HAL (histidine ammonia-lyase)

Gene

• Entrez ID: 3034
• Gene name: Histidine ammonia-lyase
• Gene symbol: HAL
• Synonyms: HIS, HSTD
• Chromosome: 12
• Chromosome location: 12q23.1
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434327	C>G,T	Affects	Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434328	C>A,T	Affects	Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434329	G>A	Affects	Upstream transcript variant, intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434330	C>G,T	Affects	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020785	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT525708	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT525707	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT525706	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT525705	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT525704	hsa-miR-4635	PAR-CLIP	22012620
MIRT444183	hsa-miR-583	PAR-CLIP	22100165
MIRT444182	hsa-miR-4434	PAR-CLIP	22100165
MIRT444181	hsa-miR-4516	PAR-CLIP	22100165
MIRT444180	hsa-miR-5703	PAR-CLIP	22100165
MIRT444179	hsa-miR-4531	PAR-CLIP	22100165
MIRT444178	hsa-miR-1270	PAR-CLIP	22100165
MIRT444176	hsa-miR-620	PAR-CLIP	22100165
MIRT525708	hsa-miR-128-3p	PAR-CLIP	22012620
MIRT525707	hsa-miR-216a-3p	PAR-CLIP	22012620
MIRT525706	hsa-miR-3681-3p	PAR-CLIP	22012620
MIRT525705	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT525704	hsa-miR-4635	PAR-CLIP	22012620
MIRT444183	hsa-miR-583	PAR-CLIP	22100165
MIRT444182	hsa-miR-4434	PAR-CLIP	22100165
MIRT444181	hsa-miR-4516	PAR-CLIP	22100165
MIRT444180	hsa-miR-5703	PAR-CLIP	22100165
MIRT444179	hsa-miR-4531	PAR-CLIP	22100165
MIRT444178	hsa-miR-1270	PAR-CLIP	22100165
MIRT444176	hsa-miR-620	PAR-CLIP	22100165
MIRT2240946	hsa-miR-1229	CLIP-seq
MIRT2240947	hsa-miR-1273g	CLIP-seq
MIRT2240948	hsa-miR-3620	CLIP-seq
MIRT2240949	hsa-miR-4659a-3p	CLIP-seq
MIRT2240950	hsa-miR-4659b-3p	CLIP-seq
MIRT2240951	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004397	Function	Histidine ammonia-lyase activity	EXP	15806399
GO:0004397	Function	Histidine ammonia-lyase activity	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006548	Process	Histidine catabolic process	IBA	21873635
GO:0006548	Process	Histidine catabolic process	TAS
GO:0016841	Function	Ammonia-lyase activity	IBA	21873635
GO:0019556	Process	Histidine catabolic process to glutamate and formamide	IEA
GO:0019557	Process	Histidine catabolic process to glutamate and formate	IEA

Other IDs

• MIM: 609457
• HGNC: 4806
• e!Ensembl: ENSG00000084110

Protein

• UniProt ID: P42357
• Protein name: Histidine ammonia-lyase (Histidase) (EC 4.3.1.3)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12053	Par3_HAL_N_term	3 → 86	N-terminal of Par3 and HAL proteins	Family
  PF00221	Lyase_aromatic	121 → 585	Aromatic amino acid lyase	Family

• Sequence:

  MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGGFTSVDDAHFLVRRCKG
  LGLLDNEDRLEVALENNEFVEVVIEGDAMSPDFIPSQPEGVYLYSKYREPEKYIELDGDR
  LTTEDLVNLGKGRYKIKLTPTAEKRVQKSREVIDSIIKEKTVVYGITTGFGKFARTVIPI
  NKLQELQVNLVRSHSSGVGKPLSPERCRMLLALRINVLAKGYSGISLETLKQVIEMFNAS
  CLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSPKSGWADAKYVLEAHGLKPVILKPK
  EGLALINGTQMITSLGCEAVERASAIARQADIVAALTLEVLKGTTKAFDTDIHALRPHRG
  QIEVAFRFRSLLDSDHHPSEIAESHRFCDRVQDAYTLRCCPQVHGVVNDTIAFVKNIITT
  ELNSATDNPMVFANRGETVSGGNFHGEYPAKALDYLAIGIHELAAISERRIERLCNPSLS
  ELPAFLVAEGGLNSGFMIAHCTAAALVSENKALCHPSSVDSLSTSAATEDHVSMGGWAAR
  KALRVIEHVEQVLAIELLAACQGIEFLRPLKTTTPLEKVYDLVRSVVRPWIKDRFMAPDI
  EAAHRLLLEQKVWEVAAPYIEKYRMEHIPESRPLSPTAFSLQFLHKKSTKIPESEDL

• Sequence length: 657

Pathways

KEGG:

Histidine metabolism
Metabolic pathways

Reactome:

Histidine catabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Histidinemia	Histidinemia	rs121434327, rs121434328, rs121434329, rs121434330

Unknown
Disease name	Disease term	dbSNP ID	References
Histidine transport defect	Histidinuria renal tubular defect		15806399
Specific learning disorder	Specific learning disability	rs1057519497
Speech disorders	Speech Disorders