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HMBS Gene

protein-coding   GIFtS: 67
GCID: GC11P118955

Hydroxymethylbilane Synthase

(Previous names: uroporphyrinogen I synthase, porphobilinogen deaminase,...)
(Previous symbols: PBGD, UPS, PORC)
  See HMBS-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

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   
ORGUL members:    fRNAdb10:FR130715      
H-InvDB12:HIT000101248    
NCBI13:D28419    
RNAdb15:HIV2588    

Export aliases for HMBS gene to outside databases

Previous GC identifers: GC11P135563 GC11P120467 GC11P118989 GC11P118493 GC11P118460 GC11P114895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 histrionic personality disorder, and acute porphyria. 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

fRNAdb sequence ontology for HMBS:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for HMBS

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NT_033899.9  NC_018922.2  
Regulatory elements:
   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 Chromatin IP Primers for HMBS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys227
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for HMBS (P08397)
     RGNLNTR  GTSSLRR  LEGGCSVP  TRLRKLDE 


    See HMBS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    HMBS Human Recombinant Protein Products:

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    Novus Biologicals HMBS Proteins
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    ProSpec Recombinant Protein for HMBS
    Cloud-Clone Corp. Proteins for HMBS

     
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    antibodies-online proteins for HMBS (7 products) 

     
    antibodies-online peptides for HMBS

    HMBS Antibody Products:

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    antibodies-online antibodies for HMBS (38 products) 

    HMBS Assay Products:

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    Cloud-Clone Corp. ELISAs for HMBS
    Cloud-Clone Corp. CLIAs for HMBS
    Search eBioscience for ELISAs for HMBS 
    antibodies-online kits for HMBS (10 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with HMBS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004418hydroxymethylbilane synthase activity TAS--
         
    Find genes that share ontologies with HMBS           About GenesLikeMe


    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 

    Find genes that share phenotypes with HMBS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Hmbstm1Uam for HMBS

       genOway: Develop your customized and physiologically relevant rodent model for HMBS

    miRNA
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    miRTarBase miRNAs that target HMBS:
    hsa-mir-25-3p (MIRT050301)

    Block miRNA regulation of human, mouse, rat HMBS using miScript Target Protectors
    7 qRT-PCR 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:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat HMBS

    Gene Editing
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    Clone
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    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

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    In Situ Assay
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13104 VA4-11495 VA6-13196) for HMBS 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HEM3_HUMAN, P08397: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with HMBS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HMBS About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    heme biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    Heme Biosynthesis0.00
    tetrapyrrole biosynthesis0.00
    Heme biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38


    Find genes that share SuperPaths with HMBS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for HMBS
        Heme Biosynthesis
    tetrapyrrole biosynthesis
    heme biosynthesis


    1 Reactome Pathway for HMBS
        Heme biosynthesis


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HMBS
    Interactions:

        Search GeneGlobe Interaction Network for HMBS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for HMBS (P083973 ENSP000002787154) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALADP137163, ENSP000003862844I2D: score=2 STRING: ENSP00000386284
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    URODP061323, ENSP000002463374I2D: score=1 STRING: ENSP00000246337
    FDPSP143243I2D: score=1 
    FHP079543I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with HMBS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with HMBS           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    1 fRNAdb Secondary structure:


    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
    Selected 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

    miRNA
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    7 qRT-PCR 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
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    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 473):

    AW007786 AI369687 H38511 AK000628 BM718402 BI766218 AW770682 CR620096 
    CR612613 BC008149 AA658178 AA233129 AI989750 H16469 BQ425917 AI123923 
    AA773829 BQ020524 BM559781 AI222895 BC019323 BI857976 AA292963 CB112277 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HMBS expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
    HMBS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HMBS Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HMBS gene from Selected 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_417846.4  XP_417846.2 
    lizard
    (Anolis carolinensis)
    Reptilia HMBS6
    hydroxymethylbilane synthase
    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)
    54.9(a)
      46140  NM_138259.3  NP_612103.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM3(YDL205C)4
    HEM31
    Porphobilinogen deaminase, catalyzes the conversion more4
    HEM31
    51.03(n)1
    43.32(a)1
      4(93745-92762)4
    8513221, 4  NP_010076.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HEMC1 HEMC 45.4(n)
    40.34(a)
      830724  NM_120911.3  NP_196445.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01688001 Os02g0168800 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)
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    Paralogs for HMBS gene
    1 SIMAP similar gene for HMBS using alignment to 11 protein entries:     HEM3_HUMAN (see all proteins):
    PBGD

    Find genes that share paralogs with HMBS           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HMBS (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
    ----------
    rs344136341,2,,4
    C,FAcute intermittent porphyria (AIP)4 --118826806(+) TGCAGC/TGCATG 8 R C mis14Minor allele frequency- T:0.00NA 2636
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609806OMIM information: 194071 604499 607967 609270 609470    
    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

  • 16 diseases for HMBS:    
    About MalaCards
    histrionic personality disorder    acute porphyria    acute intermittent porphyria    porphyria, acute intermittent, nonerythroid variant
    porphyria    chester porphyria    colonic pseudo-obstruction    acute hepatic porphyria
    hereditary coproporphyria    autosomal dominant disease    variegate porphyria    erythropoietic protoporphyria
    ocular melanoma    lichen sclerosus    congenital erythropoietic porphyria    schizophrenia

    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

    Find genes that share disorders with HMBS           About GenesLikeMe

    Selected 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)
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    PubMed articles for HMBS gene, integrated from 10 sources (see all 317):
    (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. (Hum. Mutat. 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. (Hum. Genet. 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. (Hum. Genet. 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. (Mol. Cell. Probes 1999)
    5. Structural insight into acute intermittent porphyria. (PubMed id 18936296)1, 2, 9 Song G.... Liu Z.J. (FASEB 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. (Biochem. J. 2009)
    7. HMBS mutations in Chinese patients with acute intermittent porphyria. (PubMed id 18627369)1, 4, 9 Yang C.C....Lee M.J. (Ann. Hum. Genet. 2008)
    8. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. (PubMed id 7757070)1, 2, 9 Kauppinen R.... Mustajoki P. (Hum. Mol. Genet. 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. (Medicine (Baltimore) 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. (Clin. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 3145 HGNC: 4982 AceView: HMBS Ensembl:ENSG00000256269 euGenes: HUgn3145
    ECgene: HMBS Kegg: 3145 H-InvDB: HMBS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HMBS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HMBS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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