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Aliases for HAL Gene

Aliases for HAL Gene

  • Histidine Ammonia-Lyase 2 3 5
  • EC 4.3.1.3 4 61
  • Histidase 3 4
  • HIS 3 4
  • EC 4.3.1 61
  • HSTD 3

External Ids for HAL Gene

Previous HGNC Symbols for HAL Gene

  • HIS

Previous GeneCards Identifiers for HAL Gene

  • GC12M095787
  • GC12M096730
  • GC12M096300
  • GC12M094869
  • GC12M093429
  • GC12M096366

Summaries for HAL Gene

Entrez Gene Summary for HAL Gene

  • 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]

GeneCards Summary for HAL Gene

HAL (Histidine Ammonia-Lyase) is a Protein Coding gene. Diseases associated with HAL include Histidinemia and Histidine Metabolism Disease. Among its related pathways are Metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. GO annotations related to this gene include histidine ammonia-lyase activity and ammonia-lyase activity.

Gene Wiki entry for HAL Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HAL Gene

Genomics for HAL Gene

Regulatory Elements for HAL Gene

Enhancers for HAL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F095972 0.4 ENCODE 34 +22.9 22878 2.8 ATF1 MLX ARID4B SLC30A9 ZNF121 SP5 MXD4 PPARG KAT8 MIER3 HAL CCDC38 AMDHD1 LOC102723340 GC12M095961 GC12M095983
GH12F096036 0.6 ENCODE 32.7 -41.1 -41067 1.4 HDAC1 MTA2 TAL1 CEBPB ARID1B IRF9 ZNF121 PBX2 CEBPA ZBTB33 HAL LOC102723340 LTA4H TRD-GTC2-8
GH12F095965 0.6 ENCODE 30.9 +29.8 29790 1.9 TBP MLX ARID4B ZNF48 ZSCAN9 RAD21 RARA YY1 THAP11 MIXL1 AMDHD1 HAL CCDC38 GC12M095961 GC12M095983
GH12F096033 0.6 ENCODE 30.5 -38.9 -38874 2.9 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 NEDD1 ELK3 HAL PGAM1P5 LOC102723340 ENSG00000258272 ENSG00000258313 ENSG00000202368 ENSG00000257470 NTN4
GH12F095994 0.8 Ensembl ENCODE 23.1 +0.4 365 2.8 MLX ARID4B DMAP1 YY1 SLC30A9 ELK1 SP5 MXD4 MIER2 PPARG HAL AMDHD1 CCDC38 LOC102723340 GC12M095983
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HAL on UCSC Golden Path with GeneCards custom track

Genomic Location for HAL Gene

Chromosome:
12
Start:
95,972,662 bp from pter
End:
95,996,365 bp from pter
Size:
23,704 bases
Orientation:
Minus strand

Genomic View for HAL Gene

Genes around HAL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HAL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HAL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HAL Gene

Proteins for HAL Gene

  • Protein details for HAL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42357-HUTH_HUMAN
    Recommended name:
    Histidine ammonia-lyase
    Protein Accession:
    P42357
    Secondary Accessions:
    • B4DQC1
    • B4E0V8
    • F5GXF2
    • F5H1U5
    • Q4VB92
    • Q4VB93

    Protein attributes for HAL Gene

    Size:
    657 amino acids
    Molecular mass:
    72698 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HAL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HAL Gene

Selected DME Specific Peptides for HAL Gene

P42357:
  • LAIELLAA
  • VSGGNFH
  • EDHVSMG
  • LCHPSSVDS
  • ISERRIERL
  • NSGFMIA
  • LAKGYSG
  • NSATDNP
  • SGGNFHG
  • VPEKGTVGASGDLAPLSHLALG
  • RCKGLGLLDNED
  • ELLAACQG
  • RSHSSGVG
  • YGITTGFGKF
  • KEGLALINGTQ
  • YGITTGFG

Post-translational modifications for HAL Gene

  • Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for HAL Gene

Graphical View of Domain Structure for InterPro Entry

P42357

UniProtKB/Swiss-Prot:

HUTH_HUMAN :
  • Belongs to the PAL/histidase family.
Family:
  • Belongs to the PAL/histidase family.
genes like me logo Genes that share domains with HAL: view

No data available for Gene Families for HAL Gene

Function for HAL Gene

Molecular function for HAL Gene

GENATLAS Biochemistry:
histidine ammonia lyase (histidase),histidine catabolism
UniProtKB/Swiss-Prot CatalyticActivity:
L-histidine = urocanate + NH(3).

Enzyme Numbers (IUBMB) for HAL Gene

Gene Ontology (GO) - Molecular Function for HAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004397 histidine ammonia-lyase activity EXP 15806399
GO:0016829 lyase activity IEA --
GO:0016841 ammonia-lyase activity IEA --
genes like me logo Genes that share ontologies with HAL: view
genes like me logo Genes that share phenotypes with HAL: view

Human Phenotype Ontology for HAL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HAL Gene

Localization for HAL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HAL Gene COMPARTMENTS Subcellular localization image for HAL gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for HAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HAL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HAL Gene

Pathways & Interactions for HAL Gene

genes like me logo Genes that share pathways with HAL: view

UniProtKB/Swiss-Prot P42357-HUTH_HUMAN

  • Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3.

