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

HAL Gene

protein-coding   GIFtS: 61
GCID: GC12M096366

histidine ammonia-lyase


(Previous symbol: HIS)
 Explore 11 diseases affiliated with
HAL via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HAL    

Aliases
for HAL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Histidine Ammonia-Lyase1 2     Histidase3
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


Summaries
for HAL gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for 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. Several transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)

Gene Wiki entry for HAL (Histidine ammonia-lyase)


Genomic Views
for HAL 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 plasmid: HAL promoter sequence
   Search SABiosciences Chromatin IP Primers for HAL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for HAL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

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 modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P42357

    • 4/16 DME Specific Peptides for HAL (P42357) (see all 16)
     LAKGYSG  VSGGNFH  NSATDNP  SGGNFHG 

    HAL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein: HAL
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    Novus Biologicals HAL Protein
    Novus Biologicals HAL Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HAL

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--


    HAL for ontologies           About GeneDecksing



    HAL Antibody Products: 
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    Uscn Antibodies for HAL
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    Uscn ELISAs and CLIAs for HAL

    Protein Domains /
    Families
    for HAL gene

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

    5 InterPro domains/families:
     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


    Function
    for HAL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: HAL
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAL
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HAL:
    hsa-miR-33a* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmid: HAL 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAL (see all 7)
    OriGene shRNA RFP: HAL
    OriGene siRNA: HAL
    QIAGEN FlexiTube/FlexiPlate 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 Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HAL (see all 3)
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    GenScript: all cDNA clones in your preferred vector: HAL (NM_002108)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HAL 

    Cell Line
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    Search LifeMap BioReagents cell lines for HAL

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAL

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004397histidine ammonia-lyase activity IEA--
    GO:0016841ammonia-lyase activity ----


    HAL for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HAL:
     Synthetic lethal with Ras 

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

    HAL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for HAL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Histidine catabolism
    		Histidine catabolism1.00
    		histidine degradation III0.57
    		histidine degradation VI0.60
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Histidine metabolism
    		Histidine metabolism1.00
    5Reversible Hydration of Carbon Dioxide
    		Nitrogen metabolism0.52

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for HAL 
        histidine degradation VI
    histidine degradation III

    3        Reactome Pathways for HAL
        Histidine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    3         Kegg Pathways  (Kegg details for HAL):
        Histidine metabolism
    Nitrogen 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

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/22 Interacting proteins for HAL (P423573 ENSP000002612084) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK1P284823I2D: score=5 
    C12orf44Q9BSB43I2D: score=1 
    SLC2A4P146723I2D: score=1 
    CNDP1ENSP000003516824STRING: ENSP00000351682
    CPS1ENSP000004026084STRING: ENSP00000402608
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for HAL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HAL for compounds           About GeneDecksing

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

    Browse Tocris compounds for HAL

    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

    10/11 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about HAL / HUTH 

    Transcripts
    for HAL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HAL
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HAL:
    hsa-miR-33a* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmid: HAL 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HAL (see all 7)
    OriGene shRNA RFP: HAL
    OriGene siRNA: HAL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HAL
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HAL
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    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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HAL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HAL

    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.115837  DT.70102504 

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

    AV683598 AL596896 NM_002108 BU739014 D16626 AA778922 CB156949 C01635 
    BX089267 BG567115 AI248003 CB115673 AA233369 AL597387 N55360 BM713716 
    CB161424 CB162549 CB153364 BX643395 AA702357 N76272 BG617660 AI140162 

    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

    Expression
    for HAL gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HAL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    HAL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePeriportal HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.190783
        SABiosciences Expression via Pathway-Focused PCR Array including HAL: 
              Prostate Cancer in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HAL

    Orthologs
    for HAL gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HAL gene from 8/25 species (see all 25)    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
    		 --
    		 87(a)
    		 1 ↔ 1
    		 5(30572665-30592836)
    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
    Protein HALY-11    		 54(a)3
    56.03(n)1
    57(a)1    		   X(10928918-10931554)3
    1812791  NM_077419.51  NP_509820.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons PAL36
    PAL46
    (see all 4)    		 phenylalanine ammonia-lyase 4
    (see all 4)    		 20(a)
    20(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 5(1160634-1163898)
    3(3204013-3208022)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 9)    		 phenylalanine ammonia-lyase, putative, expressed
    (see all 9)    		 21(a)
    21(a)
    (see all 9)    		 possible ortholog
    possible ortholog
    (see all 9)    		 11(28489269-28491523)
    2(24979002-24983519)


