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FLASH GENE
Symbol ALAS2 contributors: mct - updated : 09-07-2012
HGNC name aminolevulinate, delta-, synthase 2
HGNC id 397
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
    Physical map
    SMC1L1 Xp11.22-p11.21 SMC1 structural maintenance of chromosomes 1-like 1 (yeast) FLJ32783 Xp11.23 hypothetical protein FLJ32783 HADH2 Xp11.2 hydroxyacyl-Coenzyme A dehydrogenase, type II UREB1 Xp11.23-p11.21 hydroxyacyl-Coenzyme A dehydrogenase, type II LOC389859 X similar to 28S ribosomal protein S18c, mitochondrial precursor (MRP-S18-c) (Mrps18c) (MRP-S18-1) (CGI-134) KIAA1111 Xp11.22 Homo sapiens KIAA1111 protein (KIAA1111), mRNA. FLJ20506 Xp11.22 hypothetical protein FLJ20506 PRKWNK3 Xp11.23-p11.21 protein kinase, lysine deficient 3 DT1P1A10 Xp11.22 hypothetical protein DT1P1A10 FGD1 Xp11.21 faciogenital dysplasia (Aarskog-Scott syndrome) FLJ10613 Xp11.22 hypothetical protein FLJ10613 LOC392473 X similar to dJ834A16.1 (similar to PGAM) UNQ6369 Xp11.22 ITI-like protein MAGED2 Xp11.2 melanoma antigen, family D, 2 TRO Xp11.22-p11.21 trophinin PFKFB1 Xp11.21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 APEX2 Xp11.22 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 ALAS2 Xp11.21 aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) LOC389860 X similar to PAGE-5 protein LOC203569 Xp11.22 similar to PAGE-5 protein LOC90736 Xp11.22 hypothetical protein BC000919 PAGE-5 Xp11.22 PAGE-5 protein LOC139793 Xp11.22 similar to XAGE-5 protein MAGEH1 Xp11.22 APR-1 protein LOC158880 LOC392474 X similar to hypothetical protein MGC21658 Xp11.22 similar to Forkhead box protein N4 LOC392475 X similar to XAGE-5 protein RRAGB Xp11.21 Ras-related GTP binding B LOC392476 X similar to Got2-prov protein KLF8 Xp11.21 Kruppel-like factor 8 UBQLN2 Xp11.23-p11.1 ubiquilin 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2044 64 587 - 2004 14643893
    - splicing 1933 - 550 - 2004 14643893
    lacks an in-frame segment of the coding region
    11 splicing 2040 - 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)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiensAdult
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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