying a region critical for the formation of an ALAS2·succinyl-CoA synthetase (SCS) enzyme complex that presumably is required for normal heme biosynthesis in mitochondria

HOMOLOGY

interspecies

homolog to murine Alas2

Homologene

FAMILY

class II of pyridoxal phosphate dependent aminotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,nucleus
text	appears to be localized to the matrix side of the inner mitochondrial membrane in erythroid cells

basic FUNCTION	aminolevulinate, delta-,synthase 2, catalyzing the first step of porphyrin biosynthesis
	probable role of an ALAS2-succinyl-CoA synthetase complex in the regulation of erythroid heme biosynthesis
	rate-limiting enzyme for erythroid heme biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

porphyrin/heme

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	pyridoxal phosphate

protein

unique interaction of SUCLA2 with ALAS2 is involved in an important erythroid-specific function

cell & other

REGULATION

induced by	TGF-beta1, which may contribute to terminal differentiation of erythroid cells

ASSOCIATED DISORDERS

corresponding disease(s)

ASB , EPPX

related resource

MITOP database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     gain of function ALAS2 gain-of-function mutation contributes to the CEP (congenital erythropoietic porphyria) phenotype underscores the importance of modifier genes underlying CEP

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS