HLCS
entrez
3141
canonical
uniprot
P50747
canonical
ensembl
ENSG00000159267
resolver
ensp
ENSP00000338387
resolver
ensp
ENSP00000382071
resolver
ensp
ENSP00000479939
resolver
ensp
ENSP00000501750
resolver
ensp
ENSP00000501832
resolver
ensp
ENSP00000502087
resolver
ensp
ENSP00000752828
resolver
ensp
ENSP00000781203
resolver
ensp
ENSP00000781741
resolver
enst
ENST00000674895
resolver
genesymbol
HLCS
resolver
hgnc
HGNC:4976
resolver
uniprot
A0A8C8QSB1
resolver
uniprot
B2RAH1
resolver
uniprot
D3DSG6
resolver
uniprot
Q99451
resolver
uniprot_entry
A0A8C8QSB1_HUMAN
resolver
uniprot_entry
BPL1_HUMAN
resolver
uniprot_sec
B2RAH1
resolver
uniprot_sec
D3DSG6
resolver
uniprot_sec
Q99451
resolver
amino_acid_sequence
MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHVGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQGGKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSPGRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLRFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPFVQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGCGFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVLPLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNLILPKRR
uniprot
proteins
disease_involvement
DISEASE: Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. {ECO:0000269|PubMed:10190325, ECO:0000269|PubMed:10590022, ECO:0000269|PubMed:11735028, ECO:0000269|PubMed:12124727, ECO:0000269|PubMed:12633764, ECO:0000269|PubMed:16134170, ECO:0000269|PubMed:20095979, ECO:0000269|PubMed:25690727, ECO:0000269|PubMed:7842009, ECO:0000269|PubMed:8541348, ECO:0000269|PubMed:8817339, ECO:0000269|PubMed:9396568}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.4.-
uniprot
proteins
ec_number
6.3.4.10
uniprot
proteins
ec_number
6.3.4.11
uniprot
proteins
ec_number
6.3.4.15
uniprot
proteins
ec_number
6.3.4.9
uniprot
proteins
function
FUNCTION: Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase. {ECO:0000269|PubMed:10590022, ECO:0000269|PubMed:7753853, ECO:0000269|PubMed:7842009}.
uniprot
proteins
mass_dalton
80760
uniprot
proteins
protein_family
Biotin--protein ligase family
uniprot
proteins
pubmed
10190325
uniprot
proteins
pubmed
10590022
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11735028
uniprot
proteins
pubmed
12124727
uniprot
proteins
pubmed
12633764
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16134170
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18429047
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20095979
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25690727
uniprot
proteins
pubmed
7753853
uniprot
proteins
pubmed
7842009
uniprot
proteins
pubmed
8541348
uniprot
proteins
pubmed
8817339
uniprot
proteins
pubmed
9037601
uniprot
proteins
pubmed
9396568
uniprot
proteins
pubmed
9503011
uniprot
proteins
sequence_length
726
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:7842009}. Mitochondrion {ECO:0000305|PubMed:7842009}.
uniprot
proteins