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ALAD Gene

protein-coding   GIFtS: 65
GCID: GC09M116148

Aminolevulinate Dehydratase

(Previous names: aminolevulinate, delta-, dehydratase)
  See ALAD-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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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 acute hepatic porphyria, and lead poisoning. GO annotations related to this gene include lead ion binding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for ALAD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALAD (P13716) (see all 11)
     LIYPIFV  YSAKFAS  GPFRDAA  LLRKTFP 


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

    REFSEQ proteins: NP_000022.3  
    ENSEMBL proteins: 
     ENSP00000386284   ENSP00000392748   ENSP00000415737   ENSP00000398438   ENSP00000277315  
    Reactome Protein details: P13716

    ALAD Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals ALAD Proteins
    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

     
    Search eBioscience for Proteins for ALAD 

     
    antibodies-online proteins for ALAD (9 products) 

     
    antibodies-online peptides for ALAD

    ALAD Antibody Products:

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    antibodies-online antibodies for ALAD (35 products) 

    ALAD Assay Products:

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    antibodies-online kits for ALAD (24 products) 


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


    Find genes that share domains with ALAD           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: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with ALAD           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ALAD

    miRNA
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    miRTarBase miRNAs that target ALAD:
    hsa-mir-19b-3p (MIRT050633), hsa-mir-142-3p (MIRT021588)

    Block miRNA regulation of human, mouse, rat ALAD using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for ALAD
    Search Predesigned siRNA for gene silencing in human, mouse, rat ALAD

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ALAD (NM_000031)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALAD

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALAD


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    chloroplast2
    mitochondrion2
    nucleus1
    peroxisome1

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

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

    Find genes that share ontologies with ALAD           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 ALAD 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 ALAD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for ALAD
        Heme Biosynthesis
    tetrapyrrole biosynthesis
    heme biosynthesis


    1 Reactome Pathway for ALAD
        Heme biosynthesis


    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

        Pathway & Disease-focused RT2 Profiler PCR Array including ALAD: 

              Drug Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALAD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for ALAD (P137163 ENSP000003862844) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMBSP083973, ENSP000002787154I2D: score=2 STRING: ENSP00000278715
    URODP061323, ENSP000002463374I2D: score=2 STRING: ENSP00000246337
    MSMO1Q158003, ENSP000002615074I2D: score=1 STRING: ENSP00000261507
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    CLPXO760313, ENSP000003001074I2D: score=1 STRING: ENSP00000300107
    About this table

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

    Find genes that share ontologies with ALAD           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 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

    Selected 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)



    Find genes that share compounds with ALAD           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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    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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    Selected qRT-PCR 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
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ALAD
      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 

    Selected AceView cDNA sequences (see all 141):

    AW449465 BM662721 CF887168 CA391429 NM_000031 BX104406 BU625796 AI908103 
    AK131490 BM463750 AV653915 BF446229 AL118842 BX955509 AA720970 NM_001003945 
    BQ923725 CF527855 BC000977 AW817066 BQ447810 AI536541 C21253 AI057369 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    ALAD expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Heart (Cardiovascular System)
             Cardiac Crescent Cells Cardiac Crescent
    ALAD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALAD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1227
        Pathway & Disease-focused RT2 Profiler 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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ALAD gene from Selected species (see all 24)    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_008525.41  NP_032551.31 
     625091695 
    chicken
    (Gallus gallus)
    Aves HDHD31 haloacid dehalogenase-like hydrolase domain containing more 75.25(n)
    78.48(a)
      417273  XM_004945763.1  XP_004945820.1 
    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
    62.38(n)1
    61.76(a)1
      69A43
    394021  NM_140307.41  NP_648564.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM21 HEM2 52(n)
    53.85(a)
      852842   NP_011475.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HEMB11 HEMB1 49.39(n)
    42.19(a)
      843310  NM_001084331.2  NP_001077800.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g07046001 Os06g0704600 49.84(n)
    42.39(a)
      4341997  NM_001065045.1  NP_001058510.1 


    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)
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    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    HEM2_HUMAN, P13716: 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


    Selected SNPs for ALAD (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--------
    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
    rs112990291,2
    C--116158669(+) AAAAA-/AAAAAA 1 -- int1 trp31Minor 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALAD
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 18 diseases for ALAD:    
    About MalaCards
    acute hepatic porphyria    lead poisoning    chronic hepatic porphyria    hypochromic anemia
    cutaneous porphyria    fanconi syndrome    tyrosinemia type i    hereditary coproporphyria
    variegate porphyria    tyrosinemia    porphyria    porphyria cutanea tarda
    uremia    acute porphyria    acute intermittent porphyria    erythropoietic protoporphyria
    amyotrophic lateral sclerosis    malaria

    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

    Find genes that share disorders with ALAD           About GenesLikeMe

    Selected 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)
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    PubMed articles for ALAD gene, integrated from 10 sources (see all 312):
    (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. (Br. J. Haematol. 1999)
    2. Allosteric inhibition of human porphobilinogen synthase. (PubMed id 19812033)1, 2, 9 Lawrence S.H.... Jaffe E.K. (J. Biol. Chem. 2009)
    3. Delta-aminolevulinic Acid dehydratase genotype and its relationship with blood lead and zinc protoporphyrin levels in lead-exposed children living in a smelter community in northern Mexico. (PubMed id 20021040)1, 4, 9 Mijares I.A....GarcA-a-Vargas G.G. (Toxicol. Mech. Methods 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. (Environ. Health Perspect. 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. (Hepatology 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. (J. Clin. Invest. 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. (Acta Paediatr. 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. (J. Occup. Environ. Med. 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. (J. Toxicol. Environ. Health Part A 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. ( international journal of clinical chemistry 2006)

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

    (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 ALAD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALAD[genesymbol]
    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.)
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    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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