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Index > Protein center > ALAD(Gene name) > Human
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  • ALAD (Gene name),
  • Delta-aminolevulinic acid dehydratase (Protein name ),  HEM2_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    ALAD;
    Protein name:
    Delta-aminolevulinic acid dehydratase(ALADH);
    Alternative:
    Porphobilinogen synthase;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homooctamer; active form. Homohexamer; low activity form.
    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.
    Subcellular Location:
    Protein Attributes:
    Sequence length:
    330
    Sequence:
    50:
    MQPQSVLHSG | YFHPLLRAWQ | TATTTLNASN | LIYPIFVTDV | PDDIQPITSL | 
    100:
    PGVARYGVKR | LEEMLRPLVE | EGLRCVLIFG | VPSRVPKDER | GSAADSEESP | 
    150:
    AIEAIHLLRK | TFPNLLVACD | VCLCPYTSHG | HCGLLSENGA | FRAEESRQRL | 
    200:
    AEVALAYAKA | GCQVVAPSDM | MDGRVEAIKE | ALMAHGLGNR | VSVMSYSAKF | 
    250:
    ASCFYGPFRD | AAKSSPAFGD | RRCYQLPPGA | RGLALRAVDR | DVREGADMLM | 
    300:
    VKPGMPYLDI | VREVKDKHPD | LPLAVYHVSG | EFAMLWHGAQ | AGAFDLKAAV | 
    330:
    LEAMTAFRRA | GADIIITYYT | PQLLQWLKEE | 
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    SMR:
    Pfam:
    UniGene:
    String:
    KEGG:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human ALADH
    Cat.:
    E2082h
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human ALADH
    Cat.:
    E2082r
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human ALADH
    Cat.:
    E2082m
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human ALADH
    Cat.:
    E2082b
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human ALADH
    Cat.:
    U2082b
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human ALADH
    Cat.:
    U2082r
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human ALADH
    Cat.:
    U2082m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human ALADH
    Cat.:
    U2082h
    Price:
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human ALADH
    Cat.:
    P2082Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human ALADH
    Cat.:
    P2082Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human ALADH
    Polyclonal Antibody for Human ALADH
    Cat.:
    P2082Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human ALADH
    Monoclonal Antibody for Human ALADH
    Monoclonal Antibody for Human ALADH
    Monoclonal Antibody for Human ALADH
    Protein for Human ALADH
    Protein for Human ALADH
    Protein for Human ALADH
    Protein for Human ALADH

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    References
    1. 1.
      "Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone."
      Wetmur J.G. , Bishop D.F. , Cantelmo C. , Desnick R.J.
      Proc. Natl. Acad. Sci. U.S.A.83:7703-7707(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
    2. 2.
      "RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34."
      Wetmur J.G.
      Nucleic Acids Res.19:4307-4307(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
      tissue: Liver.
    3. 3.
      "Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria."
      Ishida N. , Fujita H. , Fukuda Y. , Noguchi T. , Doss M. , Kappas A. , Sassa S.
      J. Clin. Invest.89:1431-1437(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANTS AHEPP TRP-240 AND THR-274
    4. 4.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)
      tissue: Brain.
      tissue: Tongue.
    5. 5.
      NIEHS SNPs program
      Submitted (2003-06) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ASN-59
    6. 6.
      "DNA sequence and analysis of human chromosome 9."
      Humphray S.J. , Oliver K. , Hunt A.R. , Plumb R.W. , Loveland J.E. , Howe K.L. , Andrews T.D. , Searle S. , Hunt S.E. , Scott C.E. , Jones M.C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Ashwell R.I.S. , Babbage A.K. , Babbage S. , Bagguley C.L. , more...
      Nature429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    7. 7.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
      tissue: Placenta.
    8. 8.
      "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."
      Gevaert K. , Goethals M. , Martens L. , Van Damme J. , Staes A. , Thomas G.R. , Vandekerckhove J.
      Nat. Biotechnol.21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 1-17
      tissue: Platelet.
    9. 9.
