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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3034
Gene name	Histidine ammonia-lyase
Gene symbol	HAL
Synonyms (NCBI Gene)	HISHSTD
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

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

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

138

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs117991621	RCV005893163
Colon adenocarcinoma	Conflicting classifications of pathogenicity	rs117991621	RCV005893161
HAL-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs7297245, rs201071054, rs112610390, rs137860207, rs771203285, rs372942789, rs11108364, rs36014288, rs2302629, rs117991621, rs2302628, rs151109430, rs188783496, rs189238113	RCV003983013 RCV003909761 RCV003924633 RCV003941631 RCV003961387 RCV003944627 RCV003977911 RCV003967905 RCV003977912 RCV003920293 RCV003977913 RCV003926116 RCV003973079 RCV003906212
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs117991621	RCV005893162
Histidinemia	Affects; Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs121434327, rs121434328, rs121434329, rs121434330, rs145312493, rs762862322, rs148189130, rs113875416, rs886049898, rs140039557, rs143935341, rs201942023, rs147706824, rs7297245, rs189938038 View all (97 more)	RCV000001757 RCV000001758 RCV000001759 RCV000001760 RCV003135514 RCV003153213 RCV000339342 RCV000341238 RCV000382957 RCV000300989 RCV000321077 RCV000267120 RCV000290143 RCV000385709 RCV000404993 RCV000338345 RCV000329059 RCV000275144 RCV000317587 RCV000372336 RCV000394634 RCV000344369 RCV000309169 RCV000274197 RCV000315153 RCV000369870 RCV000361657 RCV000350614 RCV000278544 RCV000365030 RCV000330412 RCV000295333 RCV000341313 RCV000284200 RCV000308176 RCV000368762 RCV000316486 RCV000375848 RCV000286305 RCV000348102 RCV000402872 RCV000294237 RCV000349143 RCV000314252 RCV000354804 RCV000355776 RCV000265969 RCV000384441 RCV000395018 RCV000357857 RCV000395061 RCV000304290 RCV000269373 RCV000282499 RCV000394608 RCV000261302 RCV000262593 RCV000322449 RCV000377090 RCV000288570 RCV000397036 RCV000401515 RCV000325239 RCV000331186 RCV000295732 RCV000303245 RCV000363651 RCV000337562 RCV000378210 RCV000284016 RCV000333398 RCV005358034 RCV001110479 RCV001110396 RCV001114516 RCV001110317 RCV001110318 RCV001111059 RCV001111060 RCV001113045 RCV001114428 RCV001114429 RCV001114430 RCV001114431 RCV001110391 RCV001110392 RCV001110393 RCV001110394 RCV001110395 RCV001110397 RCV001111134 RCV001111135 RCV001113146 RCV001113147 RCV001113148 RCV001113149 RCV001113150 RCV001114514 RCV001114515 RCV001110477 RCV001110478 RCV001110480 RCV001111234 RCV001111235 RCV001111236 RCV001111237 RCV001113240 RCV001113241 RCV001113242 RCV001113243 RCV001113244 RCV001113245 RCV001113246 RCV001114609 RCV001114432
Increased histidine	association	rs141634423, rs34457757, rs76945459	RCV000211116 RCV000211097 RCV000211109
Lung cancer	Conflicting classifications of pathogenicity	rs117991621	RCV005893165
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs117991621	RCV005893164

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)