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HAL Gene

protein-coding   GIFtS: 60

GC12M094869
histidine ammonia-lyase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HIS)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 4.3.1.3 3
HIS 2, 3
HSTD 2, 5
Histidase 3
histidase 2
Descriptions
histidine ammonia-lyase 2
External Ids
HGNC: 48061
Entrez Gene: 30342
UniProtKB: P423573
Ensembl: ENSG000000841107
Search outside databases for aliases for HAL gene

Previous GC identifers: GC12M095787 GC12M096730 GC12M096300

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for HAL:
Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine
catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine
ammonia-lyase defects cause histidinemia which is characterized by increased histidine and
histamine and decreased urocanic acid in body fluids [provided by RefSeq]

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the HAL gene  

Entrez Gene cytogenetic band: 12q22-q24.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q22-q24.1

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

GeneLoc gene densities for chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M094869:     (about GC identifiers)

Start:
94,891,273 bp from pter
End:
94,914,202 bp from pter
Size:
22,930 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000012.10  NT_019546.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357 (See protein sequence)
Recommended Name: Histidine ammonia-lyase  
Size: 657 amino acids; 72698 Da
Secondary accessions: Q4VB92

Post-translational modifications:

  • Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by
    cyclization and dehydration of residues Ala-Ser-Gly (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_002099.1  

    ENSEMBL proteins: 
    ENSP00000261208 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Histidase)
    Human Recombinant Proteins from Abnova (HAL)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625 soluble fraction IEA--
    GO:0005737 cytoplasm IEA--
    GO:0005829 cytosol EXP15806399
    About this table

    Antibodies for HAL: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for HAL
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Histidase), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (HAL)
    Novus Biologicals Antibodies for HAL

    Assays for HAL: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    2 InterPro domains/families:
     IPR001106 Phe/His_NH3-lyase
     IPR005921 HutH


       GeneDecks  HAL for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P42357

    ProtoNet protein and cluster: P42357

    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357
    Similarity: Belongs to the PAL/histidase family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002108

                  Applied Biosystems Silencer® siRNAs for HAL

                  Sigma-Aldrich siRNA for HAL  
                         Sigma-Aldrich shRNA for HAL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for HAL
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002108
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002108
                                     untagged cDNA clone in CMV expression vector: NM_002108 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002108

    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357
    Catalytic activity: L-histidine = urocanate + NH(3)
    Enzyme Number (IUBMB): EC 4.3.1.3 

    Genatlas biochemistry entry for HAL:
    histidine ammonia lyase (histidase),histidine catabolism
    2 MGI phenotypic alleles for Hal (no phenotypes)

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004397 histidine ammonia-lyase activity IEA--
    GO:0016211 ammonia ligase activity IEA--
    GO:0016829 lyase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for HAL (Maps provided by GeneGo):
     Histidine, proline, glutamate and glutamine metabolism

       GeneDecks  HAL for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  HAL  (Your Favorite Gene powered by Ingenuity) 
     Nitrogen Metabolism
     Histidine Metabolism

       GeneDecks  HAL for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for HAL):
     hsa00340 Histidine metabolism
     hsa00910 Nitrogen metabolism

       GeneDecks  HAL for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357
    Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate;
    N-formimidoyl-L-glutamate from L-histidine: step 1/3

    2 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006548 histidine catabolic process IEA--
    GO:0009058 biosynthetic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for HAL
    8 Novoseek chemical compound relationships for HAL gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    urocanic acid 90.58 13 1943682 (2), 18641401 (1), 15806399 (1), 8530107 (1) (see all 7)
    histidinol-phosphate 85.54 2 1537807 (1), 8507666 (1)
    dehydroalanine 85.39 3 1537807 (1), 1943682 (1), 12686130 (1)
    histidine 79.94 51 8507666 (4), 1902841 (3), 1618765 (3), 11457276 (2) (see all 25)
    phenylalanine 62.52 10 1537807 (1), 15906398 (1), 2124955 (1), 12686130 (1) (see all 6)
    cinnamic acid 57.43 2 17191848 (1), 8947915 (1)
    hydrogen 3.90 4 17191848 (1), 1902841 (1), 1618765 (1)
    tyrosine 0.00 3 2124955 (1), 17185227 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (HAL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (HAL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002108

                  Sigma-Aldrich siRNA for HAL  
                         Sigma-Aldrich shRNA for HAL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002108  

    REFSEQ mRNAs for HAL gene: 

    NM_002108.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002108  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_002108
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_002108
                                     untagged cDNA clone in CMV expression vector: NM_002108 

    Additional cDNA sequence: 

    AK297004.1 AK298736.1 AK303544.1 BC096096.1 BC096097.3 BC096098.3 BC096099.1 D16626.1 

    6 DOTS entries:

    DT.453679  DT.40105879  DT.95162338  DT.99956019  DT.70102504  DT.115837 

    24/51 AceView cDNA sequences (see all 51 ):

    CB156949 AV683598 BX089267 D16626 C01635 AA778922 NM_002108 AL596896 
    BU739014 CB153364 BX506683 N76272 CB161424 CB115673 N55360 BM713716 
    AL601504 BX643395 BX422319 AL597111 CB162549 AI249025 AL597387 AI248003 

    highest scoring ESTs for HAL:

