Human Gene HAL (uc010sux.2) Description and Page Index
Description: Homo sapiens histidine ammonia-lyase (HAL), transcript variant 3, mRNA. RefSeq Summary (NM_001258334): 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]. Transcript (Including UTRs) Position: hg19 chr12:96,366,440-96,390,143 Size: 23,704 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr12:96,368,138-96,389,688 Size: 21,551 Coding Exon Count: 19
ID:F5GXF2_HUMAN DESCRIPTION: RecName: Full=Histidine ammonia-lyase; EC=126.96.36.199; CATALYTIC ACTIVITY: L-histidine = urocanate + NH(3). PATHWAY: Amino-acid degradation; L-histidine degradation into L- glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3. SIMILARITY: Belongs to the PAL/histidase family. CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HAL CDC HuGE Published Literature: HAL
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on F5GXF2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.