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Tbio
ALAS2
5-aminolevulinate synthase, erythroid-specific, mitochondrial

Protein Classes
Protein Summary
Description
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000330807
  • ENSP00000332369
  • ENSG00000158578
  • ENST00000335854
  • ENSP00000337131
  • ENST00000396198
  • ENSP00000379501
  • ENST00000650242
  • ENSP00000497236

Symbol
  • ALASE
  • ASB
  • ASB
  • ANH1
  • XLSA
  • ALASE
  • XLDPP
  • XLEPP
  • ALAS-E
  • SIDBA1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
0.92
molecular function
0.81
cell type or tissue
0.75
cellular component
0.71
disease
0.7


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 164.08   (req: < 5)
Gene RIFs: 36   (req: <= 3)
Antibodies: 285   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 164.08   (req: >= 5)
Gene RIFs: 36   (req: > 3)
Antibodies: 285   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Pathways (11)
Heme biosynthesis (R-HSA-189451)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Heme biosynthesis
Reactome
Metabolism
Reactome
Metabolism of porphyrins
Name
Explore in Pharos
Explore in Source
Heme biosynthesis
Metabolism
Metabolism of porphyrins
Protein-Protein Interactions (119)
1 – 10 of 119
ALAD
Tbio
Family: Enzyme
Novelty: 0.00093006
Score: 0.979
Data Source: STRINGDB
AHSP
Tbio
Novelty: 0.00903598
Score: 0.92
Data Source: STRINGDB
SHMT2
Tbio
Family: Enzyme
Novelty: 0.00406219
Score: 0.918
Data Source: STRINGDB
EPB42
Tbio
Family: Enzyme
Novelty: 0.09881965
Score: 0.918
Data Source: STRINGDB
DAO
Tchem
Family: Enzyme
Novelty: 0.00368338
Score: 0.917
Data Source: STRINGDB
SHMT1
Tbio
Family: Enzyme
Novelty: 0.00263085
Score: 0.916
Data Source: STRINGDB
FECH
Tbio
Family: Enzyme
Novelty: 0.00199177
Score: 0.916
Data Source: STRINGDB
GATA1
Tbio
Family: TF
Novelty: 0.0009412
Score: 0.915
Data Source: STRINGDB
GLDC
Tbio
Family: Enzyme
Novelty: 0.01431753
Score: 0.915
Data Source: STRINGDB
AGXT2
Tbio
Family: Enzyme
Novelty: 0.01648041
Score: 0.913
Data Source: STRINGDB
Publication Statistics
PubMed Score  164.08

PubMed score by year
PubTator Score  145.24

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPSWAKGHC
1-70
PFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGN
70-140
YVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQ
140-210
ATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYS
210-280
DAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQY
280-350
GALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFT
350-420
TSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLC
420-490
DLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRR
490-560
PVHFELMSEWERSYFGNMGPQYVTTYA
560-587
MVTAAMLLQCCPVLARGPTSLLGKVVKTHQFLFGIGRCPILATQGPNCSQIHLKATKAGGDSPSWAKGHCPFMLSELQDGKSKIVQKAAPEVQEDVKAFKTDLPSSLVSVSLRKPFSGPQEQEQISGKVTHLIQNNMPGNYVFSYDQFFRDKIMEKKQDHTYRVFKTVNRWADAYPFAQHFSEASVASKDVSVWCSNDYLGMSRHPQVLQATQETLQRHGAGAGGTRNISGTSKFHVELEQELAELHQKDSALLFSSCFVANDSTLFTLAKILPGCEIYSDAGNHASMIQGIRNSGAAKFVFRHNDPDHLKKLLEKSNPKIPKIVAFETVHSMDGAICPLEELCDVSHQYGALTFVDEVHAVGLYGSRGAGIGERDGIMHKIDIISGTLGKAFGCVGGYIASTRDLVDMVRSYAAGFIFTTSLPPMVLSGALESVRLLKGEEGQALRRAHQRNVKHMRQLLMDRGLPVIPCPSHIIPIRVGNAALNSKLCDLLLSKHGIYVQAINYPTVPRGEELLRLAPSPHHSPQMMEDFVEKLLLAWTAVGLPLQDVSVAACNFCRRPVHFELMSEWERSYFGNMGPQYVTTYA