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Tclin
ALAS1
5-aminolevulinate synthase, nonspecific, mitochondrial

Protein Classes
Protein Summary
Description
This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000310271
  • ENSP00000309259
  • ENSG00000023330
  • ENST00000394965
  • ENSP00000378416
  • ENST00000469224
  • ENSP00000417719
  • ENST00000484952
  • ENSP00000418779

Symbol
  • ALAS3
  • ALASH
  • ALAS
  • MIG4
  • ALAS3
  • ALASH
  • ALAS-H
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
1
kinase perturbation
1
protein domain
0.92
histone modification site profile
0.84
gene perturbation
0.69


Related Tools
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
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: 103.91   (req: < 5)
Gene RIFs: 21   (req: <= 3)
Antibodies: 249   (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: 103.91   (req: >= 5)
Gene RIFs: 21   (req: > 3)
Antibodies: 249   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
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: 1
Approved Drugs (1)
1 – 1 of 1
givosiran
no chemical structure image available
GWAS Traits (19)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist circumference
2
5
6
87.7
triglyceride measurement
2
3
3
86.7
waist-hip ratio
2
3
4
84.2
BMI-adjusted waist-hip ratio
3
3
4
83.2
waist circumference
1
3
3
78.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
BMI-adjusted waist circumference
6
87.7
triglyceride measurement
3
86.7
waist-hip ratio
4
84.2
BMI-adjusted waist-hip ratio
4
83.2
waist circumference
3
78.7
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
5'-aminolevulinate synthase 1
VGNC:1728
460416
Macaque
5'-aminolevulinate synthase 1
698093
Mouse
MGI:87989
11655
Rat
RGD:68392
65155
Dog
5'-aminolevulinate synthase 1
VGNC:37776
476600
Species
Name
OMA
EggNOG
Inparanoid
Chimp
5'-aminolevulinate synthase 1
Macaque
5'-aminolevulinate synthase 1
Mouse
Rat
Dog
5'-aminolevulinate synthase 1
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P13196-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (39)
Heme biosynthesis (R-HSA-189451)

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

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Heme biosynthesis
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
Metabolism of porphyrins
Reactome
Mitochondrial biogenesis
Name
Explore in Pharos
Explore in Source
Heme biosynthesis
Metabolism
Metabolism of lipids
Metabolism of porphyrins
Mitochondrial biogenesis
Protein-Protein Interactions (107)
1 – 10 of 107
RCHY1
Tbio
Novelty:  0.01853663
p_int:  0.999995947
p_ni:  0.000004053
Score:  0.345
Data Source:  BioPlex,STRINGDB
TMOD3
Tbio
Novelty:  0.04744699
p_int:  0.999994571
p_ni:  0.000005426
p_wrong:  3e-9
Data Source:  BioPlex
DUSP19
Tbio
Family:  Enzyme
Novelty:  0.13289846
p_int:  0.999985611
p_ni:  0.000014389
Score:  0.288
Data Source:  BioPlex,STRINGDB
THEM4
Tbio
Family:  Enzyme
Novelty:  0.0191855
p_int:  0.99996952
p_ni:  0.00003048
Score:  0.186
Data Source:  BioPlex,STRINGDB
OXLD1
Tdark
Family:  Enzyme
Novelty:  23
p_int:  0.999961013
p_ni:  0.000038679
p_wrong:  3.08e-7
Data Source:  BioPlex
MCAT
Tbio
Family:  Enzyme
Novelty:  0.00600508
p_int:  0.999870647
p_ni:  0.000129353
Score:  0.301
Data Source:  BioPlex,STRINGDB
HINT2
Tbio
Novelty:  0.09560851
p_int:  0.999116651
p_ni:  0.000880673
p_wrong:  0.000002676
Data Source:  BioPlex
TMOD4
Tbio
Novelty:  0.00932697
p_int:  0.996324839
p_ni:  0.003675147
p_wrong:  1.4e-8
Score:  0.159
Data Source:  BioPlex,STRINGDB
ECHDC2
Tdark
Family:  Enzyme
Novelty:  0.50396935
p_int:  0.990057531
p_ni:  0.00974913
p_wrong:  0.000193339
Score:  0.616
Data Source:  BioPlex,STRINGDB
PDP1
Tbio
Family:  Enzyme
Novelty:  0.00442352
p_int:  0.989109532
p_ni:  0.009879864
p_wrong:  0.001010604
Data Source:  BioPlex
Publication Statistics
PubMed Score  103.91

PubMed score by year
PubTator Score  332.58

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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