      "Identification of lysine at the active site of human 5-aminolevulinate dehydratase."
      Gibbs P.N.B. , Jordan P.M.
      Biochem. J.236:447-451(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACTIVE SITE
    10. 10.
      "The molecular mechanism of lead inhibition of human porphobilinogen synthase."
      Jaffe E.K. , Martins J. , Li J. , Kervinen J. , Dunbrack R.L. Jr.
      J. Biol. Chem.276:1531-1537(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ENZYME REGULATION;FUNCTION;CATALYTIC ACTIVITY;BIOPHYSICOCHEMICAL PROPERTIES;COFACTOR;IDENTIFICATION BY MASS SPECTROMETRY;MUTAGENESIS OF CYS-122; CYS-124; HIS-131; CYS-132 AND CYS-223
    11. 11.
      "Allosteric inhibition of human porphobilinogen synthase."
      Lawrence S.H. , Ramirez U.D. , Selwood T. , Stith L. , Jaffe E.K.
      J. Biol. Chem.284:35807-35817(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;CATALYTIC ACTIVITY;SUBUNIT;ENZYME REGULATION
    12. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    13. 13.
      "The crystal structure of human Ala-dehydratase."
      Mills-Davies N.L. , Thompson D. , Cooper J.B. , Shoolingin-Jordan P.M.
      Submitted (1998-10) to the PDB data bank
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.83 ANGSTROMS) IN COMPLEX WITH PORPHOBILINOGEN AND ZINC IONS
    14. 14.
      "Control of tetrapyrrole biosynthesis by alternate quaternary forms of porphobilinogen synthase."
      Breinig S. , Kervinen J. , Stith L. , Wasson A.S. , Fairman R. , Wlodawer A. , Zdanov A. , Jaffe E.K.
      Nat. Struct. Biol.10:757-763(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF MUTANT LEU-12 IN COMPLEX WITH SUBSTRATE ANALOG;SUBUNIT;IDENTIFICATION BY MASS SPECTROMETRY;CATALYTIC ACTIVITY;ENZYME REGULATION
    15. 15.
      "Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning."
      Wetmur J.G. , Kaya A.H. , Plewinska M. , Desnick R.J.
      Am. J. Hum. Genet.49:757-763(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-59
    16. 16.
      "Delta-aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote."
      Plewinska M. , Thunell S. , Holmberg L. , Wetmur J.G. , Desnick R.J.
      Am. J. Hum. Genet.49:167-174(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AHEPP ARG-133 AND MET-275
    17. 17.
      "Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease."
      Sassa S. , Ishida N. , Fujita H. , Fukuda Y. , Noguchi T. , Doss M. , Kappas A.
      Trans. Assoc. Am. Physicians105:250-259(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AHEPP TRP-240 AND THR-274;CHARACTERIZATION OF VARIANTS AHEPP TRP-240 AND THR-274
    18. 18.
      "A novel mutation of delta-aminolaevulinate dehydratase in a healthy child with 12% erythrocyte enzyme activity."
      Akagi R. , Yasui Y. , Harper P. , Sassa S.
      Br. J. Haematol.106:931-937(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LEU-12;CHARACTERIZATION OF VARIANT LEU-12
    19. 19.
      "Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria."
      Akagi R. , Shimizu R. , Furuyama K. , Doss M.O. , Sassa S.
      Hepatology31:704-708(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AHEPP MET-153;CHARACTERIZATION OF VARIANT AHEPP MET-153
    20. 20.
      "Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient."
      Akagi R. , Inoue R. , Muranaka S. , Tahara T. , Taketani S. , Anderson K.E. , Phillips J.D. , Sassa S.
      Br. J. Haematol.132:237-243(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LEU-12
    21. 21.
      "ALAD porphyria is a conformational disease."
      Jaffe E.K. , Stith L.
      Am. J. Hum. Genet.80:329-337(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS AHEPP ARG-133; MET-153; TRP-240; THR-274 AND MET-275;CHARACTERIZATION OF VARIANTS LEU-12 AND ASN-59
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