UniProtKB - P50747 (BPL1_HUMAN)
Protein
Biotin--protein ligase
Gene
HLCS
Organism
Homo sapiens (Human)
Status
Functioni
Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.3 Publications
Catalytic activityi
- apo-[methylmalonyl-CoA:pyruvate carboxytransferase] + ATP + biotin = AMP + diphosphate + H+ + holo-[methylmalonyl-CoA:pyruvate carboxytransferase]1 PublicationEC:6.3.4.91 PublicationThis reaction proceeds in the forward1 Publication direction.
- apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H+ + holo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)]1 PublicationEC:6.3.4.101 PublicationThis reaction proceeds in the forward1 Publication direction.
- apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] + ATP + biotin = AMP + diphosphate + H+ + holo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]1 PublicationEC:6.3.4.111 PublicationThis reaction proceeds in the forward1 Publication direction.
- ATP + biotin + L-lysyl-[protein] = AMP + diphosphate + H+ + N6-biotinyl-L-lysyl-[protein]1 PublicationEC:6.3.4.151 PublicationThis reaction proceeds in the forward1 Publication direction.
Kineticsi
- KM=224 nM for biotin1 Publication
- Vmax=143.9 pmol/min/mg enzyme1 Publication
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- biotin-[acetyl-CoA-carboxylase] ligase activity Source: GO_Central
- biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity Source: UniProtKB-EC
- biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity Source: UniProtKB-EC
- biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity Source: UniProtKB
- biotin binding Source: UniProtKB
- biotin-protein ligase activity Source: UniProtKB
- enzyme binding Source: UniProtKB
GO - Biological processi
- biotin metabolic process Source: Reactome
- histone biotinylation Source: UniProtKB
- histone modification Source: UniProtKB
- protein biotinylation Source: UniProtKB
- response to biotin Source: UniProtKB
Keywordsi
Molecular function | Ligase, Multifunctional enzyme |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | P50747 |
Reactomei | R-HSA-196780, Biotin transport and metabolism R-HSA-3371599, Defective HLCS causes multiple carboxylase deficiency |
SABIO-RKi | P50747 |
Names & Taxonomyi
Protein namesi | Recommended name: Biotin--protein ligase (EC:6.3.4.-1 Publication)Alternative name(s): Biotin apo-protein ligase Including the following 4 domains: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC:6.3.4.91 Publication) Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC:6.3.4.101 Publication) Alternative name(s): Holocarboxylase synthetase Short name: HCS Biotin--[methylcrotonoyl-CoA-carboxylase] ligase (EC:6.3.4.111 Publication) Biotin--[acetyl-CoA-carboxylase] ligase (EC:6.3.4.151 Publication) |
Gene namesi | Name:HLCSImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4976, HLCS |
MIMi | 609018, gene |
neXtProti | NX_P50747 |
VEuPathDBi | HostDB:ENSG00000159267.14 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Mitochondrion
- Mitochondrion 1 Publication
Cytosol
- cytosol Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB-SubCell
Nucleus
- nuclear lamina Source: UniProtKB
- nuclear matrix Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cytoplasm, MitochondrionPathology & Biotechi
Involvement in diseasei
Holocarboxylase synthetase deficiency (HLCS deficiency)12 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035800 | 42 | E → D in HLCS deficiency; benign variant; conserves enzymatic wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs61732504Ensembl. | 1 | |
Natural variantiVAR_046507 | 183 | R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication | 1 | |
Natural variantiVAR_021218 | 216 | L → R in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant); growth of patients' fibroblasts is compromised compared with normal fibroblasts; patients cells are not sensitive to biotin-depletion from the media; growth rates cannot be restored by re-administration of biotin; enzyme activity is severely compromised and cannot be increased by additional biotin; turn-over rate for the mutant protein is double that of wild-type enzyme. 4 PublicationsCorresponds to variant dbSNP:rs28934602Ensembl. | 1 | |
