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HAL Gene

protein-coding   GIFtS: 62
GCID: GC12M096366

Histidine Ammonia-Lyase


(Previous symbol: HIS)
  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)
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Aliases
Histidine Ammonia-Lyase1 2     histidase2
HIS1 2 3     Histidase3
EC 4.3.1.33 8     EC 4.3.18
HSTD2 5     

External Ids:    HGNC: 48061   Entrez Gene: 30342   Ensembl: ENSG000000841107   OMIM: 6094575   UniProtKB: P423573   

Export aliases for HAL gene to outside databases

Previous GC identifers: GC12M095787 GC12M096730 GC12M096300 GC12M094869 GC12M093429


(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 HAL Gene:
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. Several transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Apr 2012)

GeneCards Summary for HAL Gene:
HAL (histidine ammonia-lyase) is a protein-coding gene. Diseases associated with HAL include histidinemia, and cholelithiasis. GO annotations related to this gene include histidine ammonia-lyase activity.

Gene Wiki entry for HAL (Histidine ammonia-lyase) 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:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HAL gene promoter:
         GR   CREB   Sp1   deltaCREB   GR-alpha   Nkx2-5   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHAL promoter sequence
   Search Chromatin IP Primers for HAL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HAL


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

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)
HAL gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M096366:  view genomic region     (about GC identifiers)

Start:
96,366,440 bp from pter      End:
96,390,143 bp from pter
Size:
23,704 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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: B4DQC1 B4E0V8 F5GXF2 F5H1U5 Q4VB92 Q4VB93
Alternative splicing: 3 isoforms:  P42357-1   P42357-2   P42357-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HAL: NX_P42357

Explore proteomics data for HAL at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for HAL (P42357) (see all 16)
     LAKGYSG  VSGGNFH  NSATDNP  SGGNFHG 


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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001245262.1  NP_001245263.1  NP_002099.1  

    ENSEMBL proteins: 
     ENSP00000261208   ENSP00000439385   ENSP00000440861   ENSP00000447675   ENSP00000446678  
     ENSP00000450372   ENSP00000447543   ENSP00000446364  
    Reactome Protein details: P42357

    HAL Human Recombinant Protein Products:

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    OriGene Purified Protein for HAL
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    OriGene MassSpec for HAL
    OriGene Custom Protein Services for HAL
    GenScript Custom Purified and Recombinant Proteins Services for HAL
    Novus Biologicals HAL Protein
    Novus Biologicals HAL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HAL

    HAL Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HAL
    Novus Biologicals HAL Antibodies
    Abcam antibodies for HAL
    Cloud-Clone Corp. Antibodies for HAL
    Search ThermoFisher Antibodies for HAL
    LSBio Antibodies in human, mouse, rat for HAL

    HAL Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HAL
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HAL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HAL
    Cloud-Clone Corp. CLIAs for HAL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR022313 Phe/His_NH3-lyase_AS
     IPR005921 HutH
     IPR008948 L-Aspartase-like
     IPR001106 Aromatic_Lyase
     IPR024083 Fumarase/histidase_N

    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


    HAL 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HUTH_HUMAN, P42357
    Catalytic activity: L-histidine = urocanate + NH(3)

         Genatlas biochemistry entry for HAL:
    histidine ammonia lyase (histidase),histidine catabolism

         Enzyme Numbers (IUBMB): EC 4.3.1.31 2 EC 4.3.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004397histidine ammonia-lyase activity IEA--
    GO:0016841ammonia-lyase activity ----
         
    HAL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HAL:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Hal):
     homeostasis/metabolism  renal/urinary system 

    HAL for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HAL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HAL

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target HAL:
    hsa-mir-155-5p (MIRT020785)

    Block miRNA regulation of human, mouse, rat HAL using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HAL:
    hsa-miR-33a* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidHAL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HAL
    Predesigned siRNA for gene silencing in human, mouse, rat HAL

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

    Clone
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    OriGene clones in human, mouse for HAL (see all 7)
    OriGene ORF clones in mouse, rat for HAL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HAL (NM_002108)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAL

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HAL
    Browse ESI BIO Cell Lines and PureStem Progenitors for HAL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAL


    (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
    mitochondrion2
    nucleus2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    HAL for ontologies           About GeneDecksing


    (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 HAL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Histidine metabolism
    Histidine metabolism
    Histidine catabolism0.00
    3histidine degradation III
    histidine degradation III
    histidine degradation VI0.00
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for HAL
        histidine degradation III
    histidine degradation VI

