HARS1
entrez
3035
canonical
uniprot
P12081
canonical
ensembl
ENSG00000170445
resolver
ensp
ENSP00000304668
resolver
ensp
ENSP00000387893
resolver
ensp
ENSP00000393244
resolver
ensp
ENSP00000411085
resolver
ensp
ENSP00000411511
resolver
ensp
ENSP00000425634
resolver
ensp
ENSP00000612784
resolver
enst
ENST00000415192
resolver
enst
ENST00000431330
resolver
genesymbol
HARS1
resolver
genesymbol_syn
HARS
resolver
genesymbol_syn
HRS
resolver
hgnc
HGNC:4816
resolver
uniprot
B4DDD8
resolver
uniprot
B4DHQ1
resolver
uniprot
B4DY73
resolver
uniprot
B4E1C5
resolver
uniprot
D6REN6
resolver
uniprot
F6VEC6
resolver
uniprot
F6XYT1
resolver
uniprot
J3KNE5
resolver
uniprot_entry
B4DDD8_HUMAN
resolver
uniprot_entry
B4E1C5_HUMAN
resolver
uniprot_entry
F6VEC6_HUMAN
resolver
uniprot_entry
F6XYT1_HUMAN
resolver
uniprot_entry
HARS1_HUMAN
resolver
uniprot_sec
B4DHQ1
resolver
uniprot_sec
B4DY73
resolver
uniprot_sec
D6REN6
resolver
uniprot_sec
J3KNE5
resolver
amino_acid_sequence
MAERAALEELVKLQGERVRGLKQQKASAELIEEEVAKLLKLKAQLGPDESKQKFVLKTPKGTRDYSPRQMAVREKVFDVIIRCFKRHGAEVIDTPVFELKETLMGKYGEDSKLIYDLKDQGGELLSLRYDLTVPFARYLAMNKLTNIKRYHIAKVYRRDNPAMTRGRYREFYQCDFDIAGNFDPMIPDAECLKIMCEILSSLQIGDFLVKVNDRRILDGMFAICGVSDSKFRTICSSVDKLDKVSWEEVKNEMVGEKGLAPEVADRIGDYVQQHGGVSLVEQLLQDPKLSQNKQALEGLGDLKLLFEYLTLFGIDDKISFDLSLARGLDYYTGVIYEAVLLQTPAQAGEEPLGVGSVAAGGRYDGLVGMFDPKGRKVPCVGLSIGVERIFSIVEQRLEALEEKIRTTETQVLVASAQKKLLEERLKLVSELWDAGIKAELLYKKNPKLLNQLQYCEEAGIPLVAIIGEQELKDGVIKLRSVTSREEVDVRREDLVEEIKRRTGQPLCIC
uniprot
proteins
disease_involvement
DISEASE: Usher syndrome 3B (USH3B) [MIM:614504]: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269|PubMed:22279524}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Charcot-Marie-Tooth disease, axonal, type 2W (CMT2W) [MIM:616625]: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2W patients manifest a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Most patients also have upper limb involvement. {ECO:0000269|PubMed:22930593, ECO:0000269|PubMed:26072516, ECO:0000269|PubMed:29235198}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.21
uniprot
proteins
function
FUNCTION: Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516). {ECO:0000269|PubMed:26072516, ECO:0000269|PubMed:29235198}.
uniprot
proteins
mass_dalton
57411
uniprot
proteins
protein_family
Class-II aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1549469
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22279524
uniprot
proteins
pubmed
22930593
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25151410
uniprot
proteins
pubmed
26072516
uniprot
proteins
pubmed
29235198
uniprot
proteins
pubmed
3554142
uniprot
proteins
pubmed
7755634
uniprot
proteins
pubmed
8406012
uniprot
proteins
sequence_length
509
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:F1Q5D5}.
uniprot
proteins