Natural variantiVAR_005084 | 237 | L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 PublicationsCorresponds to variant dbSNP:rs119103227Ensembl. | 1 | |
Natural variantiVAR_073074 | 241 | G → W in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_009196 | 333 | V → E in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant). 3 PublicationsCorresponds to variant dbSNP:rs1198548955Ensembl. | 1 | |
Natural variantiVAR_046508 | 360 | R → S in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 1 PublicationCorresponds to variant dbSNP:rs1230666123Ensembl. | 1 | |
Natural variantiVAR_046509 | 363 | V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 PublicationsCorresponds to variant dbSNP:rs769499327Ensembl. | 1 | |
Natural variantiVAR_046510 | 456 | Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756Ensembl. | 1 | |
Natural variantiVAR_009197 | 462 | T → I in HLCS deficiency; <10% activity. 1 PublicationCorresponds to variant dbSNP:rs1256356959Ensembl. | 1 | |
Natural variantiVAR_046511 | 470 | L → S in HLCS deficiency; 4.3% activity. 1 PublicationCorresponds to variant dbSNP:rs1261821166Ensembl. | 1 | |
Natural variantiVAR_073075 | 505 | G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs1555885056Ensembl. | 1 | |
Natural variantiVAR_013009 | 508 | R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229Ensembl. | 1 | |
Natural variantiVAR_021219 | 511 | N → K in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046512 | 518 | G → E in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046513 | 547 | V → G in HLCS deficiency; 3.4% activity. 1 Publication | 1 | |
Natural variantiVAR_009198 | 550 | V → M in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103231Ensembl. | 1 | |
Natural variantiVAR_009199 | 571 | D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228Ensembl. | 1 | |
Natural variantiVAR_009200 | 581 | G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230Ensembl. | 1 | |
Natural variantiVAR_021220 | 582 | G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs376899782Ensembl. | 1 | |
Natural variantiVAR_009201 | 610 | Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications | 1 | |
Natural variantiVAR_046514 | 615 | D → Y in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046515 | 634 | D → N in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs149399432Ensembl. | 1 | |
Natural variantiVAR_046516 | 634 | D → Y in HLCS deficiency; 12% activity. 1 Publication | 1 | |
Natural variantiVAR_046517 | 715 | D → G in HLCS deficiency. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 3141 |
MalaCardsi | HLCS |
MIMi | 253270, phenotype |
OpenTargetsi | ENSG00000159267 |
Orphaneti | 79242, Holocarboxylase synthetase deficiency |
PharmGKBi | PA29310 |
Miscellaneous databases
Pharosi | P50747, Tchem |
Chemistry databases
ChEMBLi | CHEMBL2062354 |
DrugBanki | DB00121, Biotin |
Genetic variation databases
BioMutai | HLCS |
DMDMi | 1705499 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000064979 | 1 – 726 | Biotin--protein ligaseAdd BLAST | 726 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 147 | PhosphoserineCombined sources | 1 | |
Modified residuei | 299 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P50747 |
jPOSTi | P50747 |
MassIVEi | P50747 |
MaxQBi | P50747 |
PaxDbi | P50747 |
PeptideAtlasi | P50747 |
PRIDEi | P50747 |
ProteomicsDBi | 56260 |
PTM databases
iPTMneti | P50747 |
PhosphoSitePlusi | P50747 |
Expressioni
Tissue specificityi
Widely expressed (PubMed:7842009, PubMed:7753853). Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung (PubMed:7842009).2 Publications
Gene expression databases
Bgeei | ENSG00000159267, Expressed in cerebral cortex and 177 other tissues |
ExpressionAtlasi | P50747, baseline and differential |
Genevisiblei | P50747, HS |
Organism-specific databases
HPAi | ENSG00000159267, Low tissue specificity |
Interactioni
Subunit structurei
Monomer.
