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    Hmbs Hydroxymethylbilane synthase [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 46140, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hmbsprovided by FlyBase
    Official Full Name
    Hydroxymethylbilane synthaseprovided by FlyBase
    Primary source
    FLYBASE:FBgn0010786
    Locus tag
    Dmel_CG9165
    See related
    AllianceGenome:FB:FBgn0010786
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    2640; 3544; anon-WO0153538.70; CG9165; Dmel\CG9165; l(3)02640; l(3)3544; l(3)7E130; l(3)j4E3; Pbgd; PBGD
    Summary
    Predicted to enable hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Is expressed in several structures, including adult head; eye disc; gland; gut section; and nephrocyte. 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 Hmbs in Genome Data Viewer
    Location:
    61F6-61F7; 3-0 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (1334889..1339415)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (1334889..1339415)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase (ubiquinone) acyl carrier protein Neighboring gene uncharacterized protein Neighboring gene mitotic spindle density 1 Neighboring gene mitotic spindle density 5 Neighboring gene indra Neighboring gene Protein tyrosine phosphatase 61F Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Negative regulation of MAP kinase signaling in Drosophila by Ptp61F/PTP1B. Tchankouo-Nguetcheu S, et al. Mol Genet Genomics, 2014 Oct. PMID 24752400
    2. Affecting Rhomboid-3 function causes a dilated heart in adult Drosophila. Yu L, et al. PLoS Genet, 2010 May 27. PMID 20523889, Free PMC Article
    3. Functional genomic analysis of the 61D-61F region of the third chromosome of Drosophila melanogaster. Wei HC, et al. Genome, 2003 Dec. PMID 14663523
    4. Identification and characterization of a heme exporter from the MRP family in Drosophila melanogaster. Wang Z, et al. BMC Biol, 2022 Jun 2. PMID 35655259, Free PMC Article
    5. Robust RT-qPCR data normalization: validation and selection of internal reference genes during post-experimental data analysis. Ling D, et al. PLoS One, 2011 Mar 15. PMID 21423626, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by FlyBase

    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 hydroxymethylbilane synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heme biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in peptidyl-pyrromethane cofactor linkage IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in 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
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    hydroxymethylbilane synthase
    Names
    CG9165-PA
    Hmbs-PA
    lethal (3) 02640
    porphobilinogen deaminase
    NP_612103.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_037436.4 Reference assembly

      Range
      1334889..1339415
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_138259.3 → NP_612103.1  hydroxymethylbilane synthase [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_612103.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q8IH53, Q9W0G4
      Related
      FBpp0072572
      Conserved Domains (2) summary
      PRK00072
      Location:6 → 289
      hemC; porphobilinogen deaminase; Reviewed
      cd13645
      Location:7 → 296
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IH53 Q8IH53
    Q8T0V4 Q8T0V4
    Q9W0G4 Q9W0G4

    Gene LinkOut

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