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    Hmbs hydroxymethylbilane synthase [ Mus musculus (house mouse) ]

    Gene ID: 15288, updated on 2-Nov-2024

    Summary

    Official Symbol
    Hmbsprovided by MGI
    Official Full Name
    hydroxymethylbilane synthaseprovided by MGI
    Primary source
    MGI:MGI:96112
    See related
    Ensembl:ENSMUSG00000032126 AllianceGenome:MGI:96112
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ups; PBGD; Uros1
    Summary
    Enables hydroxymethylbilane synthase activity. Involved in heme A biosynthetic process; heme B biosynthetic process; and heme O biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. 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, Nov 2024]
    Expression
    Biased expression in liver E14.5 (RPKM 396.9), liver E14 (RPKM 377.3) and 7 other tissues See more
    Orthologs
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    Genomic context

    See Hmbs in Genome Data Viewer
    Location:
    9 A5.2; 9 24.84 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (44247645..44255525, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (44336348..44344228, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene C2 calcium-dependent domain containing 2-like Neighboring gene dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Neighboring gene STARR-seq mESC enhancer starr_23963 Neighboring gene H2A.X variant histone Neighboring gene STARR-positive B cell enhancer ABC_E710 Neighboring gene VPS11, CORVET/HOPS core subunit Neighboring gene STARR-positive B cell enhancer ABC_E6726 Neighboring gene predicted gene, 40516

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables amine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables carboxylic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydroxymethylbilane synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hydroxymethylbilane synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hydroxymethylbilane synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables uroporphyrinogen-III synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in heme A biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme B biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heme O biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 liver development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in peptidyl-pyrromethane cofactor linkage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in porphyrin-containing compound biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in porphyrin-containing compound metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protoporphyrinogen IX biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in tetrapyrrole biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in condensed chromosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    porphobilinogen deaminase
    Names
    PBG-D
    pre-uroporphyrinogen synthase
    NP_001103721.1
    NP_038579.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001110251.1NP_001103721.1  porphobilinogen deaminase isoform 2

      See identical proteins and their annotated locations for NP_001103721.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded protein (isoform 2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI853649, AK143558, BB844509
      Consensus CDS
      CCDS52779.1
      UniProtKB/TrEMBL
      Q3UPG1, Q99L41
      Related
      ENSMUSP00000095166.4, ENSMUST00000097558.5
      Conserved Domains (2) summary
      PRK00072
      Location:1327
      hemC; porphobilinogen deaminase; Reviewed
      cd13645
      Location:3282
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold
    2. NM_013551.2NP_038579.2  porphobilinogen deaminase isoform 1

      See identical proteins and their annotated locations for NP_038579.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AI853649, AK151020, AK166734, BY786671
      Consensus CDS
      CCDS23106.1
      UniProtKB/Swiss-Prot
      P22907, Q3TIV0
      UniProtKB/TrEMBL
      Q99L41
      Related
      ENSMUSP00000076575.8, ENSMUST00000077353.15
      Conserved Domains (1) summary
      cd13645
      Location:20299
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      44247645..44255525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)