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FLASH GENE
Symbol HMBS contributors: mct - updated : 15-11-2023
HGNC name hydroxymethylbilane synthase
HGNC id 4982
DNA
TYPE functioning gene
STRUCTURE 8.67 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - D11S386 - D11S351 - D11S144 - D11S29 - APOA1 - HMBS - H2AFX - D11S350 ,THY1 - D11S147 - D11S34 - qter
Authors Eubanks (92), Ivanova (94)
Text see BALMCR
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 polyA site 1411 40 344 erythrocytic 2022 34523126
14 - 1505 42 361 non erythroid cells N terminal 17 residues 2022 34523126
13 - 1476 - 304 - 2022 34523126
13 - 1385 - 321 - 2022 34523126
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveliver   highly
Reproductivemale systemprostate  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
not specificadipocyte Homo sapiens
cell lineage erythroid cells
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
porphobilinogen deaminase, dipyromethane cofactor binding domain
HOMOLOGY
interspecies homolog to murine Hmbs
Homologene
FAMILY HMBS family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • catalyzing the the head-to-tail polymerisation of 4 molecules of porphobilinogen to assemble the open chain tetrapyrrole, hydroxymethylbilane
  • third step of porphyrin biosynthesis
  • HMBS increased during differentiation of human adipocytes in parallel to adipogenic genes
  • catalyses the stepwise addition of four molecules of porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    heme biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACIP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria