Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMBS Gene

protein-coding   GIFtS: 65
GCID: GC11P118955

Hydroxymethylbilane Synthase

(Previous names: uroporphyrinogen I synthase, porphobilinogen deaminase,...)
(Previous symbols: PBGD, UPS, PORC)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Hydroxymethylbilane Synthase1 2 3     Uroporphyrinogen I Synthase1 2
PBGD1 2 3 5     Pre-Uroporphyrinogen Synthase2 3
UPS1 2 3 5     PBG-D2 3
PORC1 2     EC 2.5.1.613 8
Porphobilinogen Deaminase1 2     Uroporphyrinogen I Synthetase2
Porphyria, Acute; Chester Type1 2     

External Ids:    HGNC: 49821   Entrez Gene: 31452   Ensembl: ENSG000002562697   OMIM: 6098065   UniProtKB: P083973   

Export aliases for HMBS gene to outside databases

Previous GC identifers: GC11P135563 GC11P120467 GC11P118989 GC11P118493 GC11P118460 GC11P114895


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HMBS Gene:
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third
enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen
molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant
disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have
been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for HMBS Gene: 
HMBS (hydroxymethylbilane synthase) is a protein-coding gene. Diseases associated with HMBS include porphyria, and acute intermittent porphyria, and among its related super-pathways are superpathway of heme biosynthesis from glycine and Metabolic pathways. GO annotations related to this gene include hydroxymethylbilane synthase activity.

UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
Function: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several
discrete steps

Gene Wiki entry for HMBS (Porphobilinogen deaminase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMBS gene promoter:
         TBP   GATA-3   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHMBS promoter sequence
   Search SABiosciences Chromatin IP Primers for HMBS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMBS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

HMBS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMBS gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P118955:  view genomic region     (about GC identifiers)

Start:
118,955,576 bp from pter      End:
118,964,259 bp from pter
Size:
8,684 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397 (See protein sequence)
Recommended Name: Porphobilinogen deaminase  
Size: 361 amino acids; 39330 Da
Cofactor: Binds 1 dipyrromethane group covalently
Subcellular location: Cytoplasm (Probable)
Miscellaneous: The porphobilinogen subunits are added to the dipyrromethane group
2 PDB 3D structures from and Proteopedia for HMBS:
3ECR (3D)        3EQ1 (3D)    
Secondary accessions: A8K2L0 G3V1P4 G5EA58 P08396 Q16012
Alternative splicing: 4 isoforms:  P08397-1   P08397-2   P08397-3   P08397-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMBS: NX_P08397

Explore proteomics data for HMBS at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08397

  • 4 DME Specific Peptides for HMBS (P08397)
     RGNLNTR  GTSSLRR  LEGGCSVP  TRLRKLDE 

    HMBS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HMBS Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_000181.2  NP_001019553.1  NP_001245137.1  NP_001245138.1  

    ENSEMBL proteins: 
     ENSP00000444849   ENSP00000278715   ENSP00000438726   ENSP00000444730   ENSP00000443058  
     ENSP00000445599   ENSP00000392041   ENSP00000444817   ENSP00000438424   ENSP00000439904  
     ENSP00000445429   ENSP00000440092   ENSP00000442079   ENSP00000376584  
    Reactome Protein details: P08397
    Human Recombinant Protein Products for HMBS: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for HMBS
    OriGene Protein Over-expression Lysate for HMBS
    OriGene MassSpec for HMBS 
    OriGene Custom Protein Services for HMBS
    GenScript Custom Purified and Recombinant Proteins Services for HMBS
    Novus Biologicals HMBS Proteins
    Novus Biologicals HMBS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HMBS
    Cloud-Clone Corp. Proteins for HMBS 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    HMBS for ontologies           About GeneDecksing



    HMBS Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for HMBS
    OriGene Custom Antibody Services for HMBS
    GenScript Custom Superior Antibodies Services for HMBS
    Novus Biologicals HMBS Antibodies
    Abcam antibodies for HMBS
    Cloud-Clone Corp. Antibodies for HMBS 
    Search ThermoFisher Antibodies for HMBS
    LSBio Antibodies in human, mouse, rat for HMBS 

    Assay Products for HMBS: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HMBS
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HMBS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HMBS 
    Cloud-Clone Corp. CLIAs for HMBS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR022418 Porphobilinogen_deaminase_C
     IPR000860 4pyrrol_synth_OHMeBilane_synth
     IPR022419 Porphobilin_deaminase_cofac_BS
     IPR022417 Porphobilin_deaminase_N

    Graphical View of Domain Structure for InterPro Entry P08397

    ProtoNet protein and cluster: P08397

    1 Blocks protein domain: IPB000860 Porphobilinogen deaminase

    UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
    Similarity: Belongs to the HMBS family


    HMBS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEM3_HUMAN, P08397
    Function: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several
    discrete steps
    Catalytic activity: 4 porphobilinogen + H(2)O = hydroxymethylbilane + 4 NH(3)

         Genatlas biochemistry entry for HMBS:
    hydroxymethylbilane synthase,cytosolic,catalyzing the polymerization of four PGB,third step of porphyrin
    biosynthesis

         Enzyme Number (IUBMB): EC 2.5.1.611 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004418hydroxymethylbilane synthase activity TAS--
         
    HMBS for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hmbs):
     behavior/neurological  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     normal  renal/urinary system 

    HMBS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hmbstm1Uam for HMBS

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HMBS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMBS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMBS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMBS 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMBS
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate HMBS:
    hsa-miR-409-5p hsa-miR-4311 hsa-miR-181c hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidHMBS 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HMBS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMBS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HMBS
    Sirion Biotech Customized adenovirus for overexpression of HMBS

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HMBS (see all 13)
    OriGene ORF clones in mouse, rat for HMBS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HMBS (NM_001024382)
    Sino Biological Human cDNA Clone for HMBS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMBS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMBS
    Sirion Biotech Customized lentivirus for stable overexpression of HMBS 
                         Customized lentivirus expression plasmids for stable overexpression of HMBS 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HMBS
    Search LifeMap BioReagents cell lines for HMBS
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMBS


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HMBS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Heme Biosynthesis
    Heme Biosynthesis0.82
    Metabolism of porphyrins0.69
    Heme biosynthesis0.82
    tetrapyrrole biosynthesis II (from glycine)0.57
    superpathway of heme biosynthesis from glycine0.78
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucuronidation
    Porphyrin and chlorophyll metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for HMBS
        Heme Biosynthesis
    tetrapyrrole biosynthesis II (from glycine)
    superpathway of heme biosynthesis from glycine


    3        Reactome Pathways for HMBS
        Metabolism of porphyrins
    Heme biosynthesis
    Metabolism


    2         Kegg Pathways  (Kegg details for HMBS):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from
    5-aminolevulinate: step 2/4


    HMBS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMBS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/12 Interacting proteins for HMBS (P083973 ENSP000002787154) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALADP137163, ENSP000003862844I2D: score=2 STRING: ENSP00000386284
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    URODP061323, ENSP000002463374I2D: score=1 STRING: ENSP00000246337
    FDPSP143243I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0018160peptidyl-pyrromethane cofactor linkage IEA--
    GO:0033014tetrapyrrole biosynthetic process ----

    HMBS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HMBS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMBS (HEM3)

    6 HMDB Compounds for HMBS    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Hydroxymethylbilane3,8,13,18-tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate (see all 8)73023-76-4--
    Porphobilinogen5-(aminomethyl)-4-(carboxymethyl)-Pyrrole-3-propionate (see all 4)487-90-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/35 Novoseek inferred chemical compound relationships for HMBS gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphobilinogen 99.1 512 17375984 (12), 11953837 (5), 11202055 (4), 12962144 (3) (see all 99)
    hydroxymethylbilane 98.2 120 7696440 (3), 12555854 (2), 16828319 (2), 7962538 (2) (see all 57)
    uroporphyrinogen-iii 86.4 18 7592565 (2), 11836252 (1), 19021769 (1), 8949908 (1) (see all 9)
    5-aminolevulinic acid 85.3 70 12962144 (3), 9570906 (2), 9675887 (2), 10483361 (2) (see all 28)
    porphyrin 79.1 32 19815305 (3), 9744510 (2), 19460837 (2), 9460994 (2) (see all 16)
    uroporphyrin 76.3 2 9675887 (1), 10350189 (1)
    protoporphyrin ix 75.8 24 10946577 (2), 9460994 (2), 9675887 (1), 9744510 (1) (see all 13)
    actb 75.1 9 16211407 (2), 17257226 (2), 16600798 (1), 19622337 (1) (see all 6)
    heme arginate 74.4 1 11343251 (1)
    ppix 73.9 27 10483361 (3), 9460994 (3), 10946577 (2), 15150593 (2) (see all 9)

    Search CenterWatch for drugs/clinical trials and news about HMBS / HEM3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HMBS gene (4 alternative transcripts): 
    NM_000190.3  NM_001024382.1  NM_001258208.1  NM_001258209.1  

    Unigene Cluster for HMBS:

    Hydroxymethylbilane synthase
    Hs.82609  [show with all ESTs]
    Unigene Representative Sequence: BU168137
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000536185 ENST00000545901 ENST00000545621(uc009zao.2) ENST00000278715(uc001puz.1 uc001pva.1)
    ENST00000536813 ENST00000537841 ENST00000542729(uc001pve.1) ENST00000543821
    ENST00000546302 ENST00000442944 ENST00000542822 ENST00000542044 ENST00000544387
    ENST00000535793 ENST00000543090 ENST00000539986 ENST00000535253 ENST00000542345

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMBS
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate HMBS:
    hsa-miR-409-5p hsa-miR-4311 hsa-miR-181c hsa-miR-181a hsa-miR-181d hsa-miR-4262 hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidHMBS 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HMBS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMBS
    Clone
    Products:
         
    OriGene clones in human, mouse for HMBS (see all 13)
    OriGene ORF clones in mouse, rat for HMBS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HMBS (NM_001024382)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMBS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMBS
    Sirion Biotech Customized lentivirus for stable overexpression of HMBS 
                         Customized lentivirus expression plasmids for stable overexpression of HMBS 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for HMBS
    OriGene qSTAR qPCR primer pairs in human, mouse for HMBS
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HMBS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMBS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMBS

    Additional mRNA sequence: 

    AK000628.1 AK131072.1 AK290275.1 AK309544.1 AK310343.1 BC000520.2 BC008149.1 BC019323.1 
    D28419.1 M60888.1 X04217.1 X04808.1 

    24/27 DOTS entries (see all 27):

    DT.450532  DT.100822871  DT.100822878  DT.100822874  DT.97851819  DT.120752103  DT.100762204  DT.100822885 
    DT.120752095  DT.100822877  DT.92441474  DT.92441476  DT.100822876  DT.100829629  DT.116131  DT.120752158 
    DT.101985125  DT.450528  DT.100696987  DT.100822879  DT.100822881  DT.120752147  DT.120752167  DT.100844292 

    24/473 AceView cDNA sequences (see all 473):

    BI857976 CR614466 AU120403 BX647328 BC019323 AA456794 BM564207 AW303587 
    AA293048 AI192609 CR595054 AI123923 NM_000190 CR611265 AI131338 R54734 
    BM852928 AI123934 BU680464 BE220626 BE676797 AA233129 AW245473 AW007786 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMBS expression in normal human tissues (normalized intensities)      HMBS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGATGGCCC
    HMBS Expression
    About this image


    HMBS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Bone Marrow CD105+ Cells   
             bone marrow mononuclear cells   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
             bone marrow   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Lower Urinary Tract (Urinary System)
             visceral organ   

    See HMBS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMBS

    SOURCE GeneReport for Unigene cluster: Hs.82609

    UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
    Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells

        SABiosciences Custom PCR Arrays for HMBS
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HMBS
    OriGene qSTAR qPCR primer pairs in human, mouse for HMBS
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HMBS
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMBS
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMBS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMBS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HMBS gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmbs1 , 5 hydroxymethylbilane synthase1, 5 87.37(n)1
    91.36(a)1
      9 (24.84 cM)5
    152881  NM_013551.21  NP_038579.21 
     443363505 
    chicken
    (Gallus gallus)
    Aves HMBS1 hydroxymethylbilane synthase 70.79(n)
    76.44(a)
      419701  XM_417846.3  XP_417846.2 
    lizard
    (Anolis carolinensis)
    Reptilia HMBS6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL344481.1(1160-9423)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.325922 Xenopus laevis transcribed sequence with moderate similarity more 76.57(n)    CA790731.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc641282 similar to hydroxymethylbilane synthase 75.65(n)   394129  BC053268.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)026401 lethal (3) 02640 56.29(n)
    54.55(a)
      46140  NM_138259.2  NP_612103.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM3(YDL205C)4
    HEM31
    Porphobilinogen deaminase, catalyzes the conversion more4
    Hem3p1
    51.03(n)1
    43.32(a)1
      4(93745-92762)4
    8513221, 4  NP_010076.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HEMC1 Porphobilinogen deaminase 44.86(n)
    39.73(a)
      830724  NM_120911.3  NP_196445.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01688001 hypothetical protein 46.53(n)
    40.99(a)
      4328432  NM_001052552.1  NP_001046017.1 