    1 Reactome Pathway for HAL
        Histidine catabolism


    2 Kegg Pathways  (Kegg details for HAL):
        Histidine metabolism
    Metabolic pathways

    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


    HAL for pathways           About GeneDecksing

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

              Prostate Cancer in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HAL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for HAL (P423573 ENSP000002612084) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK1P284823, ENSP000002158324I2D: score=5 STRING: ENSP00000215832
    ATG101Q9BSB43I2D: score=1 
    SLC2A4P146723I2D: score=1 
    CNDP1ENSP000003516824STRING: ENSP00000351682
    CPS1ENSP000004026084STRING: ENSP00000402608
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006548histidine catabolic process TAS--
    GO:0009058biosynthetic process IEA--
    GO:0019556histidine catabolic process to glutamate and formamide IEA--
    GO:0019557histidine catabolic process to glutamate and formate IEA--
    GO:0034641cellular nitrogen compound metabolic process TAS--

    HAL for ontologies           About GeneDecksing



    (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 HAL (HUTH)

    3 HMDB Compounds for HAL    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    L-Histidine(S)-1H-Imidazole-4-alanine (see all 20)71-00-1--
    Urocanic acid3-(1H-Imidazol-4-yl)-2-propenoate (see all 12)104-98-3--

    1 DrugBank Compound for HAL    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Histidine(S)-4-(2-Amino-2-carboxyethyl)imidazole (see all 7)71-00-1target--17193285 17185227 17191848 17536021

    Selected Novoseek inferred chemical compound relationships for HAL gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    urocanic acid 90.4 13 1943682 (2), 18641401 (1), 15806399 (1), 8530107 (1) (see all 7)
    dehydroalanine 85 3 1537807 (1), 1943682 (1), 12686130 (1)
    histidinol-phosphate 84.9 2 1537807 (1), 8507666 (1)
    histidine 79.5 51 8507666 (4), 1902841 (3), 1618765 (3), 11457276 (2) (see all 25)
    phenylalanine 62 10 1537807 (1), 15906398 (1), 2124955 (1), 12686130 (1) (see all 6)
    cinnamic acid 56.6 2 17191848 (1), 8947915 (1)
    imidazole 34.9 1 1618765 (1)
    arginine 2.48 1 2124955 (1)
    hydrogen 2.41 4 17191848 (1), 1902841 (1), 1618765 (1)
    cysteine 1.38 2 8831970 (2)



    HAL for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HAL gene (3 alternative transcripts): 
    NM_001258333.1  NM_001258334.1  NM_002108.3  

    Unigene Cluster for HAL:

    Histidine ammonia-lyase
    Hs.190783  [show with all ESTs]
    Unigene Representative Sequence: NM_002108
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261208(uc001tem.1 uc009zti.1 uc010suw.1 uc010sux.1)
    ENST00000544080 ENST00000538703 ENST00000546999 ENST00000548808 ENST00000548636
    ENST00000552509 ENST00000551562 ENST00000549376 ENST00000546579 ENST00000541929

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat HAL using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate HAL:
    hsa-miR-33a* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidHAL 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HAL
    Predesigned siRNA for gene silencing in human, mouse, rat HAL
    Clone
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    OriGene clones in human, mouse for HAL (see all 7)
    OriGene ORF clones in mouse, rat for HAL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HAL (NM_002108)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HAL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HAL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAL
      QuantiTect SYBR Green Assays in human, mouse, rat HAL
      QuantiFast Probe-based Assays in human, mouse, rat HAL

    Additional mRNA 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.115837  DT.70102504 

    Selected AceView cDNA sequences (see all 51):

    NM_002108 BX089267 AL596896 BU739014 AV683598 AA778922 C01635 D16626 
    CB156949 CB162549 AI248003 BX643395 BM713716 AL597111 BG617660 BX506683 
    AI249025 BX422319 AL601504 AA233369 AL597387 CB153364 CB161424 CB115673 

    GeneLoc Exon Structure

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

    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:            


    ECgene alternative splicing isoforms for HAL

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


    HAL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Monocytes Peripheral Blood
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Periportal Hepatocytes Liver Lobule
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    HAL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HAL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.190783
        Pathway & Disease-focused RT2 Profiler PCR Array including HAL: 
              Prostate Cancer in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HAL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HAL
    QuantiTect SYBR Green Assays in human, mouse, rat HAL
    QuantiFast Probe-based Assays in human, mouse, rat HAL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAL

    (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 animals.

