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FLASH GENE
Symbol HMBS contributors: - updated : 13-11-2006
HGNC name hydroxymethylbilane synthase
HGNC id 4982
Corresponding disease
ACIP porphyria, acute, intermittent
Location 11q23.3      Physical location : 118.955.586 - 118.964.259
Synonym name
  • porphobilinogen deaminase
  • uroporphyrinogen I synthase
    • Synonym symbol(s) PBG, PBGD, UPS, HEM3
    EC.number 2.5.1.61
    DNA
    TYPE functioning gene
    STRUCTURE 6.00 kb     9 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
    Physical map
    KIAA0638 11q23.3 ubiquitin specific protease 2 TREH 11q23.3 trehalase (brush-border membrane glycoprotein) DDX6 11q23.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 LOC338656 11q23.3 similar to protein phosphatase 2A inhibitor-2 I-2PP2A BLR1 11q23.3 Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5) BCL9L 11q23.3 B-cell CLL/lymphoma 9-like UPK2 11q23 uroplakin 2 LOC283150 11q23.3 hypothetical protein LOC283150 DLNB14 11q23.3 similar to DLNB14 RPS25 11q23.3 ribosomal protein S25 TRAPPC4 11q23.3 trafficking protein particle complex 4 SLC37A4 11q23.3 solute carrier family 37 (glycerol-6-phosphate transporter), member 4 HYOU1 11q23.1-q23.3 hypoxia up-regulated 1 VPS11 11q23 vacuolar protein sorting 11 (yeast) HMBS 11q23.3 hydroxymethylbilane synthase H2AFX 11q23.3 H2A histone family, member X DPAGT1 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) KIAA0285 11q23.3 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) MIZF 11q23.3 MBD2 (methyl-CpG-binding protein)-interacting zinc finger protein ABCG4 11q23.3 ATP-binding cassette, sub-family G (WHITE), member 4 NOD9 11q23.3 NOD9 protein PDZK2 11q23.3 PDZ domain containing 2 LOC387812 11 LOC387812 CBL 11q23.3 Cas-Br-M (murine) ecotropic retroviral transforming sequence MCAM 11q23.3 melanoma cell adhesion molecule RNF26 11q23 ring finger protein 26 C1QTNF5 11q23.3 C1q and tumor necrosis factor related protein 5 MFRP 11q23 membrane frizzled-related protein USP2 11q23.3 ubiquitin specific protease 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - polyA site 1428 40 344 erythrocytic Grandchamp, Raich
    - - 1526 42 361 non erythroid cells N terminal 17 residues Grandchamp, Raich
    EXPRESSION
    Type ubiquitous
    constitutive of
       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   
    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
    • 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