Sign in to NCBI

Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    HAL histidine ammonia-lyase [ Homo sapiens (human) ]

    Gene ID: 3034, updated on 22-May-2013
    Official Symbol
    HALprovided by HGNC
    Official Full Name
    histidine ammonia-lyaseprovided by HGNC
    Primary source
    HGNC:4806
    See related
    Ensembl:ENSG00000084110; HPRD:07187; MIM:609457; Vega:OTTHUMG00000170354
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HIS; HSTD
    Summary
    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]
    Location :
    12q22-q24.1
    Sequence :
    Chromosome: 12; NC_000012.11 (96366440..96390143, complement)
    See HAL in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 38 Neighboring gene amidohydrolase domain containing 1 Neighboring gene leukotriene A4 hydrolase Neighboring gene transfer RNA aspartic acid 12 (anticodon GUC) Neighboring gene yippee-like 5 (Drosophila) pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    2. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496.
    3. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions. Welsh MM, et al. Carcinogenesis, 2008 Oct. PMID 18641401.
    4. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid. Eckhart L, et al. J Dermatol Sci, 2008 Jun. PMID 18280705.
    5. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. Kawai Y, et al. Hum Genet, 2005 Apr. PMID 15806399.

    See all (11) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    2. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions.
    3. histidase is upregulated during keratinocyte differentiation and that all-trans retinoic acid but not UV irradiation modulates the expression level
      Title: Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid.
    4. This evidence supports that the Hal gene is turned on by glucocorticoids and by glucagon either via PKC or PKA, but prefers the PKA pathway.
      Title: Regulation by glucagon of the rat histidase gene promoter in cultured rat hepatocytes and human hepatoblastoma cells.
    5. This report describes the first mutations occurring in the coding region of the histidase structural gene in patients with histidinemia.
      Title: Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:109284 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Histidine catabolism, organism-specific biosystem (from REACTOME)
      Histidine catabolism, organism-specific biosystemThe major pathway of histidine catabolism, annotated here, proceeds in four steps to yield glutamate and, in the process, convert one molecule of tetrahydrofolate to 5-formiminotetrahydrofolate (Morr...
    • Histidine metabolism, organism-specific biosystem (from KEGG)
      Histidine metabolism, organism-specific biosystem
      Histidine metabolism
    • Histidine metabolism, conserved biosystem (from KEGG)
      Histidine metabolism, conserved biosystem
      Histidine metabolism
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
    • histidine degradation III, organism-specific biosystem (from BIOCYC)
      histidine degradation III, organism-specific biosystemSera and Yada were the first to show that :HIS is converted to : UROCANATE in mammalian livers . Following a period of controversy, it was shown that the histidase-catalyzed reaction is part of the m...
    • histidine degradation III, conserved biosystem (from BIOCYC)
      histidine degradation III, conserved biosystemGeneral Background |FRAME: HIS| can be catabolized by both prokaryotic and eukaryotic organisms in two principal routes. The main difference between these routes is the first step, which is performe...
    • histidine degradation VI, organism-specific biosystem (from BIOCYC)
      histidine degradation VI, organism-specific biosystemGeneral Background : HIS can be catabolized by both prokaryotic and eukaryotic organisms in two principal routes. The main difference between these routes is the first step, which is performed by e...
    • histidine degradation VI, conserved biosystem (from BIOCYC)
      histidine degradation VI, conserved biosystemGeneral Background |FRAME: HIS| can be catabolized by both prokaryotic and eukaryotic organisms in two principal routes. The main difference between these routes is the first step, which is perform...

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    histidine ammonia-lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    cellular nitrogen compound metabolic process TAS
    Traceable Author Statement
    more info
    		  
    histidine catabolic process TAS
    Traceable Author Statement
    more info
    		  
    histidine catabolic process to glutamate and formamide IEA
    Inferred from Electronic Annotation
    more info
    		  
    histidine catabolic process to glutamate and formate IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    Preferred Names
    histidine ammonia-lyase
    Names
    histidine ammonia-lyase
    histidase
    NP_001245262.1
    NP_001245263.1
    NP_002099.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008180.1 RefSeqGene

      Range
      4929..28632
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258333.1 → NP_001245262.1  histidine ammonia-lyase isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC126174, AI248003, AK303544, AL596896, D16626
      Consensus CDS
      CCDS58264.1
      UniProtKB/Swiss-Prot
      P42357
      Conserved Domains (1) summary
      cd00332
      Location:1 – 359
      Blast Score: 1428
      PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)

    2. NM_001258334.1 → NP_001245263.1  histidine ammonia-lyase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC126174, AI248003, AK298736, AL596896
      Consensus CDS
      CCDS58265.1
      UniProtKB/Swiss-Prot
      P42357
      Conserved Domains (1) summary
      cd00332
      Location:121 – 567
      Blast Score: 1759
      PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)

    3. NM_002108.3 → NP_002099.1  histidine ammonia-lyase isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC126174, AI248003, AL596896, D16626
      Consensus CDS
      CCDS9058.1
      UniProtKB/Swiss-Prot
      P42357
      Related
      ENSP00000261208, OTTHUMP00000243562, ENST00000261208, OTTHUMT00000408644
      Conserved Domains (1) summary
      cd00332
      Location:121 – 567
      Blast Score: 1767
      PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p10 Primary Assembly

      Range
      96366440..96390143, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      93428306..93452016, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      96206105..96229808, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AB042217.2 BAB61863.1
    genomic AB191160.1 BAE72109.1
    genomic AB191161.1 BAE72110.1
    genomic AB191162.1 BAE72111.1
    genomic AB191163.1 BAE72112.1
    genomic AB191164.1 BAE72113.1
    genomic AB191165.1 BAE72114.1
    genomic AB191166.1 BAE72115.1
    genomic AB191167.1 BAE72116.1
    genomic ABBA01053319.1 (75441..99151) None
    genomic AC007298.17 (185095..199575) None
    genomic AC126174.9 (79776..88686) None
    genomic AMYH01004677.1 (127833..151536) None
    genomic CH471054.1 EAW97554.1
      EAW97555.1
      EAW97556.1
    genomic D43619.1 None
    mRNA AI248003.1 None
    mRNA AK297004.1 BAG59540.1
    mRNA AK298736.1 BAG60883.1
    mRNA AK303544.1 BAG64570.1
    mRNA AL596896.1 None
    mRNA BC096096.1 AAH96096.1
    mRNA BC096097.3 AAH96097.1
    mRNA BC096098.3 AAH96098.1
    mRNA BC096099.1 AAH96099.1
    mRNA D16626.1 BAA04047.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42357.1 GenPept UniProtKB/Swiss-Prot:P42357

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...