1 PublicationBinary interactionsi
Hide detailsP50747
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109386, 25 interactors |
IntActi | P50747, 18 interactors |
MINTi | P50747 |
STRINGi | 9606.ENSP00000382071 |
Chemistry databases
BindingDBi | P50747 |
Miscellaneous databases
RNActi | P50747, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 463 – 652 | BPL/LPL catalyticPROSITE-ProRule annotationAdd BLAST | 190 |
Sequence similaritiesi
Belongs to the biotin--protein ligase family.Curated
Phylogenomic databases
eggNOGi | KOG1536, Eukaryota |
GeneTreei | ENSGT00390000002960 |
HOGENOMi | CLU_006150_2_0_1 |
InParanoidi | P50747 |
OMAi | PDLPYDH |
OrthoDBi | 1392751at2759 |
PhylomeDBi | P50747 |
TreeFami | TF105860 |
Family and domain databases
CDDi | cd16442, BPL, 1 hit |
InterProi | View protein in InterPro IPR019197, Biotin-prot_ligase_N IPR004408, Biotin_CoA_COase_ligase IPR003142, BPL_C IPR004143, BPL_LPL_catalytic |
Pfami | View protein in Pfam PF02237, BPL_C, 1 hit PF03099, BPL_LplA_LipB, 1 hit PF09825, BPL_N, 1 hit |
TIGRFAMsi | TIGR00121, birA_ligase, 1 hit |
PROSITEi | View protein in PROSITE PS51733, BPL_LPL_CATALYTIC, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
P50747-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEDRLHMDNG LVPQKIVSVH LQDSTLKEVK DQVSNKQAQI LEPKPEPSLE
60 70 80 90 100
IKPEQDGMEH VGRDDPKALG EEPKQRRGSA SGSEPAGDSD RGGGPVEHYH
110 120 130 140 150
LHLSSCHECL ELENSTIESV KFASAENIPD LPYDYSSSLE SVADETSPER
160 170 180 190 200
EGRRVNLTGK APNILLYVGS DSQEALGRFH EVRSVLADCV DIDSYILYHL
210 220 230 240 250
LEDSALRDPW TDNCLLLVIA TRESIPEDLY QKFMAYLSQG GKVLGLSSSF
260 270 280 290 300
TFGGFQVTSK GALHKTVQNL VFSKADQSEV KLSVLSSGCR YQEGPVRLSP
310 320 330 340 350
GRLQGHLENE DKDRMIVHVP FGTRGGEAVL CQVHLELPPS SNIVQTPEDF
360 370 380 390 400
NLLKSSNFRR YEVLREILTT LGLSCDMKQV PALTPLYLLS AAEEIRDPLM
410 420 430 440 450
QWLGKHVDSE GEIKSGQLSL RFVSSYVSEV EITPSCIPVV TNMEAFSSEH
460 470 480 490 500
FNLEIYRQNL QTKQLGKVIL FAEVTPTTMR LLDGLMFQTP QEMGLIVIAA
510 520 530 540 550
RQTEGKGRGG NVWLSPVGCA LSTLLISIPL RSQLGQRIPF VQHLMSVAVV
560 570 580 590 600
EAVRSIPEYQ DINLRVKWPN DIYYSDLMKI GGVLVNSTLM GETFYILIGC
610 620 630 640 650
GFNVTNSNPT ICINDLITEY NKQHKAELKP LRADYLIARV VTVLEKLIKE
660 670 680 690 700
FQDKGPNSVL PLYYRYWVHS GQQVHLGSAE GPKVSIVGLD DSGFLQVHQE
710 720
GGEVVTVHPD GNSFDMLRNL ILPKRR
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6Q8PFK4 | A0A6Q8PFK4_HUMAN | Biotin--protein ligase | HLCS | 604 | Annotation score: | ||
C9JCQ9 | C9JCQ9_HUMAN | Biotin--protein ligase | HLCS | 77 | Annotation score: | ||
A0A0C4DG27 | A0A0C4DG27_HUMAN | Biotin--protein ligase | HLCS | 92 | Annotation score: |
Sequence cautioni
The sequence AK307940 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 209 | P → T in AK307940 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 463 | K → R in BAG36868 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 558 | E → K in BAA13332 (PubMed:9037601).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035800 | 42 | E → D in HLCS deficiency; benign variant; conserves enzymatic wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs61732504Ensembl. | 1 | |
Natural variantiVAR_046507 | 183 | R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication | 1 | |
Natural variantiVAR_021218 | 216 | L → R in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant); growth of patients' fibroblasts is compromised compared with normal fibroblasts; patients cells are not sensitive to biotin-depletion from the media; growth rates cannot be restored by re-administration of biotin; enzyme activity is severely compromised and cannot be increased by additional biotin; turn-over rate for the mutant protein is double that of wild-type enzyme. 4 PublicationsCorresponds to variant dbSNP:rs28934602Ensembl. | 1 | |
Natural variantiVAR_005084 | 237 | L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 PublicationsCorresponds to variant dbSNP:rs119103227Ensembl. | 1 | |
Natural variantiVAR_073074 | 241 | G → W in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_009196 | 333 | V → E in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant). 3 PublicationsCorresponds to variant dbSNP:rs1198548955Ensembl. | 1 | |
Natural variantiVAR_046508 | 360 | R → S in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 1 PublicationCorresponds to variant dbSNP:rs1230666123Ensembl. | 1 | |
