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

Gene ID: 3034, updated on 13-Feb-2019

Summary

Official Symbol
HALprovided by HGNC
Official Full Name
histidine ammonia-lyaseprovided by HGNC
Primary source
HGNC:HGNC:4806
See related
Ensembl:ENSG00000084110 MIM:609457
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]
Expression
Biased expression in skin (RPKM 20.5), liver (RPKM 18.5) and 2 other tissues See more
Orthologs

Genomic context

See HAL in Genome Data Viewer
Location:
12q23.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 tRNA-Asp (GTC) 2-8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
histidine ammonia-lyase activity EXP
Inferred from Experiment
more info
PubMed 
histidine ammonia-lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
histidine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 

General protein information

Preferred Names
histidine ammonia-lyase
Names
histidase
NP_001245262.1
NP_001245263.1
NP_002099.1
XP_011536551.1
XP_016874735.1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000446364.1, ENST00000541929.5
    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
    ENSP00000440861.1, ENST00000538703.5
    Conserved Domains (2) summary
    TIGR01225
    Location:114588
    hutH; histidine ammonia-lyase
    pfam12053
    Location:1588
    DUF3534; Domain of unknown function (DUF3534)
  3. NM_002108.4NP_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
    ENSP00000261208.3, ENST00000261208.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011538249.2XP_011536551.1  histidine ammonia-lyase isoform X1

    Conserved Domains (1) summary
    cl00013
    Location:2341
    Lyase_I_like; Lyase class I_like superfamily: contains the lyase class I family, histidine ammonia-lyase and phenylalanine ammonia-lyase, which catalyze similar beta-elimination reactions
  2. XM_017019246.1XP_016874735.1  histidine ammonia-lyase isoform X2

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