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

Gene ID: 3034, updated on 19-Jul-2014
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
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 coiled-coil domain containing 38 Neighboring gene amidohydrolase domain containing 1 Neighboring gene uncharacterized LOC102723340 Neighboring gene uncharacterized LOC101928830 Neighboring gene leukotriene A4 hydrolase Neighboring gene transfer RNA-Asp (GTC) 2-6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

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 

    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
    Conserved Domains (2) summary
    cd00332
    Location:1359
    Blast Score: 1449
    PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)
    pfam00221
    Location:1384
    Blast Score: 1473
    Lyase_aromatic; Aromatic amino acid 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
    Conserved Domains (2) summary
    cd00332
    Location:121567
    Blast Score: 1785
    PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)
    pfam00221
    Location:114589
    Blast Score: 1824
    Lyase_aromatic; Aromatic amino acid lyase
  3. NM_002108.3NP_002099.1  histidine ammonia-lyase isoform 1

    See proteins identical to 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
    cd00332
    Location:121567
    Blast Score: 1793
    PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)
    pfam00221
    Location:114592
    Blast Score: 1831
    Lyase_aromatic; Aromatic amino acid lyase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

mRNA and Protein(s)

  1. XM_005268821.1XP_005268878.1  

    Conserved Domains (2) summary
    cd00332
    Location:121466
    Blast Score: 1303
    PAL-HAL; Phenylalanine ammonia-lyase (PAL) and histidine ammonia-lyase (HAL)
    pfam00221
    Location:114491
    Blast Score: 1356
    Lyase_aromatic; Aromatic amino acid lyase

Alternate HuRef

Genomic

  1. AC_000144.1 

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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