Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3034
Gene name Gene Name - the full gene name approved by the HGNC.	Histidine ammonia-lyase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HAL
Synonyms (NCBI Gene) Gene synonyms aliases	HIS, HSTD
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q23.1
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(4)

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

Show/Hide all(31)

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

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004397	Function	Histidine ammonia-lyase activity	EXP	15806399
GO:0004397	Function	Histidine ammonia-lyase activity	IBA
GO:0004397	Function	Histidine ammonia-lyase activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006547	Process	L-histidine metabolic process	IEA
GO:0006548	Process	L-histidine catabolic process	IBA
GO:0006548	Process	L-histidine catabolic process	IEA
GO:0006548	Process	L-histidine catabolic process	IEA
GO:0006548	Process	L-histidine catabolic process	TAS
GO:0016829	Function	Lyase activity	IEA
GO:0016841	Function	Ammonia-lyase activity	IEA
GO:0019556	Process	L-histidine catabolic process to glutamate and formamide	IEA
GO:0019557	Process	L-histidine catabolic process to glutamate and formate	IEA

MIM	HGNC	e!Ensembl
609457	4806	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

Interactions

View interactions

	KEGG		Reactome
	Histidine metabolism Metabolic pathways		Histidine catabolism

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS
Histidinemia	histidinemia	N/A	N/A	ClinVar, GenCC

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	27696788
Autism Spectrum Disorder	Associate	35978033
Carcinoma Basal Cell	Associate	18641401
Carcinoma Squamous Cell	Associate	18641401
Coronary Artery Disease	Associate	24725463, 27696788
Coronary Disease	Associate	25575548
Dehydration	Associate	36380055
Liposarcoma	Associate	21038090
Lupus Erythematosus Systemic	Associate	33470559
Lupus Nephritis	Associate	33470559
Malignant Hyperthermia	Associate	1971150
Melanoma Cutaneous Malignant	Associate	31435991
Metabolism Inborn Errors	Associate	27453504
Myocardial Infarction	Associate	24725463
Neointima	Associate	24703313
Pulmonary Disease Chronic Obstructive	Associate	29394082
Spinal Muscular Atrophies of Childhood	Associate	36380055
Sunburn	Associate	18641401
Tooth Loss	Associate	25575548

HAL (histidine ammonia-lyase)