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    hmbsa hydroxymethylbilane synthase a [ Danio rerio (zebrafish) ]

    Gene ID: 394129, updated on 9-Dec-2024

    Summary

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    Official Symbol
    hmbsaprovided by ZNC
    Official Full Name
    hydroxymethylbilane synthase aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1375
    See related
    Ensembl:ENSDARG00000008840 AllianceGenome:ZFIN:ZDB-GENE-040426-1375
    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
    hmbs; zgc:64128
    Summary
    Predicted to enable hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to act upstream of or within peptidyl-pyrromethane cofactor linkage and porphyrin-containing compound biosynthetic process. Predicted to be active in cytoplasm. Is expressed in intermediate mesoderm. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See hmbsa in Genome Data Viewer
    Location:
    chromosome: 5
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 5 NC_007116.7 (30518465..30534426)
    105 previous assembly GRCz10 (GCF_000002035.5) 5 NC_007116.6 (29918282..29934273)

    Chromosome 5 - NC_007116.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology-like domain, family B, member 1a Neighboring gene archain 1a Neighboring gene c2cd2 like Neighboring gene H2A.X variant histone Neighboring gene dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Dose-dependent effects of gamma radiation on the early zebrafish development and gene expression. Hurem S, et al. PLoS One, 2017. PMID 28628668, Free PMC Article
    2. Differential DNA methylation at conserved non-genic elements and evidence for transgenerational inheritance following developmental exposure to mono(2-ethylhexyl) phthalate and 5-azacytidine in zebrafish. Kamstra JH, et al. Epigenetics Chromatin, 2017. PMID 28413451, Free PMC Article
    3. Characterization of a BAC library from channel catfish Ictalurus punctatus: indications of high levels of chromosomal reshuffling among teleost genomes. Wang S, et al. Mar Biotechnol (NY), 2007 Nov-Dec. PMID 17671813
    4. Zebrafish promoter microarrays identify actively transcribed embryonic genes. Wardle FC, et al. Genome Biol, 2006. PMID 16889661, Free PMC Article
    5. Parental exposure to gamma radiation causes progressively altered transcriptomes linked to adverse effects in zebrafish offspring. Hurem S, et al. Environ Pollut, 2018 Mar. PMID 29248853

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC64128

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables hydroxymethylbilane synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydroxymethylbilane synthase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within peptidyl-pyrromethane cofactor linkage IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within porphyrin-containing compound biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within tetrapyrrole biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    hydroxymethylbilane synthase a
    NP_957448.1
    XP_005171873.1

    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_201154.1 → NP_957448.1  hydroxymethylbilane synthase a

      See identical proteins and their annotated locations for NP_957448.1

      Status: PROVISIONAL

      Source sequence(s)
      BC053268
      UniProtKB/TrEMBL
      Q7T336
      Related
      ENSDARP00000023322.5, ENSDART00000013431.6
      Conserved Domains (2) summary
      PRK00072
      Location:15 → 341
      hemC; porphobilinogen deaminase; Reviewed
      cd13645
      Location:18 → 297
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold

    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_007116.7 Reference GRCz11 Primary Assembly

      Range
      30518465..30534426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005171816.5 → XP_005171873.1  hydroxymethylbilane synthase a isoform X1

      UniProtKB/TrEMBL
      A0A0R4IQ55, A0A8M2BJ45
      Related
      ENSDARP00000136190.1, ENSDART00000161836.2
      Conserved Domains (2) summary
      PRK00072
      Location:18 → 344
      hemC; porphobilinogen deaminase; Reviewed
      cd13645
      Location:21 → 300
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold
    Nucleotide Protein
    Heading Accession and Version

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