    AL596896 AL597111 AL597387 AL601504 D16626 AI033058 AI140162 AI249025 AV655741 AV688965 

    Unigene Cluster for HAL:

    Histidine ammonia-lyase
    Hs.190783  [show with all ESTs]
    Unigene Representative Sequence: NM_002108


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for HAL

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^
    SP1:                                                        -                                                                                               -   
    SP2:                                                  -     -                                                           -                                   -   
    SP3:                                                  -                                                                                                         
    SP4:                                                                                                                                                            

    ExUns: 22a · 22b
    SP1:            
    SP2:            
    SP3:            
    SP4:            

    About this scheme

    ECgene alternative splicing isoforms for HAL

    1 Ensembl transcript including schematic representation:
    ENST00000261208  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    HAL expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for HAL

    1 / 2 / 3

    3 probe-sets matching HAL gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    56905_at2, 3 U95-C 1 0.56 1.00 1.00 1.00 AI249025 0.60 1.00 0.82 1

    206643_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002108 0.60 1.00 0.82 1

    206643_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  HAL for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.190783

    Expression variation in blood from EXPOLDB for HAL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for HAL gene from 5/12 species (see all 12 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    HAL1   -- histidine ammonia-lyase 90.01(n)
    94.98(a)
    475433  XM_532657.2  XP_532657.2 
    chimpanzee
    (Pan troglodytes)
    HAL1   -- histidine ammonia-lyase 99.29(n)
    99.09(a)
    452144  XM_509282.2  XP_509282.2 
    cow
    (Bos taurus)
    HAL1   -- histidine ammonia-lyase 90.01(n)
    95.13(a)
    615205  XM_866946.2  XP_872039.1 
    rat
    (Rattus norvegicus)
    Hal1   -- histidine ammonia lyase 87.67(n)
    93.91(a)
    29301  NM_017159.1  NP_058855.1 
    mouse
    (Mus musculus)
    Hal1, 5 10 (51.00 cM)5
    histidine ammonia lyase1, 5 87.42(n)1
    93.76(a)1
    151091  NM_010401.31  NP_034531.11 
     AK0145185  AK0173975  (see all 10)
    About this table        Species with no ortholog for HAL

    ENSEMBL Gene Tree for HAL
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/196 NCBI SNPs in HAL are shown (see all 196 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 116)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 12 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs20706141,2
    A,C,F,H,O94914467(-) GTCAGA/GGTGGT 1 -- ng318Minor allele frequency- G:0.49EU EA WA NA 632
    rs10598451,2
    A,C,F,H94890829(-) TATTCC/TTTGTC 1 -- ng514Minor allele frequency- T:0.50MN EU EA 484
    rs71349751,2
    A,C,F,H94914551(+) ATTACC/ACTGTA 1 -- ng3112Minor allele frequency- A:0.08EU EA WA NS NA 664
    rs108599991,2
    A,C,F,H94915465(+) TTACTT/CTAGTC 1 -- ng3115Minor allele frequency- C:0.49EU EA WA NA 1394
    rs79705241,2
    A,C,F,H94914283(+) TTCTGT/CGGGCC 1 -- ng3111Minor allele frequency- C:0.10EU EA WA NA 980
    rs22308851,2
    A,C,F,H94892031(-) TGTATC/AATTCA 1 -- ut31 ese317Minor allele frequency- A:0.19MN EU EA WA NA 1636
    rs79560141,2
    A,C,F,H94914736(+) agtatA/Gtatgt 1 -- ng314Minor allele frequency- G:0.04EU EA WA 412
    rs71348601,2
    A,C,F,H94914489(+) GGGCTC/AAGACA 1 -- ng3112Minor allele frequency- A:0.07EU EA WA NS NA 656
    rs111083691,2
    C,F,H94914032(+) GCAGGG/TGATGC 1 -- ut51 ese34Minor allele frequency- T:0.04EU EA WA 406
    rs72972451,2
    C,F,H94898745(+) AGAAAT/CTGTCT 1 I/V mis1 ese39Minor allele frequency- C:0.28EU EA WA NA 892
    About this table

    HapMap Linkage Disequilibrium images for HAL (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 609457   disorders: 235800  

    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357

  • Defects in HAL are the cause of histidinemia [MIM:235800]. It is an autosomal recessive
    disease characterized by increased histidine and histamine as well as decreased urocanic acid in
    body fluids
  • 1 Novoseek disease relationship for HAL gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    histidinemia 97.23 14 15806399 (2), 2055114 (2), 8530107 (2), 2347667 (1) (see all 7)
    About this table

    Genatlas disease: HAL
    histidinemia

    Human Gene Mutation Database: HAL
    Genetic Association Database: HAL
    Human Genome Epidemiology Navigator: HAL (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/42 PubMed articles for HAL gene (see all 42 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 3034 HGNC: 4806 AceView: HAL Ensembl:ENSG00000084110 euGenes: HUgn3034
    ECgene: HAL H-InvDB: HAL
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=HAL
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for HAL:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for HAL-related products

     Millipore Custom Antibody & Bulk Services
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     Predesigned and custom siRNAs for HAL Antibodies for HAL
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for HAL Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for HAL

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