HAL
entrez
3034
canonical
uniprot
P42357
canonical
ensembl
ENSG00000084110
resolver
ensp
ENSP00000261208
resolver
ensp
ENSP00000440861
resolver
ensp
ENSP00000446364
resolver
genesymbol
HAL
resolver
genesymbol_syn
HIS
resolver
hgnc
HGNC:4806
resolver
uniprot
B4DQC1
resolver
uniprot
B4E0V8
resolver
uniprot
F5GXF2
resolver
uniprot
F5H1U5
resolver
uniprot
Q4VB92
resolver
uniprot
Q4VB93
resolver
uniprot_entry
HUTH_HUMAN
resolver
uniprot_sec
B4DQC1
resolver
uniprot_sec
B4E0V8
resolver
uniprot_sec
F5GXF2
resolver
uniprot_sec
F5H1U5
resolver
uniprot_sec
Q4VB92
resolver
uniprot_sec
Q4VB93
resolver
amino_acid_sequence
MPRYTVHVRGEWLAVPCQDAQLTVGWLGREAVRRYIKNKPDNGGFTSVDDAHFLVRRCKGLGLLDNEDRLEVALENNEFVEVVIEGDAMSPDFIPSQPEGVYLYSKYREPEKYIELDGDRLTTEDLVNLGKGRYKIKLTPTAEKRVQKSREVIDSIIKEKTVVYGITTGFGKFARTVIPINKLQELQVNLVRSHSSGVGKPLSPERCRMLLALRINVLAKGYSGISLETLKQVIEMFNASCLPYVPEKGTVGASGDLAPLSHLALGLVGEGKMWSPKSGWADAKYVLEAHGLKPVILKPKEGLALINGTQMITSLGCEAVERASAIARQADIVAALTLEVLKGTTKAFDTDIHALRPHRGQIEVAFRFRSLLDSDHHPSEIAESHRFCDRVQDAYTLRCCPQVHGVVNDTIAFVKNIITTELNSATDNPMVFANRGETVSGGNFHGEYPAKALDYLAIGIHELAAISERRIERLCNPSLSELPAFLVAEGGLNSGFMIAHCTAAALVSENKALCHPSSVDSLSTSAATEDHVSMGGWAARKALRVIEHVEQVLAIELLAACQGIEFLRPLKTTTPLEKVYDLVRSVVRPWIKDRFMAPDIEAAHRLLLEQKVWEVAAPYIEKYRMEHIPESRPLSPTAFSLQFLHKKSTKIPESEDL
uniprot
proteins
disease_involvement
DISEASE: Histidinemia (HISTID) [MIM:235800]: Autosomal recessive disease characterized by increased histidine and histamine as well as decreased urocanic acid in body fluids. {ECO:0000269|PubMed:15806399}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.3.1.3
uniprot
proteins
function
FUNCTION: Catalyzes the first reaction in histidine catabolism, the non-oxidative deamination of L-histidine to trans-urocanic. {ECO:0000250|UniProtKB:P21213}.
uniprot
proteins
mass_dalton
72698
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-histidine degradation into L-glutamate; N-formimidoyl-L-glutamate from L-histidine: step 1/3.
uniprot
proteins
post_translational_modification
PTM: Contains an active site 4-methylidene-imidazol-5-one (MIO), which is formed autocatalytically by cyclization and dehydration of residues Ala-Ser-Gly. {ECO:0000250}.
uniprot
proteins
protein_family
PAL/histidase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15806399
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7916645
uniprot
proteins
pubmed
8530107
uniprot
proteins
sequence_length
657
uniprot
proteins