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    Hmbs hydroxymethylbilane synthase [ Mus musculus (house mouse) ]

    Gene ID: 15288, updated on 31-Jan-2019

    Summary

    Official Symbol
    Hmbsprovided by MGI
    Official Full Name
    hydroxymethylbilane synthaseprovided by MGI
    Primary source
    MGI:MGI:96112
    See related
    Ensembl:ENSMUSG00000032126
    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; T25658
    Expression
    Biased expression in liver E14.5 (RPKM 396.9), liver E14 (RPKM 377.3) and 7 other tissues See more
    Orthologs

    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
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (44336348..44344228, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (44144431..44152311, complement)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene dolichyl-phosphate (UDP-N-acetylglucosamine) acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) Neighboring gene H2A histone family, member X Neighboring gene VPS11, CORVET/HOPS core subunit Neighboring gene predicted gene, 40516

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Chemically induced (ENU) (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    amine binding ISO
    Inferred from Sequence Orthology
    more info
     
    carboxylic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    coenzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydroxymethylbilane synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hydroxymethylbilane synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    uroporphyrinogen-III synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    heme biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-pyrromethane cofactor linkage IEA
    Inferred from Electronic Annotation
    more info
     
    porphyrin-containing compound biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    tetrapyrrole biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    axon ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with condensed chromosome ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus 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)

    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
      Related
      ENSMUSP00000095166.3, ENSMUST00000097558.4
      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
      UniProtKB/TrEMBL
      Q3UBC6
      Related
      ENSMUSP00000076575.7, ENSMUST00000077353.14
      Conserved Domains (2) summary
      PRK00072
      Location:18344
      hemC; porphobilinogen deaminase; Reviewed
      cd13645
      Location:20299
      PBP2_HuPBGD_like; Human porphobilinogen deaminase possess type 2 periplasmic binding protein fold

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      44336348..44344228 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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