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Alas2 5'-aminolevulinate synthase 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 25748, updated on 2-Nov-2024

Summary

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Official Symbol
Alas2provided by RGD
Official Full Name
5'-aminolevulinate synthase 2provided by RGD
Primary source
RGD:2084
See related
EnsemblRapid:ENSRNOG00000000167 AllianceGenome:RGD:2084
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary
Enables 5-aminolevulinate synthase activity and coenzyme A binding activity. Involved in several processes, including lactation; liver regeneration; and response to benzene. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Biomarker of anemia; bilirubin metabolic disorder; and hemolytic anemia. Human ortholog(s) of this gene implicated in cutaneous porphyria; erythropoietic protoporphyria; hemochromatosis; sideroblastic anemia; and sideroblastic anemia 1. Orthologous to human ALAS2 (5'-aminolevulinate synthase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in Spleen (RPKM 2452.3), Lung (RPKM 492.2) and 1 other tissue See more
Orthologs
human mouse all
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Genomic context

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See Alas2 in Genome Data Viewer
Location:
Xq12
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (22890650..22914046)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (19463146..19486526)
106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (23167576..23187356, complement)

Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene basic leucine zipper and W2 domains 1, pseudogene 3 Neighboring gene VCP nuclear cofactor family member 2 Neighboring gene apurinic/apyrimidinic endodeoxyribonuclease 2 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 Neighboring gene trophinin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Development of a large-scale chemogenomics database to improve drug candidate selection and to understand mechanisms of chemical toxicity and action. Ganter B, et al. J Biotechnol, 2005 Sep 29. PMID 16005536
  2. Effects of perphenazine, chlorpromazine or CoCl2 on the activities of delta-aminolevulinic acid synthetase and heme oxygenase and on the content of hemoprotein in rat liver. Senda N, et al. Res Commun Chem Pathol Pharmacol, 1989 Jul. PMID 2781150
  3. Effects of chlorinated benzenes of the activities of delta-aminolevulinic acid synthetase and heme oxygenase and on the content of hemoprotein in the liver of rats. Ariyoshi T, et al. J Pharmacobiodyn, 1981 Jan. PMID 6895089
  4. Haem and drug-metabolizing enzymes in regenerating rat liver. Srivastava RC, et al. Br J Exp Pathol, 1982 Feb. PMID 6895999, Free PMC Article
  5. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts. Cotter PD, et al. J Clin Invest, 1995 Oct. PMID 7560104, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables 5-aminolevulinate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 5-aminolevulinate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 5-aminolevulinate synthase activity IEA
Inferred from Electronic Annotation
more info
  
enables 5-aminolevulinate synthase activity ISO
Inferred from Sequence Orthology
more info
  
enables 5-aminolevulinate synthase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables coenzyme A binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in erythrocyte development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in erythrocyte differentiation ISO
Inferred from Sequence Orthology
more info
  
involved_in erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heme biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in heme biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in heme biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hemoglobin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in hemoglobin biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in hemoglobin biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in hemoglobin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular iron ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within intracellular iron ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in lactation IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in liver regeneration IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in maternal process involved in female pregnancy IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in protoporphyrinogen IX biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to benzene IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to cobalt ion IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to fatty acid IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to hypoxia IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
  
involved_in response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to lead ion IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in response to xenobiotic stimulus IEP
Inferred from Expression Pattern
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
5-aminolevulinate synthase, erythroid-specific, mitochondrial
Names
5-aminolevulinic acid synthase 2
ALAS-E
Aminolevulinate synthase 2, delta
aminolevulinate, delta-, synthase 2
aminolevulinic acid synthase 2, erythroid
aminolevulinic acid synthase 2, erythroid-like
delta-ALA synthase 2
delta-ALA synthetase
delta-aminolevulinate synthase 2
erythroid-specific delta-aminolevulinate synthase ALAS-E
NP_037329.1
XP_038955432.1
XP_038955433.1
XP_038955435.1
XP_038955436.1
XP_038955438.1
XP_063135894.1
XP_063135895.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013197.1 → NP_037329.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial

    See identical proteins and their annotated locations for NP_037329.1

    Status: PROVISIONAL

    Source sequence(s)
    D86297
    UniProtKB/Swiss-Prot
    Q63147, Q63895
    Conserved Domains (3) summary
    COG0156
    Location:145 → 544
    BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
    TIGR01821
    Location:143 → 548
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 100
    Preseq_ALAS; 5-aminolevulinate synthase presequence

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

  1. NC_086039.1 Reference GRCr8

    Range
    22890650..22914046
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039099504.2 → XP_038955432.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X1

    Conserved Domains (2) summary
    TIGR01821
    Location:149 → 554
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 100
    Preseq_ALAS; 5-aminolevulinate synthase presequence

  2. XM_039099507.2 → XP_038955435.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q642C1
    Related
    ENSRNOP00000000180.9, ENSRNOT00000000180.9
    Conserved Domains (2) summary
    TIGR01821
    Location:143 → 548
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 100
    Preseq_ALAS; 5-aminolevulinate synthase presequence

  3. XM_039099508.2 → XP_038955436.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X3

    Conserved Domains (2) summary
    TIGR01821
    Location:134 → 539
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 85
    Preseq_ALAS; 5-aminolevulinate synthase presequence

  4. XM_039099510.2 → XP_038955438.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X4

    UniProtKB/TrEMBL
    F1LVW9
    Conserved Domains (2) summary
    TIGR01821
    Location:128 → 533
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 85
    Preseq_ALAS; 5-aminolevulinate synthase presequence

  5. XM_063279825.1 → XP_063135895.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X2

    UniProtKB/TrEMBL
    Q642C1

  6. XM_063279824.1 → XP_063135894.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X1

    Related
    ENSRNOP00000107075.1, ENSRNOT00000132434.1

  7. XM_039099505.2 → XP_038955433.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial isoform X1

    Conserved Domains (2) summary
    TIGR01821
    Location:149 → 554
    5aminolev_synth; 5-aminolevulinic acid synthase
    pfam09029
    Location:5 → 100
    Preseq_ALAS; 5-aminolevulinate synthase presequence
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q63147.1 GenPept UniProtKB/Swiss-Prot:Q63147

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