    Orthologs for HAL gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hal1 , 5 histidine ammonia lyase1, 5 87.42(n)1
    93.76(a)1
      10 (48.49 cM)5
    151091  NM_010401.31  NP_034531.11 
     934887685 
    chicken
    (Gallus gallus)
    Aves HAL1 histidine ammonia-lyase 78.29(n)
    89.04(a)
      378924  NM_204404.1  NP_989735.1 
    lizard
    (Anolis carolinensis)
    Reptilia HAL6
    histidine ammonia-lyase
    87(a)
    1 ↔ 1
    5(30572665-30593543)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.22562 Xenopus laevis clone S10-46-F1 mRNA sequence 76.77(n)    AF549926.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hal1 histidine ammonia-lyase 71.97(n)
    82.06(a)
      100004331  NM_001089457.1  NP_001082926.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F47B10.23
    haly-11
    histidine ammonia-lyase3
    haly-11
    54(a)3
    56.03(n)1
    57(a)1
      X(10928918-10931554)3
    1812791  NM_077419.61  NP_509820.11 


    ENSEMBL Gene Tree for HAL (if available)
    TreeFam Gene Tree for HAL (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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    Selected SNPs for HAL (see all 757)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0229164
    Histidinemia (HISTID)4--see VAR_0229162 R L mis40--------
    VAR_0229154
    Histidinemia (HISTID)4--see VAR_0229152 R T mis40--------
    VAR_0229184
    Histidinemia (HISTID)4--see VAR_0229182 R P mis40--------
    VAR_0229174
    Histidinemia (HISTID)4--see VAR_0229172 P L mis40--------
    rs586438041,2
    C,F--96205737(+) CATGCC/TCATGC 3 -- ds50012Minor allele frequency- T:0.06WA 120
    rs107777621,2
    C,F,A,H--96205765(+) CCAAAT/ATGACT 3 -- ds50016Minor allele frequency- A:0.20NA WA EA 364
    rs1491104991,2
    --96205961(+) TAGCCA/TATGGG 3 -- ds50010--------
    rs38293051,2
    C,F,H--96206043(+) CTTGAT/CTAACT 3 -- ds500121Minor allele frequency- C:0.26NS EA NA WA CSA 2341
    rs1178114291,2
    C,F--96206060(+) AGAGGC/TGCTTA 3 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1430485171,2
    --96206146(+) AAGTTC/TCCTTG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for HAL (96366440 - 96390143 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HAL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523292CNV Gain19592680
    nsv7234OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): HAL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HAL
    DNA2.0 Custom Variant and Variant Library Synthesis for HAL

    (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.)
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    OMIM gene information: 609457   
    OMIM disorders: 235800  
    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357
  • Histidinemia (HISTID) [MIM:235800]: Autosomal recessive disease characterized by increased histidine and
    histamine as well as decreased urocanic acid in body fluids. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 17 diseases for HAL:    About MalaCards
    histidinemia    cholelithiasis    autosomal recessive disease    lymphedema
    hepatoblastoma    hepatitis b    schizophrenia    cerebritis
    hepatitis    tonsillitis    prostatitis    melanoma
    prostate cancer    multiple myeloma    myeloma    thyroiditis
    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for HAL:
    Histidinemia

    HAL for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HAL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    histidinemia 97.2 14 15806399 (2), 2055114 (2), 8530107 (2), 2347667 (1) (see all 7)

    Genatlas disease: HAL
    histidinemia

    Genetic Association Database (GAD): HAL
    Human Genome Epidemiology (HuGE) Navigator: HAL (10 documents)

    Export disorders for HAL 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 HAL gene, integrated from 10 sources (see all 47):
    (articles sorted by number of sources associating them with HAL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and structural characterization of the human histidase gene (HAL). (PubMed id 8530107)1, 2, 9 Suchi M.... Wada Y. (Genomics 1995)
    2. Molecular cloning of a cDNA encoding human histidase. (PubMed id 7916645)1, 2, 9 Suchi M.... Takagi Y. (Biochim. Biophys. Acta 1993)
    3. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions. (PubMed id 18641401)1, 4, 9 Welsh M.M....Nelson H.H. (Carcinogenesis 2008)
    4. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (PubMed id 15806399)1, 2, 9 Kawai Y.... Suchi M. (Hum. Genet. 2005)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid. (PubMed id 18280705)1, 9 Eckhart L....Tschachler E. (J. Dermatol. Sci. 2008)
    7. Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells. (PubMed id 15741241)1, 9 AlemA!n G....Torres N. (Am. J. Physiol. Endocrinol. Metab. 2005)
    8. Inhibition of histidine ammonia lyase by heteroaryl-alanines and acrylates. (PubMed id 17193285)7, 9 Katona A....RActey J. (amp 2006)
    9. Localization of histidase to human chromosome region 12q22----q24.1 and mouse chromosome region 10C2----D1. (PubMed id 2055114)1, 9 Taylor R.G....McInnes R.R. (Cytogenet. Cell Genet. 1991)
    10. Kinetic analysis of the reactions catalyzed by histidine and phenylalanine ammonia lyases. (PubMed id 17191848)7, 9 Viergutz S. and RActey J. (amp 2004)

    (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: 3034 HGNC: 4806 AceView: HAL Ensembl:ENSG00000084110 euGenes: HUgn3034
    ECgene: HAL Kegg: 3034 H-InvDB: HAL

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for HAL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HAL[genesymbol]

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

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



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