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

    Paralogs
    for HAL gene

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

    Genomic Variants
    for HAL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/597 NCBI SNPs in HAL are shown (see all 597)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs586438041,2
    		C,--96366072(+) CATGCC/TCATGC 3 -- ds50012Minor allele frequency- T:0.06WA 120
    rs107777621,2
    		C,F,A,H,--96366100(+) CCAAAT/ATGACT 3 -- ds50016Minor allele frequency- A:0.20NA WA EA 364
    rs1491104991,2
    		--96366296(+) TAGCCA/TATGGG 3 -- ds50010--------
    rs38293051,2
    		C,F,H,--96366378(+) CTTGAT/CTAACT 3 -- ds500121Minor allele frequency- C:0.26NS EA NA WA CSA 2341
    rs1178114291,2
    		--96366395(+) AGAGGC/TGCTTA 3 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1430485171,2
    		--96366481(+) AAGTTC/TCCTTG 3 -- ut310--------
    rs1481891301,2
    		--96366492(+) AAGGCA/GTGTGC 3 -- ut310--------
    rs38128071,2
    		C,F,--96366511(+) ACTAAT/CAGAGC 3 -- ut314Minor allele frequency- C:0.23WA CSA EA 242
    rs1871746371,2
    		--96366586(+) CAGCAA/TTCCCC 3 -- ut310--------
    rs1412191131,2
    		--96366601(+) TGGAGC/TGAAGA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for HAL (96366440 - 96390143 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HAL: --
    Human Gene Mutation Database (HGMD): HAL

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HAL
    DNA2.0 Custom Variant and Variant Library Synthesis for HAL

    Disorders / Diseases
    for HAL gene

    (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.)
    About This Section
    HAL for disorders           About GeneDecksing

    OMIM gene information: 609457   
    OMIM disorders: 235800  
    UniProtKB/Swiss-Prot: HUTH_HUMAN, P42357
  • Defects in HAL are the cause of histidinemia (HISTID) [MIM:235800]. It is an autosomal recessive disease
    • characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids

    11 diseases for HAL:    About MalaCards
    histidinemia    autosomal recessive disease    cholelithiasis    lymphedema
    hepatitis b    hepatoblastoma    skin cancer    hepatitis
    cerebritis    schizophrenia    melanoma

    2 diseases from the University of Copenhagen DISEASES database for HAL:
    Histidinemia     Sigmoid colon cancer

    1 Novoseek 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

    Publications
    for HAL gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HAL gene, integrated from 9 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. (1995)
    2. Molecular cloning of a cDNA encoding human histidase. (PubMed id 7916645)1, 2, 9 Suchi M.... Takagi Y. (1993)
    3. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (PubMed id 15806399)1, 2, 9 Kawai Y.... Suchi M. (2005)
    4. 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. (2004)
    5. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid. (PubMed id 18280705)1, 9 Eckhart L....Tschachler E. (2008)
    6. Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells. (PubMed id 15741241)1, 9 Aleman G....Torres N. (2005)
    7. Inhibition of histidine ammonia lyase by heteroaryl-alanines and acrylates. (PubMed id 17193285)7, 9 Katona A....Retey J. (2006)
    8. 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. (1991)
    9. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions. (PubMed id 18641401)1, 9 Welsh M.M....Nelson H.H. (2008)
    10. Kinetic analysis of the reactions catalyzed by histid ine and phenylalanine ammonia lyases. (PubMed id 17191848)7, 9 Viergutz S. and RActey J. (2004)

    External Searches for HAL gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HAL gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3034 HGNC: 4806 AceView: HAL Ensembl:ENSG00000084110 euGenes: HUgn3034
    ECgene: HAL Kegg: 3034 H-InvDB: HAL

    Other Databases showing HAL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HAL gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HAL Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HAL

    Intellectual Property
    for HAL gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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