    ENSEMBL Gene Tree for HMBS (if available)
    TreeFam Gene Tree for HMBS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HMBS gene
    1 SIMAP similar gene for HMBS using alignment to 11 protein entries:     HEM3_HUMAN (see all proteins):
    PBGD

    HMBS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/442 SNPs in HMBS are shown (see all 442)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0036484
    Acute intermittent porphyria (AIP)4--see VAR_0036482 P L mis40--------
    VAR_0255604
    Acute intermittent porphyria (AIP)4--see VAR_0255602 D Y mis40--------
    VAR_0110014
    Acute intermittent porphyria (AIP)4--see VAR_0110012 G S mis40--------
    VAR_0036594
    Acute intermittent porphyria (AIP)4--see VAR_0036592 E K mis40--------
    VAR_0255694
    Acute intermittent porphyria (AIP)4--see VAR_0255692 D H mis40--------
    VAR_0036674
    Acute intermittent porphyria (AIP)4--see VAR_0036672 A T mis40--------
    VAR_0036554
    Acute intermittent porphyria (AIP)4--see VAR_0036552 L R mis40--------
    VAR_0255744
    Acute intermittent porphyria (AIP)4--see VAR_0255742 R Q mis40--------
    VAR_0255674
    Acute intermittent porphyria (AIP)4--see VAR_0255672 S F mis40--------
    VAR_0036714
    Acute intermittent porphyria (AIP)4--see VAR_0036712 G R mis40--------

    HapMap Linkage Disequilibrium report for HMBS (118955576 - 118964259 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HMBS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv898416CNV Loss21882294


    Human Gene Mutation Database (HGMD): HMBS
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HMBS
    DNA2.0 Custom Variant and Variant Library Synthesis for HMBS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609806   
    OMIM disorders: 176000  
    UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
  • Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in
    the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin
    precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs
    in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by
    attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension,
    tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation,
    infections, or endocrine factors. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/46 diseases for HMBS (see all 46):    About MalaCards
    porphyria    acute intermittent porphyria    acute porphyria    chester porphyria
    porphyria, acute intermittent, nonerythroid variant    acute hepatic porphyria    variegate porphyria    erythropoietic protoporphyria
    autosomal dominant disease    ocular melanoma    hereditary coproporphyria    congenital erythropoietic porphyria
    lichen sclerosus    porphyria cutanea tarda    beta thalassemia    synovial sarcoma
    metabolic disorders    peripheral neuropathy    thalassemia    seminoma

    6 diseases from the University of Copenhagen DISEASES database for HMBS:
    Acute intermittent porphyria     Variegate porphyria     Hereditary coproporphyria     Porphyria cutanea tarda
    Autosomal dominant disease     Histrionic personality disorder

    HMBS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/29 Novoseek inferred disease relationships for HMBS gene (see all 29)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphyria acute intermittent 97.9 206 19815305 (4), 15469427 (2), 10207164 (2), 11071386 (2) (see all 99)
    porphyria 89.9 9 16390615 (2), 18406650 (1), 14669009 (1), 8340112 (1) (see all 6)
    porphyria hepatic 87.2 17 17298218 (1), 8024730 (1), 19292878 (1), 8563760 (1) (see all 9)
    porphyria variegate 82.5 6 11800145 (2), 9455613 (1), 14669009 (1), 8340112 (1)
    coproporphyria hereditary 80 1 14669009 (1)
    porphyria, congenital erythropoietic 65.2 1 19934113 (1)
    metabolic disorder 46.9 10 1961762 (1), 16211556 (1), 1301948 (1), 9238757 (1) (see all 6)
    enzyme deficiency 42.8 4 12962144 (1), 9164637 (1), 8340112 (1)
    minimal residual disease 34.1 2 16950675 (1)
    acute disease 31.9 4 7712294 (1), 1973402 (1), 11436563 (1)

