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    alas2 aminolevulinate, delta-, synthase 2 [ Danio rerio (zebrafish) ]

    Gene ID: 64607, updated on 12-Jan-2025

    Summary

    Official Symbol
    alas2provided by ZNC
    Official Full Name
    aminolevulinate, delta-, synthase 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-001229-1
    See related
    Ensembl:ENSDARG00000038643 AllianceGenome:ZFIN:ZDB-GENE-001229-1
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    sau; alas-e; cb1063; sauternes; si:dkey-24f17.4
    Summary
    Predicted to enable 5-aminolevulinate synthase activity. Acts upstream of or within heme biosynthetic process; hemoglobin biosynthetic process; and hemopoiesis. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. Is expressed in erythroid progenitor cell; hematopoietic system; mesoderm; and renal system. Used to study sideroblastic 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, Jan 2025]
    Orthologs
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    Genomic context

    See alas2 in Genome Data Viewer
    Location:
    chromosome: 8
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 8 NC_007119.7 (21353940..21369028)
    105 previous assembly GRCz10 (GCF_000002035.5) 8 NC_007119.6 (21321855..21336943)

    Chromosome 8 - NC_007119.7Genomic Context describing neighboring genes Neighboring gene cryptochrome circadian regulator 3a Neighboring gene inositol 1,4,5-trisphosphate receptor, type 3 Neighboring gene G protein-coupled receptor 37 like 1b Neighboring gene elastase 2 like Neighboring gene elastase 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables 5-aminolevulinate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 5-aminolevulinate synthase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables 5-aminolevulinate synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in erythrocyte development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within erythrocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    acts_upstream_of_or_within heme biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within heme biosynthetic process IMP
    Inferred from Mutant Phenotype
    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
     
    acts_upstream_of_or_within hemoglobin biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hemoglobin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within hemoglobin metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within hemoglobin metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within porphyrin-containing compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within tetrapyrrole biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    5-aminolevulinate synthase, erythroid-specific, mitochondrial
    Names
    5-aminolevulinate synthase 2
    5-aminolevulinic acid synthase 2
    aminolevulinate, delta-, synthetase 2
    delta-ALA synthase 2
    delta-ALA synthetase
    delta-aminolevulinate synthase 2
    NP_571757.1

    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_131682.2NP_571757.1  5-aminolevulinate synthase, erythroid-specific, mitochondrial

      See identical proteins and their annotated locations for NP_571757.1

      Status: PROVISIONAL

      Source sequence(s)
      BC056338
      UniProtKB/Swiss-Prot
      Q6NXC5, Q9YHT4
      Related
      ENSDARP00000056419.3, ENSDART00000056420.4
      Conserved Domains (3) summary
      COG0156
      Location:138535
      BioF; 7-keto-8-aminopelargonate synthetase or related enzyme [Coenzyme transport and metabolism]
      pfam09029
      Location:398
      Preseq_ALAS; 5-aminolevulinate synthase presequence
      cl18945
      Location:138542
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007119.7 Reference GRCz11 Primary Assembly

      Range
      21353940..21369028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018394721.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      104616..119927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)