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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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