    Genatlas disease: HMBS
    porphyria,acute,intermittent (AIP),including an erythroid form and a non-erythroid variant

    GeneTests: HMBS
    GeneReviews: HMBS
    Genetic Association Database (GAD): HMBS
    Human Genome Epidemiology (HuGE) Navigator: HMBS (6 documents)

    Export disorders for HMBS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HMBS gene, integrated from 9 sources (see all 312):
    (articles sorted by number of sources associating them with HMBS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. (PubMed id 11857754)1, 2, 9 Gregor A.... Minder E.I. (2002)
    2. Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms. (PubMed id 11030413)1, 2, 9 Robreau-Fraolini A.M.... Deybach J.-C. (2000)
    3. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. (PubMed id 10453740)1, 2, 9 Whatley S.D.... Elder G.H. (1999)
    4. New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. (PubMed id 10657149)1, 2, 9 Gross U....Deybach J.-C. (1999)
    5. Structural insight into acute intermittent porphyria. (PubMed id 18936296)1, 2, 9 Song G.... Liu Z.J. (2009)
    6. Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria. (PubMed id 19207107)1, 2, 9 Gill R....Shoolingin-Jordan P.M. (2009)
    7. HMBS mutations in Chinese patients with acute intermittent porphyria. (PubMed id 18627369)1, 4, 9 Yang C.C....Lee M.J. (2008)
    8. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. (PubMed id 7757070)1, 2, 9 Kauppinen R.... Mustajoki P. (1995)
    9. Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria. (PubMed id 15643298)1, 4, 9 von und zu Fraunberg M....Kauppinen R. (2005)
    10. Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. (PubMed id 12406973)1, 2, 9 Kauppinen R. and von und zu Fraunberg M. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3145 HGNC: 4982 AceView: HMBS Ensembl:ENSG00000256269 euGenes: HUgn3145
    ECgene: HMBS Kegg: 3145 H-InvDB: HMBS

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HMBS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HMBS

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HMBS gene:
    Search GeneIP for patents involving HMBS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for HMBS   OriGene RNAi products in human, mouse, rat for HMBS  
     OriGene qPCR primer pairs and template standards for HMBS   OriGene Protein Over-expression Lysate for HMBS  
     OriGene MassSpec something-or-other for HMBS   OriGene clones in human, mouse for HMBS  
     OriGene qSTAR qPCR primer pairs in human, mouse for HMBS   OriGene Purified Protein for HMBS  
     OriGene ORF clones in mouse, rat for HMBS   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HMBS   OriGene Custom Protein Services for HMBS  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMBS
     QIAGEN SeqTarget long-range PCR primers for resequencing HMBS
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMBS
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMBS
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMBS
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMBS
     GenScript Custom Purified and Recombinant Proteins Services for HMBS GenScript cDNA clones with any tag delivered in your preferred vector for HMBS
     GenScript Custom Assay Services for HMBS GenScript Custom Superior Antibodies Services for HMBS
     GenScript Custom overexpressing Cell Line Services for HMBS CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HMBS promoter
     Search Chromatin IP Primers for HMBS
     RT2 qPCR Primer Assay in human, mouse / rat HMBS
     Search GNC Networks for HMBS
     SABiosciences Custom PCR Arrays for HMBS
     Search Tocris compounds for HMBS (HEM3)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for HMBS
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HMBS antibodies
     HMBS proteins
     HMBS lysates
     Antibodies for HMBS
     See all of Abcam's Antibodies, Kits and Proteins for HMBS
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HMBS




     Proteins for HMBS
     Antibodies for HMBS
     ELISAs for HMBS
     CLIAs for HMBS
     Search LifeMap BioReagents cell lines for HMBS
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMBS
     SwitchGear 3'UTR luciferase reporter plasmids for HMBS
     SwitchGear Promoter luciferase reporter plasmids for HMBS
     Search ThermoFisher Antibodies for HMBS
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMBS
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HMBS
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HMBS
    Customized:
     lentivirus for stable overexpression of HMBS
     lentivirus expression plasmids for stable overexpression of HMBS
     adenovirus for overexpression of HMBS
     LSBio Antibodies in human, mouse, rat for HMBS
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HMBS gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4