Gene Ontology (GO) - Biological Process for HAL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006547 histidine metabolic process IEA --
GO:0006548 histidine catabolic process TAS --
GO:0019556 histidine catabolic process to glutamate and formamide IEA --
GO:0019557 histidine catabolic process to glutamate and formate IEA --
genes like me logo Genes that share ontologies with HAL: view

No data available for SIGNOR curated interactions for HAL Gene

Drugs & Compounds for HAL Gene

(12) Drugs for HAL Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Histidine Approved Nutra Target 0
Aminolevulinic acid Approved Pharma 157
Dermatologic Agents Pharma 5674
Methyl 5-aminolevulinate Pharma 58
Photosensitizing Agents Pharma 476

(5) Additional Compounds for HAL Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
urocanic acid
  • 3-(1H-Imidazol-4-yl)-2-propenoate
  • 3-(1H-Imidazol-4-yl)-2-propenoic acid
  • 3-(1H-Imidazol-4-yl)acrylate
  • 3-(1H-Imidazol-4-yl)acrylic acid
  • 3-(4-Imidazolyl)acrylate
104-98-3
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
genes like me logo Genes that share compounds with HAL: view

Transcripts for HAL Gene

Unigene Clusters for HAL Gene

Histidine ammonia-lyase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HAL Gene

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:

Relevant External Links for HAL Gene

GeneLoc Exon Structure for
HAL
ECgene alternative splicing isoforms for
HAL

Expression for HAL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HAL Gene

mRNA differential expression in normal tissues according to GTEx for HAL Gene

This gene is overexpressed in Liver (x27.8), Whole Blood (x12.2), and Skin - Sun Exposed (Lower leg) (x5.0).

Protein differential expression in normal tissues from HIPED for HAL Gene

This gene is overexpressed in Fetal Liver (29.3), Saliva (20.6), and Liver (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HAL Gene



NURSA nuclear receptor signaling pathways regulating expression of HAL Gene:

HAL

SOURCE GeneReport for Unigene cluster for HAL Gene:

Hs.190783
genes like me logo Genes that share expression patterns with HAL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HAL Gene

Orthologs for HAL Gene

This gene was present in the common ancestor of animals.

Orthologs for HAL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HAL 34 35
  • 99.39 (n)
oppossum
(Monodelphis domestica)
Mammalia HAL 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HAL 34 35
  • 90.01 (n)
dog
(Canis familiaris)
Mammalia HAL 34 35
  • 90.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HAL 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hal 34
  • 87.67 (n)
mouse
(Mus musculus)
Mammalia Hal 34 16 35
  • 87.42 (n)
chicken
(Gallus gallus)
Aves HAL 34 35
  • 78.29 (n)
lizard
(Anolis carolinensis)
Reptilia HAL 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hal.1 34
  • 72.98 (n)
Str.16849 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2256 34
zebrafish
(Danio rerio)
Actinopterygii hal 34 35
  • 71.97 (n)
worm
(Caenorhabditis elegans)
Secernentea haly-1 34 35
  • 56.03 (n)
F47B10.2 36
  • 54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11334 34
Species where no ortholog for HAL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HAL Gene

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

Paralogs for HAL Gene

No data available for Paralogs for HAL Gene

Variants for HAL Gene

Sequence variations from dbSNP and Humsavar for HAL Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121434327 Histidinemia (HISTID) [MIM:235800], other 95,992,778(-) TGAGA(A/C/G)GTGTC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121434328 Histidinemia (HISTID) [MIM:235800], other 95,992,772(-) GTGTC(A/G/T)GATGC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121434329 Histidinemia (HISTID) [MIM:235800], other 95,990,472(-) TGCCC(C/T)ACTCT intron-variant, upstream-variant-2KB, reference, missense
rs121434330 Histidinemia (HISTID) [MIM:235800], other 95,987,153(-) AGAGC(A/C/G)AGCCA reference, missense
rs141634423 other 95,983,909(+) AAGAT(A/G)CAGGA splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for HAL Gene

Variant ID Type Subtype PubMed ID
esv3630445 CNV gain 21293372
nsv523292 CNV gain 19592680
nsv7234 OTHER inversion 18451855

Variation tolerance for HAL Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HAL Gene

Human Gene Mutation Database (HGMD)
HAL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HAL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HAL Gene

Disorders for HAL Gene

MalaCards: The human disease database

(2) MalaCards diseases for HAL Gene - From: GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
histidinemia
  • histidinuria
histidine metabolism disease
  • disturbances of histidine metabolism
- elite association - COSMIC cancer census association via MalaCards
Search HAL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HUTH_HUMAN
  • Histidinemia (HISTID) [MIM:235800]: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. {ECO:0000269 PubMed:15806399}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HAL Gene

histidinemia

Relevant External Links for HAL

Genetic Association Database (GAD)
HAL
Human Genome Epidemiology (HuGE) Navigator
HAL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HAL
genes like me logo Genes that share disorders with HAL: view

Publications for HAL Gene

  1. A role for ultraviolet radiation immunosuppression in non-melanoma skin cancer as evidenced by gene-environment interactions. (PMID: 18641401) Welsh M.M. … Nelson H.H. (Carcinogenesis 2008) 3 22 46 64
  2. Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (PMID: 15806399) Kawai Y. … Suchi M. (Hum. Genet. 2005) 3 4 22 64
  3. Molecular cloning and structural characterization of the human histidase gene (HAL). (PMID: 8530107) Suchi M. … Wada Y. (Genomics 1995) 3 4 22 64
  4. Molecular cloning of a cDNA encoding human histidase. (PMID: 7916645) Suchi M. … Takagi Y. (Biochim. Biophys. Acta 1993) 3 4 22 64
  5. Histidase expression in human epidermal keratinocytes: regulation by differentiation status and all-trans retinoic acid. (PMID: 18280705) Eckhart L. … Tschachler E. (J. Dermatol. Sci. 2008) 3 22 64

Products for HAL Gene

Sources for HAL Gene

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