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Hmbs
Gene Detail
 Symbol
Name
ID
Hmbs
hydroxymethylbilane synthase
MGI:96112
Synonyms PBGD, porphobilinogen deaminase, Ups, Uros1
Feature Type protein coding gene
Genetic Map
Chromosome 9
24.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr9:44336350-44344228 bp, - strand
From Ensembl annotation of GRCm38

  7879 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:158  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: porphobilinogen deaminase
Gene Tree: Hmbs

Human
homologs
Human Homolog HMBS, hydroxymethylbilane synthase
NCBI Gene ID 3145
neXtProt AC  NX_P08397
Human Synonyms  PBGD, PBG-D, PORC, UPS
Human Chr (Location)  11q23.3; chr11:119084877-119093549 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human HMBS
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Chemically induced (ENU)(1) Gene trapped(4) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null (T3) or a severe hypomorphic (T2) allele exhibit prenatal lethality whereas homozygotes for the less severe T1 allele are viable. Compound T1/T2 heterozygotes show abnormal urine homeostasis, porphyria, erythruria, motor deficits, axonal neuropathy, and muscle atrophy.
 
Human Diseases Modeled Using Mouse Hmbs (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Hmbs interacts with 73 markers (Mir1a-1, Mir1a-2, Mir27a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process heme biosynthetic process, peptidyl-pyrromethane cofactor linkage, ...
Component axon, condensed chromosome, ...
Function amine binding, carboxylic acid binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (114)    Tissues (95)    Images (28)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 114
cDNA source data(116)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(120) Genomic(3) cDNA(117)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000032126 (Evidence)
Entrez Gene15288 (Evidence)
UniGene247676
DFCITC1572555, TC1775285, TC1779478
DoTSDT.101230826, DT.101355588, DT.536411, DT.94407942, DT.94407960
NIA Mouse Gene IndexU030768, U132844
EC2.5.1.61
Consensus CDS ProjectCCDS23106.1, CCDS52779.1
International Mouse Knockout Project StatusHmbs
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000032126 Ensembl Gene Model | MGI Sequence Detail 7879 C57BL/6J ±  kb
transcript ENSMUST00000077353 Ensembl | MGI Sequence Detail 1594 Not Applicable 
polypeptide ENSMUSP00000076575 Ensembl | MGI Sequence Detail 361 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(4) UniProt(4)
Polymorphisms SNPs within 2kb(91 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR022418 Porphobilinogen deaminase, C-terminal
InterPro IPR022419 Porphobilinogen deaminase, dipyrromethane cofactor binding site
InterPro IPR022417 Porphobilinogen deaminase, N-terminal
InterPro IPR000860 Tetrapyrrole biosynthesis, hydroxymethylbilane synthase
Protein Ontology PR:000008623 porphobilinogen deaminase
References (Earliest) J:6346 Meisler MH, et al., Rare structural variants of human and murine uroporphyrinogen I synthase. Proc Natl Acad Sci U S A. 1980 May;77(5):2848-52
(Latest) J:198534 Unzu C, et al., Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice. Hum Mol Genet. 2013 Jul 15;22(14):2929-40
All references(60)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-10747, MGD-MRK-15370, MGD-MRK-15373, MGI:2143452

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/02/2014
MGI 5.19
The Jackson Laboratory