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

    Gene ID: 3034, updated on 20-Aug-2016
    Official Symbol
    HALprovided by HGNC
    Official Full Name
    histidine ammonia-lyaseprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    Location:
    12q23.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (95972662..95996365, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (96366440..96390143, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide F Neighboring gene coiled-coil domain containing 38 Neighboring gene amidohydrolase domain containing 1 Neighboring gene uncharacterized LOC102723340 Neighboring gene leukotriene A4 hydrolase Neighboring gene transfer RNA-Asp (GTC) 2-8

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    histidine ammonia-lyase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    Process Evidence Code Pubs
    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
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    histidine ammonia-lyase
    Names
    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_001258333.1NP_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
      Related
      ENSP00000446364, ENST00000541929
      Conserved Domains (1) summary
      TIGR01225
      Location:1417
      hutH; histidine ammonia-lyase
    2. NM_001258334.1NP_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
      Related
      ENSP00000440861, OTTHUMP00000243565, ENST00000538703, OTTHUMT00000408647
      Conserved Domains (2) summary
      TIGR01225
      Location:114588
      hutH; histidine ammonia-lyase
      pfam12053
      Location:1588
      DUF3534; Domain of unknown function (DUF3534)
    3. NM_002108.3NP_002099.1  histidine ammonia-lyase isoform 1

      See identical proteins and their annotated locations for NP_002099.1

      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 (2) summary
      TIGR01225
      Location:114625
      hutH; histidine ammonia-lyase
      pfam12053
      Location:1588
      DUF3534; Domain of unknown function (DUF3534)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      95972662..95996365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538249.2XP_011536551.1  

      Conserved Domains (2) summary
      cd00332
      Location:2283
      PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)
      pfam00221
      Location:2308
      Lyase_aromatic; Aromatic amino acid lyase
    2. XM_017019246.1XP_016874735.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      96331432..96355134 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)