• Gene id: 3034

Gene Summary

• Gene Symbol: HAL   Gene   UCSC   Ensembl
• Aliases: HIS, HSTD
• Gene name: histidine ammonia-lyase
• Alternate names: histidine ammonia-lyase, histidase,
• Gene location: 12q23.1 (95996364: 95972661)     Exons: 22     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 609457

Protein Summary

• Protein general information: P42357  
  • Name: Histidine ammonia lyase (Histidase) (EC 4.3.1.3)
  • Length: 657  
  • Mass: 72698
• Sequence:

  MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGGFTSVDDAHFLVRRCKGLGLLDNEDRLEVALE
  NNEFVEVVIEGDAMSPDFIPSQPEGVYLYSKYREPEKYIELDGDRLTTEDLVNLGKGRYKIKLTPTAEKRVQKSR
  EVIDSIIKEKTVVYGITTGFGKFARTVIPINKLQELQVNLVRSHSSGVGKPLSPERCRMLLALRINVLAKGYSGI
  SLETLKQVIEMFNASCLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSPKSGWADAKYVLEAHGLKPVILKPK
  EGLALINGTQMITSLGCEAVERASAIARQADIVAALTLEVLKGTTKAFDTDIHALRPHRGQIEVAFRFRSLLDSD
  HHPSEIAESHRFCDRVQDAYTLRCCPQVHGVVNDTIAFVKNIITTELNSATDNPMVFANRGETVSGGNFHGEYPA
  KALDYLAIGIHELAAISERRIERLCNPSLSELPAFLVAEGGLNSGFMIAHCTAAALVSENKALCHPSSVDSLSTS
  AATEDHVSMGGWAARKALRVIEHVEQVLAIELLAACQGIEFLRPLKTTTPLEKVYDLVRSVVRPWIKDRFMAPDI
  EAAHRLLLEQKVWEVAAPYIEKYRMEHIPESRPLSPTAFSLQFLHKKSTKIPESEDL

• Structural information:
  • Interpro: IPR001106  IPR024083  IPR005921  IPR008948  IPR021922   IPR022313  
  • Prosite: PS00488
  • CDD: cd00332
  • STRING: ENSP00000261208
• Other Databases: GeneCards:  HAL  Malacards:  HAL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006548	histidine catabolic process	IBA	biological process
GO:0016841	ammonia-lyase activity	IBA	molecular function
GO:0004397	histidine ammonia-lyase activity	IBA	molecular function
GO:0006548	histidine catabolic process	IEA	biological process
GO:0016841	ammonia-lyase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0004397	histidine ammonia-lyase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006547	histidine metabolic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0004397	histidine ammonia-lyase activity	IEA	molecular function
GO:0004397	histidine ammonia-lyase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0006548	histidine catabolic process	TAS	biological process
GO:0006548	histidine catabolic process	IEA	biological process
GO:0004397	histidine ammonia-lyase activity	IEA	molecular function
GO:0004397	histidine ammonia-lyase activity	IEA	molecular function
GO:0019557	histidine catabolic process to glutamate and formate	IEA	biological process
GO:0019556	histidine catabolic process to glutamate and formamide	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Histidinemia	KEGG:H00171
Histidinemia	KEGG:H00171
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881