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Hmbs Gene Detail
Summary
  • Symbol
    Hmbs
  • Name
    hydroxymethylbilane synthase
  • Synonyms
    PBGD, porphobilinogen deaminase, Ups, Uros1
  • Feature Type
    protein coding gene
  • IDs
    MGI:96112
    NCBI Gene: 15288
  • Gene Overview
    MyGene.info: HMBS
Location & Maps
more
  • Sequence Map
    Chr9:44336350-44344228 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7879 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 24.84 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    HMBS, hydroxymethylbilane synthase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    HMBS, hydroxymethylbilane synthase
    Orthology source: HomoloGene
  • Synonyms
    PBGD, PBG-D, PORC, UPS
  • Links
    NCBI Gene ID: 3145
    neXtProt AC: NX_P08397

  • Chr Location
    11q23.3; chr11:119084876-119093549 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Hmbs mouse models; 1 with human HMBS associations

Human Disease Mouse Models
       Porphyria, Acute Intermittent; AIP   OMIM: 176000 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 4 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Gene trapped
    4
  • Targeted
    6
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    91 from dbSNP Build 142
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000008623 porphobilinogen deaminase
  • EC
  • InterPro Domains
    IPR000860 Porphobilinogen deaminase
    IPR022418 Porphobilinogen deaminase, C-terminal
    IPR022419 Porphobilinogen deaminase, dipyrromethane cofactor binding site
    IPR022417 Porphobilinogen deaminase, N-terminal
Molecular
Reagents
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  • All nucleic 120
    Genomic 3
    cDNA 117

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-10747, MGD-MRK-15370, MGD-MRK-15373, MGI:2143452
References
more
  • Summaries
    All 58
    Developmental Gene Expression 13
    Diseases 2
    Gene Ontology 4
    Phenotypes 12
  • 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:231443 Collantes M, et al., Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency. Hum Mol Genet. 2016 Apr 1;25(7):1318-27

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory