LARS2
entrez
23395
canonical
uniprot
Q15031
canonical
ensembl
ENSG00000011376
resolver
ensp
ENSP00000495093
resolver
ensp
ENSP00000495707
resolver
ensp
ENSP00000498867
resolver
ensp
ENSP00000542266
resolver
ensp
ENSP00000542268
resolver
ensp
ENSP00000605436
resolver
ensp
ENSP00000605438
resolver
ensp
ENSP00000605441
resolver
ensp
ENSP00000605443
resolver
ensp
ENSP00000623771
resolver
ensp
ENSP00000623772
resolver
ensp
ENSP00000787060
resolver
ensp
ENSP00000792125
resolver
enst
ENST00000642274
resolver
enst
ENST00000645846
resolver
enst
ENST00000650792
resolver
enst
ENST00000872207
resolver
enst
ENST00000872209
resolver
enst
ENST00000935377
resolver
enst
ENST00000935379
resolver
enst
ENST00000935382
resolver
enst
ENST00000935384
resolver
enst
ENST00000953712
resolver
enst
ENST00000953713
resolver
genesymbol
LARS2
resolver
genesymbol_syn
KIAA0028
resolver
hgnc
HGNC:17095
resolver
uniprot_entry
SYLM_HUMAN
resolver
amino_acid_sequence
MASVWQRLGFYASLLKRQLNGGPDVIKWERRVIPGCTRSIYSATGKWTKEYTLQTRKDVEKWWHQRIKEQASKISEADKSKPKFYVLSMFPYPSGKLHMGHVRVYTISDTIARFQKMRGMQVINPMGWDAFGLPAENAAVERNLHPQSWTQSNIKHMRKQLDRLGLCFSWDREITTCLPDYYKWTQYLFIKLYEAGLAYQKEALVNWDPVDQTVLANEQVDEHGCSWRSGAKVEQKYLRQWFIKTTAYAKAMQDALADLPEWYGIKGMQAHWIGDCVGCHLDFTLKVHGQATGEKLTAYTATPEAIYGTSHVAISPSHRLLHGHSSLKEALRMALVPGKDCLTPVMAVNMLTQQEVPVVILAKADLEGSLDSKIGIPSTSSEDTILAQTLGLAYSEVIETLPDGTERLSSSAEFTGMTRQDAFLALTQKARGKRVGGDVTSDKLKDWLISRQRYWGTPIPIVHCPVCGPTPVPLEDLPVTLPNIASFTGKGGPPLAMASEWVNCSCPRCKGAAKRETDTMDTFVDSAWYYFRYTDPHNPHSPFNTAVADYWMPVDLYIGGKEHAVMHLFYARFFSHFCHDQKMVKHREPFHKLLAQGLIKGQTFRLPSGQYLQREEVDLTGSVPVHAKTKEKLEVTWEKMSKSKHNGVDPEEVVEQYGIDTIRLYILFAAPPEKDILWDVKTDALPGVLRWQQRLWTLTTRFIEARASGKSPQPQLLSNKEKAEARKLWEYKNSVISQVTTHFTEDFSLNSAISQLMGLSNALSQASQSVILHSPEFEDALCALMVMAAPLAPHVTSEIWAGLALVPRKLCAHYTWDASVLLQAWPAVDPEFLQQPEVVQMAVLINNKACGKIPVPQQVARDQDKVHEFVLQSELGVRLLQGRSIKKSFLSPRTALINFLVQD
uniprot
proteins
disease_involvement
DISEASE: Perrault syndrome 4 (PRLTS4) [MIM:615300]: An autosomal recessive, sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. {ECO:0000269|PubMed:23541342}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hydrops, lactic acidosis, and sideroblastic anemia (HLASA) [MIM:617021]: A lethal, multisystem metabolic disorder characterized by severe lactic acidosis, hydrops, and sideroblastic anemia. Additional features include impaired cardiac function, disordered coagulation, pulmonary hypertension, and progressive renal disease. {ECO:0000269|PubMed:26537577}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.1.1.4
uniprot
proteins
function
FUNCTION: Catalyzes the attachment of leucine to its cognate tRNA. {ECO:0000269|PubMed:26537577}.
uniprot
proteins
mass_dalton
101976
uniprot
proteins
protein_family
Class-I aminoacyl-tRNA synthetase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20194621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23541342
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26537577
uniprot
proteins
pubmed
7584026
uniprot
proteins
sequence_length
903
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
uniprot
proteins