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

HMBS Gene

protein-coding   GIFtS: 63
GCID: GC11P118955

hydroxymethylbilane synthase

(Previous names: uroporphyrinogen I synthase, porphobilinogen deaminase,...)
(Previous symbols: PBGD, UPS, PORC)
 Explore 53 diseases affiliated with
HMBS via
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our new
 Human Malady Compendium 
Biological research products
for HMBS    

Aliases
for HMBS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for HMBS gene

(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:
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)

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)


Genomic Views
for HMBS 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
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 plasmid: HMBS 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: 11q23.2-qter

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

Proteins
for HMBS gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 P08396 Q16012
Alternative splicing: 2 isoforms:  P08397-1   P08397-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P08397

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

    HMBS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals HMBS Proteins
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    ProSpec Recombinant Protein for HMBS
    Uscn Proteins for HMBS

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000793condensed chromosome ----
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0030424axon ----


    HMBS for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HMBS

    Protein Domains /
    Families
    for HMBS gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HMBS for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB000860 Porphobilinogen deaminase

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


    Function
    for HMBS gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    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 plasmid: HMBS 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMBS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for HMBS

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMBS (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 2): HMBS (NM_001024382)
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    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004418hydroxymethylbilane synthase activity IDA18004775
    GO:0004852uroporphyrinogen-III synthase activity ----
    GO:0005515protein binding ----
    GO:0031406carboxylic acid binding ----
    GO:0043176amine binding ----


    HMBS for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Hmbstm1Uam for HMBS
         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


    Pathways & Interactions
    for HMBS gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1heme biosynthesis II
    		heme biosynthesis II1.00
    		tetrapyrrole biosynthesis II0.57
    		Heme biosynthesis0.78
    		Metabolism of porphyrins0.50
    		Heme Biosynthesis0.78
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Glucuronidation
    		Porphyrin and chlorophyll metabolism0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 BioSystems Pathways for HMBS 
        Heme Biosynthesis
    tetrapyrrole biosynthesis II
    heme biosynthesis II

    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 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): 5/28 biological process terms (GO ID links to tree view) (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia ----
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0009725response to hormone stimulus ----


    HMBS for ontologies           About GeneDecksing



    Drugs & Compounds
    for HMBS gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for HMBS gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


    miRNA
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    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 plasmid: HMBS 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    BQ434697 CB111144 AI123934 AI222895 AA658178 AI123923 AW007786 H38188 
    CR606553 BU732465 CR596302 CR603362 BE549696 BM808229 AI193722 H16469 
    BE676797 BI766218 AI192609 AA570126 BC019323 BF439898 BX647328 AI131338 

    GeneLoc Exon Structure


    Expression
    for HMBS gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGATGGCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HMBS expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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

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    In Situ
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMBS

    Orthologs
    for HMBS gene

    (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 last universal common ancestor (LUCA).

    Orthologs for HMBS gene from 10/35 species (see all 35)    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
    		 --
    		 71(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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria hemC6
    		 hydroxymethylbilane synthase
    		 46(a)
    		 1 ↔ 1
    		 Chromosome(3987848-3988789) b3805


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

    Paralogs
    for HMBS gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for HMBS gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/255 NCBI SNPs in HMBS are shown (see all 255)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1182040951,2
    		Cpathogenic118472444(+) ACAGCA/G/TGGGAA 12 Q R L mis10--------
    rs760148571,2
    		--114893371(+) TTCATC/TTGTAC 3 -- us2k11Minor allele frequency- T:0.01WA 118
    rs79521381,2
    		C,F,H,--114893409(+) TGGCTA/GTTATG 3 -- us2k19Minor allele frequency- G:0.03NS EA NA 960
    rs1134507381,2
    		--114893926(+) TACAGA/GTGTGT 3 -- us2k12Minor allele frequency- G:0.33CSA 3
    rs1127087081,2
    		--114894048(+) AAAGTG/ACTGGG 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs764094251,2
    		--114897548(+) TGTTGC/GTGAAA 4 -- int1 us2k10--------
    rs79277521,2
    		C,--114897592(+) GCAGCA/GCAGCC 4 -- int1 us2k10--------
    rs1121813101,2
    		--114898287(+) TCTGAG/CACTCA 4 -- int12Minor allele frequency- C:0.06CSA WA 120
    rs761590841,2
    		--114898298(+) GCTGGC/ACACAG 4 -- int12Minor allele frequency- A:0.05CSA WA 120
    rs11440411,2
    		C,F,H,--114898728(+) ACCTGT/CGACAG 4 -- int121Minor allele frequency- C:0.19MN NS EA NA CSA WA 2212

    HapMap Linkage Disequilibrium report for HMBS (118955576 - 118964259 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HMBS: --
    Human Gene Mutation Database (HGMD): HMBS

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMBS
    DNA2.0 Custom Variant and Variant Library Synthesis for HMBS

    Disorders / Diseases
    for HMBS gene

    (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.)
    About This Section
    HMBS for disorders           About GeneDecksing

    OMIM gene information: 609806   
    OMIM disorders: 176000  
    UniProtKB/Swiss-Prot: HEM3_HUMAN, P08397
  • Defects in HMBS are the cause of acute intermittent porphyria (AIP) [MIM:176000]. AIP is 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 acute attacks of neurological dysfunctions with abdominal pain, hypertension, tachycardia, and
    peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine
    factors

    20/53 diseases for HMBS (see all 53):    About MalaCards
    porphyria    acute intermittent porphyria    porphyria, acute intermittent, nonerythroid variant    autosomal dominant disease
    hydroxymethylbilane synthase deficiency    porphyria cutanea tarda    congenital erythropoietic porphyria    coproporphyria
    erythropoietic protoporphyria    variegate porphyria    chester porphyria    hereditary coproporphyria
    lichen sclerosus    beta thalassemia    acute hepatic porphyria    metabolic disorders
    myeloid leukemia    acute porphyria    synovial sarcoma    peripheral neuropathy

    3 diseases from the University of Copenhagen DISEASES database for HMBS:
    Acute intermittent porphyria     Variegate porphyria     Hereditary coproporphyria

    10/29 Novoseek 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
    Hydroxymethylbilane Synthase Deficiency

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

    Export disorders for HMBS gene to outside databases

    Publications
    for HMBS gene

    (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 309):
    (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. Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene. (PubMed id 7757070)1, 2, 9 Kauppinen R.... Mustajoki P. (1995)
    8. 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)
    9. 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)
    10. Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria. (PubMed id 10782018)1, 2, 9 Schneider-Yin X.... Deybach J.-C. (2000)

    External Searches for HMBS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HMBS gene

    (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

    Other Databases showing HMBS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HMBS gene

    (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

    Intellectual Property
    for HMBS gene

    (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



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