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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:44247645-44255525 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 24.84 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    92 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96112
 protein coding gene Chr9:44247636-44255525 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034703
 protein coding gene Chr9:42820768-42830904 (-)
A/J MGP_AJ_G0034684
 protein coding gene Chr9:41631597-41639382 (-)
AKR/J MGP_AKRJ_G0034610
 protein coding gene Chr9:42489742-42498237 (-)
BALB/cJ MGP_BALBcJ_G0034675
 protein coding gene Chr9:41378452-41386127 (-)
C3H/HeJ MGP_C3HHeJ_G0034386
 protein coding gene Chr9:42948639-42957904 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035196
 protein coding gene Chr9:44093548-44102685 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032111
 protein coding gene Chr9:41209127-41217231 (-)
CAST/EiJ MGP_CASTEiJ_G0033708
 protein coding gene Chr9:42790599-42799895 (-)
CBA/J MGP_CBAJ_G0034358
 protein coding gene Chr9:45697993-45705365 (-)
DBA/2J MGP_DBA2J_G0034517
 protein coding gene Chr9:41532716-41542136 (-)
FVB/NJ MGP_FVBNJ_G0034458
 protein coding gene Chr9:40786188-40796521 (-)
LP/J MGP_LPJ_G0034598
 protein coding gene Chr9:43119647-43129143 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034502
 protein coding gene Chr9:47540910-47550368 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035217
 protein coding gene Chr9:42389513-42399828 (-)
PWK/PhJ MGP_PWKPhJ_G0033414
 protein coding gene Chr9:41403552-41411548 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033248
 protein coding gene Chr9:42709945-42718977 (-)
WSB/EiJ MGP_WSBEiJ_G0033821
 protein coding gene Chr9:42429764-42439877 (-)



Homology
more
  • Human Ortholog
    HMBS, hydroxymethylbilane synthase
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HMBS, hydroxymethylbilane synthase
  • Synonyms
    ENCEP, LENCEP, PBGD, PBG-D, PORC, UPS
  • Links
    NCBI Gene ID: 3145
    neXtProt AC: NX_P08397
    UniProt: P08397

  • Chr Location
    11q23.3; chr11:119084866-119093834 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hmbs mouse models; 2 with human HMBS associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 6 alleles in 6 genetic backgrounds
    17 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.
Mice heterozygous for one null allele and a functional allele with a milder mutation exhibit typical features of acute intermittent porphyria with massive urinary excretion of aminolevulinic acid after phenobarbital treatment, erythruria, ataxia, motor dysfunction, and neurologic muscle atrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    876
  • Tissues
    138
  • cDNA Data
    117
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 15288 NCBI Gene Model | MGI Sequence Detail 7881 C57BL/6J ±  kb
    transcript NM_013551 RefSeq | MGI Sequence Detail 1611 ZRU/MplStud  
    polypeptide P22907 UniProt | EBI | MGI Sequence Detail 361 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 124
      Genomic 3
      cDNA 118
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10747, MGD-MRK-15370, MGD-MRK-15373, MGI:2143452
    References
    more
    • Summaries
      All 67
      Developmental Gene Expression 15
      Diseases 2
      Gene Ontology 6
      Phenotypes 17
    • 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:339711 Longo M, et al., Nutritional Interventions with Bacillus coagulans Improved Glucose Metabolism and Hyperinsulinemia in Mice with Acute Intermittent Porphyria. Int J Mol Sci. 2023 Jul 26;24(15)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory