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

ALAD Gene

protein-coding   GIFtS: 65
GCID: GC09M116148

Aminolevulinate Dehydratase

(Previous names: aminolevulinate, delta-, dehydratase)
  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
Aminolevulinate Dehydratase1 2     EC 4.2.1.243 8
Porphobilinogen Synthase1 2 3     PBGS2 5
ALADH2 3 5     Delta-Aminolevulinic Acid Dehydratase2
Aminolevulinate, Delta-, Dehydratase1 2     

External Ids:    HGNC: 3951   Entrez Gene: 2102   Ensembl: ENSG000001482187   OMIM: 1252705   UniProtKB: P137163   

Export aliases for ALAD gene to outside databases

Previous GC identifers: GC09M106947 GC09M107880 GC09M109602 GC09M111524 GC09M113228 GC09M115188 GC09M085755


(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 ALAD Gene:
The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of
delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD
catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic
activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause
increased sensitivity to lead poisoning and acute hepatic porphyria. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALAD Gene: 
ALAD (aminolevulinate dehydratase) is a protein-coding gene. Diseases associated with ALAD include lead poisoning, and acute hepatic porphyria, and among its related super-pathways are superpathway of heme biosynthesis from glycine and Metabolic pathways. GO annotations related to this gene include porphobilinogen synthase activity and identical protein binding.

UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716
Function: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate
per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen

Gene Wiki entry for ALAD 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_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALAD gene promoter:
         GR   Tal-1beta   IRF-2   HFH-1   deltaCREB   HOXA5   GR-alpha   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALAD promoter sequence
   Search SABiosciences Chromatin IP Primers for ALAD

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


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

Entrez Gene cytogenetic band: 9q33.1   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q32

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M116148:  view genomic region     (about GC identifiers)

Start:
116,148,592 bp from pter      End:
116,163,618 bp from pter
Size:
15,027 bases      Orientation:
minus 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: HEM2_HUMAN, P13716 (See protein sequence)
Recommended Name: Delta-aminolevulinic acid dehydratase  
Size: 330 amino acids; 36295 Da
Cofactor: Binds 8 zinc ions per octamer. Requires four zinc ions per octamer for full catalytic activity. Can bind
up to 2 zinc ions per subunit
Subunit: Homooctamer; active form. Homohexamer; low activity form
Sequence caution: Sequence=AAH00977.3; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for ALAD:
1E51 (3D)        1PV8 (3D)    
Secondary accessions: A8K375 B2R6F2 Q16870 Q16871 Q9BVQ9
Alternative splicing: 2 isoforms:  P13716-1   P13716-2   

Explore the universe of human proteins at neXtProt for ALAD: NX_P13716

Explore proteomics data for ALAD at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13716

  • 4/11 DME Specific Peptides for ALAD (P13716) (see all 11)
     LIYPIFV  YSAKFAS  GPFRDAA  LLRKTFP 

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

    ALAD Protein Expression
    REFSEQ proteins: NP_000022.3  
    ENSEMBL proteins: 
     ENSP00000386284   ENSP00000392748   ENSP00000415737   ENSP00000398438   ENSP00000277315  
    Reactome Protein details: P13716
    Human Recombinant Protein Products for ALAD: 
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    Novus Biologicals ALAD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ALAD
    Cloud-Clone Corp. Proteins for ALAD 

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

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

    ALAD for ontologies           About GeneDecksing



    ALAD Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR001731 Porphobilinogen_synth

    Graphical View of Domain Structure for InterPro Entry P13716

    ProtoNet protein and cluster: P13716

    1 Blocks protein domain: IPB001731 Delta-aminolevulinic acid dehydratase

    UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716
    Similarity: Belongs to the ALADH family


    ALAD 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: HEM2_HUMAN, P13716
    Function: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate
    per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen
    Catalytic activity: 2 5-aminolevulinate = porphobilinogen + 2 H(2)O
    Enzyme regulation: Can alternate between a fully active homooctamer and a low-activity homohexamer. A bound
    magnesium ion may promote the assembly of the fully active homooctamer. The magnesium-binding site is absent in
    the low-activity homohexamer. Inhibited by compounds that favor the hexameric state. Inhibited by divalent lead
    ions. The lead ions partially displace the zinc cofactor
    Biophysicochemical properties: Kinetic parameters: KM=0.09 mM for 5-aminolevulinate at pH 7; Vmax=43 umol/h/mg
    enzyme at pH 7; pH dependence: Optimum pH is 6.8-7.3;

         Genatlas biochemistry entry for ALAD:
    delta-aminolevulinate dehydratase,cytosolic enzyme catalyzing porphibilinogen formation,second step of porphyrin
    biosynthesis

         Enzyme Number (IUBMB): EC 4.2.1.241 2

         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:0003824catalytic activity TAS2063868
    GO:0004655porphobilinogen synthase activity TAS--
    GO:0008270zinc ion binding IDA11032836
    GO:0032791lead ion binding IDA11032836
    GO:0042802identical protein binding IPI11032836
         
    ALAD for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALAD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALAD

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

    miRNA
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    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate ALAD (see all 34):
    hsa-miR-640 hsa-miR-330-5p hsa-miR-15a hsa-miR-4267 hsa-miR-424 hsa-miR-9 hsa-miR-629 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidALAD 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAD


    (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 ALAD 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 ALAD
        Heme Biosynthesis
    tetrapyrrole biosynthesis II (from glycine)
    superpathway of heme biosynthesis from glycine

    3        Reactome Pathways for ALAD
        Metabolism of porphyrins
    Heme biosynthesis
    Metabolism


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

    UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716
    Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from
    5-aminolevulinate: step 1/4


    ALAD for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/37 Interacting proteins for ALAD (P137163 ENSP000003862844) via UniProtKB, MINT, STRING, and/or I2D (see all 37)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNB1Q149743, ENSP000002901584I2D: score=5 STRING: ENSP00000290158
    HMBSP083973, ENSP000002787154I2D: score=2 STRING: ENSP00000278715
    AMPD2Q014333, ENSP000002565784I2D: score=1 STRING: ENSP00000256578
    FEN1P397483, ENSP000003054804I2D: score=1 STRING: ENSP00000305480
    URODP061323, ENSP000002463374I2D: score=2 STRING: ENSP00000246337
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006779porphyrin-containing compound biosynthetic process ----
    GO:0006782protoporphyrinogen IX biosynthetic process IEA--
    GO:0006783heme biosynthetic process TAS--
    GO:0033014tetrapyrrole biosynthetic process ----

    ALAD 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

    ALAD for compounds           About GeneDecksing

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

    Browse Tocris compounds for ALAD (HEM2)

    3 HMDB Compounds for ALAD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Formyl-CoAFormyl coenzyme A 13131-49-2--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Porphobilinogen5-(aminomethyl)-4-(carboxymethyl)-Pyrrole-3-propionate (see all 4)487-90-1--

    8 DrugBank Compounds for ALAD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Aminolevulinic acid5-Aminolevulinic acid (see all 4)106-60-5targetinducer12107644 12079382 10879826 11906825 10519994 11752352 10812836
    Delta-Amino Valeric Acid-- --target--17139284 17016423 10592235
    Laevulinic Acid-- 123-76-2target--17139284 17016423 10592235
    Porphobilinogen2-aminomethylpyrrol-3-acetic acid 4-propionic acid (see all 3)487-90-1target--17139284 17016423 10592235
    3-(2-Aminoethyl)-4-(Aminomethyl)Heptanedioic Acid-- --target--17139284 17016423
    5-hydroxyvaleric acid5-hydroxy valeric acid (see all 7)13392-69-3target--16131755 10592235
    4,7-Dioxosebacic Acid-- --target--10592235
    4-Oxosebacic Acid-- --target--10592235

    10/53 Novoseek inferred chemical compound relationships for ALAD gene (see all 53)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-aminolevulinic acid 96.6 459 8720283 (6), 1814648 (5), 2061546 (5), 10940976 (4) (see all 99)
    porphobilinogen 94 100 1892953 (4), 11032841 (3), 1346974 (2), 11032836 (2) (see all 46)
    lead 88.1 536 11049814 (6), 11237505 (6), 12896855 (5), 9353844 (5) (see all 99)
    succinylacetone 87.8 19 11545591 (2), 19597542 (1), 15498530 (1), 2359685 (1) (see all 10)
    zinc protoporphyrin 87.3 72 2248552 (4), 7897696 (3), 19733117 (3), 11413692 (3) (see all 22)
    protoporphyrin ix 76.1 37 8699556 (2), 2319333 (2), 19789817 (2), 7749999 (1) (see all 20)
    diphenyldiselenide 75.6 9 18804525 (3), 16364531 (1)
    uroporphyrin i 73.2 2 8174759 (1), 2319333 (1)
    dmsa 65.6 10 15016592 (2), 11800328 (1), 12499112 (1), 9124882 (1) (see all 6)
    porphyrin 65.6 7 1814648 (1), 9732973 (1), 11504449 (1), 10666591 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about ALAD / HEM2

    (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,
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    About This Section

    REFSEQ mRNAs for ALAD gene (2 alternative transcripts): 
    NM_000031.5  NM_001003945.1  

    Unigene Cluster for ALAD:

    Aminolevulinate dehydratase
    Hs.1227  [show with all ESTs]
    Unigene Representative Sequence: AK131490
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409155(uc011lxe.2 uc011lxf.2) ENST00000482847(uc004bhl.4)
    ENST00000468504 ENST00000464749 ENST00000448137 ENST00000482001 ENST00000452726
    ENST00000494848 ENST00000445750 ENST00000277315
    miRNA
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    hsa-miR-640 hsa-miR-330-5p hsa-miR-15a hsa-miR-4267 hsa-miR-424 hsa-miR-9 hsa-miR-629 hsa-miR-326
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALAD

    Additional mRNA sequence: 

    AK131490.1 AK290490.1 AK295945.1 AK312552.1 BC000977.3 BC128443.1 M13928.1 S99468.1 
    S99471.1 

    17 DOTS entries:

    DT.414271  DT.100711968  DT.121153503  DT.121153528  DT.100787710  DT.101966724  DT.100787711  DT.91844029 
    DT.100787712  DT.121153515  DT.121153519  DT.121153520  DT.424452  DT.92067816  DT.100674277  DT.91677266 
    DT.91771238 

    24/141 AceView cDNA sequences (see all 141):

    AI908103 BF446229 BQ923725 AW449465 BC000977 BU625796 AL118842 AW817066 
    AV653915 BM662721 BM463750 AK131490 NM_001003945 CF887168 BQ447810 BX955509 
    BX104406 C21253 CF527855 CA391429 NM_000031 AA720970 AI536541 N94485 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for ALAD (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^
    SP1:              -     -     -     -     -     -                 -     -     -                             -                                                   
    SP2:              -     -     -     -     -     -                 -     -                                   -                                                   
    SP3:              -     -     -     -     -     -                 -     -     -                             -                                                   
    SP4:              -           -     -     -     -                 -     -     -                             -                                                   
    SP5:              -     -     -     -     -     -                 -     -     -                             -                                                   

    ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:              -                     
    SP2:              -                     
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for ALAD

    (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

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


    ALAD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
     
     Hair
             hair follicle sub-bulge   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Brain (Nervous System)
             lateral substantia nigra   
     
     Dermis (Integumentary System)
             hair follicle sub-bulge   

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

    SOURCE GeneReport for Unigene cluster: Hs.1227
        SABiosciences Expression via Pathway-Focused PCR Array including ALAD: 
              Drug Metabolism in human mouse rat

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    (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 ALAD gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alad1 , 5 aminolevulinate, delta-, dehydratase1, 5 87.17(n)1
    89.09(a)1
      4 (33.17 cM)5
    170251  NM_008525.31  NP_032551.31 
     625091695 
    chicken
    (Gallus gallus)
    Aves ALAD1 aminolevulinate dehydratase 75.25(n)
    78.48(a)
      417274  XM_003642250.1  XP_003642298.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALAD6
    aminolevulinate dehydratase
    73(a)
    1 ↔ 1
    AAWZ02036331(468-10480)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.103362 Xenopus laevis transcribed sequence with moderate similarity more 76.12(n)    BX854822.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.131932 Transcribed sequence with weak similarity to protein more 73.73(n)    CK352333.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103353
    Pbgs1
    porphobilinogen synthase3
    Porphobilinogen synthase1
    61(a)3
    62.55(n)1
    62.34(a)1
      69A43
    394021  NM_140307.31  NP_648564.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM21 Hem2p 52.37(n)
    54.01(a)
      852842   NP_011475.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.60382 Glycine max delta-aminolevulinic acid dehydratase (Alad) more 74.84(n)    U04525.1 


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

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

    (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

    UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716
    Polymorphism: There are two common alleles of ALAD. Individuals heterozygous or homozygous for ALAD*2 Asn-59 have
    significantly higher blood lead levels than do ALAD*1 Lys-59 homozygotes when exposed to environmental lead


    10/446 SNPs in ALAD are shown (see all 446)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0036364
    Acute hepatic porphyria (AHEPP)4--see VAR_0036362 A T mis40--------
    VAR_0036354
    Acute hepatic porphyria (AHEPP)4--see VAR_0036352 R W mis40--------
    VAR_0209744
    Acute hepatic porphyria (AHEPP)4--see VAR_0209742 V M mis40--------
    VAR_0036374
    Acute hepatic porphyria (AHEPP)4--see VAR_0036372 V M mis40--------
    VAR_0036344
    Acute hepatic porphyria (AHEPP)4--see VAR_0036342 G R mis40--------
    rs18004351,2,4
    C,F,Hnon-pathogenic1116165641(-) GTGAAG/CCGGCT 2 /N /K mis1 ese321Minor allele frequency- C:0.07NA MN NS EA EU 7436
    rs1219129841,2
    Cpathogenic1116167554(-) TACTTC/GCACCC 2 F L mis10--------
    VAR_0209734
    ----see VAR_0209732 F L mis40--------
    rs81777901,2
    C,F--116156877(-) TTTTT-/GTCTAT 1 -- int1 trp32Minor allele frequency- G:0.11NS CSA 136
    rs1122971951,2
    C,F--116158425(+) GAGCCG/AAGATC 1 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ALAD (116148592 - 116163618 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALAD:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv825053CNV Loss20364138
    nsv893744CNV Gain21882294


    Human Gene Mutation Database (HGMD): ALAD
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ALAD

    (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: 125270   
    OMIM disorders: 612740  
    UniProtKB/Swiss-Prot: HEM2_HUMAN, P13716
  • Acute hepatic porphyria (AHEPP) [MIM:612740]: 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. AHP is characterized by attacks of gastrointestinal disturbances, abdominal
    colic, paralyses 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

  • 20/40 diseases for ALAD (see all 40):    About MalaCards
    lead poisoning    acute hepatic porphyria    chronic hepatic porphyria    aminolevulinate dehydratase deficiency porphyria
    cutaneous porphyria    acute intermittent porphyria    hypochromic anemia    acute porphyria
    variegate porphyria    porphyria    tyrosinemia type i    porphyria cutanea tarda
    tyrosinemia    fanconi syndrome    uremia    nephrosclerosis
    essential tremor    tremor    hepatitis    hyperhomocysteinemia

    7 diseases from the University of Copenhagen DISEASES database for ALAD:
    Acute intermittent porphyria     Tyrosinemia     Hereditary coproporphyria     Porphyria cutanea tarda
    Variegate porphyria     Anemia     Erythropoietic protoporphyria

    ALAD for disorders           About GeneDecksing

    10/26 Novoseek inferred disease relationships for ALAD gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porphyria 85.5 62 17236137 (4), 9516683 (3), 10211628 (3), 15303011 (3) (see all 23)
    porphyria hepatic 83.9 15 8100994 (3), 2222472 (2), 1905639 (1), 8292661 (1) (see all 8)
    porphyria acute intermittent 75.8 6 8292661 (1), 8845420 (1), 7616649 (1), 10604794 (1) (see all 6)
    coproporphyria hereditary 74.7 1 8292661 (1)
    porphyria, congenital erythropoietic 73.7 1 7616649 (1)
    porphyria variegate 72.8 3 8292661 (1), 19389274 (1), 12809070 (1)
    tyrosinemias 66.8 1 2359685 (1)
    poisoning 65.1 32 10644722 (2), 12411083 (2), 8105909 (2), 11032836 (1) (see all 19)
    tyrosinemia type i 62.1 3 7616655 (1), 11468232 (1)
    porphyria cutanea tarda 61.4 4 8292661 (1), 8845420 (1), 7616649 (1), 8100994 (1)

    Genatlas disease: ALAD
    porphyria,acute,hepatic

    Genetic Association Database (GAD): ALAD
    Human Genome Epidemiology (HuGE) Navigator: ALAD (59 documents)

    Export disorders for ALAD 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 ALAD gene, integrated from 9 sources (see all 311):
    (articles sorted by number of sources associating them with ALAD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity. (PubMed id 10519994)1, 2, 7, 9 Akagi R.... Sassa S. (1999)
    2. Allosteric inhibition of human porphobilinogen synthase. (PubMed id 19812033)1, 2, 9 Lawrence S.H.... Jaffe E.K. (2009)
    3. Delta-aminolevulinic Acid dehydratase genotype and it s relationship with blood lead and zinc protoporphyrin levels in lead-exposed c hildren living in a smelter community in northern Mexico. (PubMed id 20021040)1, 4, 9 Mijares I.A....GarcA-a-Vargas G.G. (2006)
    4. A delta-aminolevulinic acid dehydratase (ALAD) polymorphism may modify the relationship of low-level lead exposure to uricemia and renal function: the normative aging study. (PubMed id 12611663)1, 4, 9 Wu M.T....Hu H. (2003)
    5. Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. (PubMed id 10706561)1, 2, 9 Akagi R.... Sassa S. (2000)
    6. Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. (PubMed id 1569184)1, 2, 9 Ishida N....Sassa S. (1992)
    7. Lack of association of delta-aminolevulinic acid dehydratase genotype with blood lead levels in environmentally exposed children of Uygur and Han populations. (PubMed id 18795909)1, 4, 9 Chen Y....Tian W. (2008)
    8. Interaction of the delta-aminolevulinic acid dehydratase polymorphism and lead burden on cognitive function: the VA normative aging study. (PubMed id 18784554)1, 4, 9 Rajan P....Wright R.O. (2008)
    9. Association between delta-aminolevulinic acid dehydratase (ALAD) polymorphism and blood lead levels: a meta-regression analysis. (PubMed id 17966070)1, 4, 9 Zhao Y....Chen F. (2007)
    10. Ethnicity affects the distribution of delta-aminolevulinic acid dehydratase (ALAD) genetic variants. (PubMed id 16445899)1, 4, 9 Montenegro M.F....Tanus-Santos J.E. (2006)

    (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: 210 HGNC: 395 AceView: ALAD Ensembl:ENSG00000148218 euGenes: HUgn210
    ECgene: ALAD Kegg: 210 H-InvDB: ALAD

    (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 ALAD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALAD
    NIEHS-SNPshttp://egp.gs.washington.edu/data/alad/

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

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



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