Natural variantiVAR_046509 | 363 | V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 PublicationsCorresponds to variant dbSNP:rs769499327Ensembl. | 1 | |
Natural variantiVAR_046510 | 456 | Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756Ensembl. | 1 | |
Natural variantiVAR_009197 | 462 | T → I in HLCS deficiency; <10% activity. 1 PublicationCorresponds to variant dbSNP:rs1256356959Ensembl. | 1 | |
Natural variantiVAR_046511 | 470 | L → S in HLCS deficiency; 4.3% activity. 1 PublicationCorresponds to variant dbSNP:rs1261821166Ensembl. | 1 | |
Natural variantiVAR_073075 | 505 | G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs1555885056Ensembl. | 1 | |
Natural variantiVAR_013009 | 508 | R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229Ensembl. | 1 | |
Natural variantiVAR_021219 | 511 | N → K in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046512 | 518 | G → E in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046513 | 547 | V → G in HLCS deficiency; 3.4% activity. 1 Publication | 1 | |
Natural variantiVAR_009198 | 550 | V → M in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103231Ensembl. | 1 | |
Natural variantiVAR_009199 | 571 | D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228Ensembl. | 1 | |
Natural variantiVAR_009200 | 581 | G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230Ensembl. | 1 | |
Natural variantiVAR_021220 | 582 | G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs376899782Ensembl. | 1 | |
Natural variantiVAR_009201 | 610 | Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications | 1 | |
Natural variantiVAR_046514 | 615 | D → Y in HLCS deficiency. 1 Publication | 1 | |
Natural variantiVAR_046515 | 634 | D → N in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs149399432Ensembl. | 1 | |
Natural variantiVAR_046516 | 634 | D → Y in HLCS deficiency; 12% activity. 1 Publication | 1 | |
Natural variantiVAR_046517 | 715 | D → G in HLCS deficiency. 1 Publication | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D23672 mRNA Translation: BAA04902.1 D87328 mRNA Translation: BAA13332.1 AP000697 , AP000703, AP000701, AP000698 Genomic DNA Translation: BAA89434.1 AB063285 Genomic DNA Translation: BAB68550.1 AK307940 mRNA No translation available. AK314189 mRNA Translation: BAG36868.1 AP001726 Genomic DNA Translation: BAA95510.1 AP001727 Genomic DNA Translation: BAA95511.1 CH471079 Genomic DNA Translation: EAX09731.1 CH471079 Genomic DNA Translation: EAX09732.1 BC060787 mRNA Translation: AAH60787.1 AJ001864 mRNA Translation: CAA05056.1 |
CCDSi | CCDS13647.1 |
PIRi | S50833 |
RefSeqi | NP_000402.3, NM_000411.6 NP_001229713.1, NM_001242784.1 NP_001229714.1, NM_001242785.1 XP_005261012.1, XM_005260955.3 XP_005261013.1, XM_005260956.3 XP_006724057.1, XM_006723994.2 XP_006724058.1, XM_006723995.1 XP_011527840.1, XM_011529538.1 XP_011527841.1, XM_011529539.2 XP_011527843.1, XM_011529541.2 XP_016883819.1, XM_017028330.1 |
Genome annotation databases
Ensembli | ENST00000336648; ENSP00000338387; ENSG00000159267 ENST00000399120; ENSP00000382071; ENSG00000159267 ENST00000612277; ENSP00000479939; ENSG00000159267 ENST00000674895; ENSP00000502087; ENSG00000159267 ENST00000675307; ENSP00000501750; ENSG00000159267 |
GeneIDi | 3141 |
KEGGi | hsa:3141 |
UCSCi | uc002yvs.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | D23672 mRNA Translation: BAA04902.1 D87328 mRNA Translation: BAA13332.1 AP000697 , AP000703, AP000701, AP000698 Genomic DNA Translation: BAA89434.1 AB063285 Genomic DNA Translation: BAB68550.1 AK307940 mRNA No translation available. AK314189 mRNA Translation: BAG36868.1 AP001726 Genomic DNA Translation: BAA95510.1 AP001727 Genomic DNA Translation: BAA95511.1 CH471079 Genomic DNA Translation: EAX09731.1 CH471079 Genomic DNA Translation: EAX09732.1 BC060787 mRNA Translation: AAH60787.1 AJ001864 mRNA Translation: CAA05056.1 |
CCDSi | CCDS13647.1 |
PIRi | S50833 |
RefSeqi | NP_000402.3, NM_000411.6 NP_001229713.1, NM_001242784.1 NP_001229714.1, NM_001242785.1 XP_005261012.1, XM_005260955.3 XP_005261013.1, XM_005260956.3 XP_006724057.1, XM_006723994.2 XP_006724058.1, XM_006723995.1 XP_011527840.1, XM_011529538.1 XP_011527841.1, XM_011529539.2 XP_011527843.1, XM_011529541.2 XP_016883819.1, XM_017028330.1 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 109386, 25 interactors |
IntActi | P50747, 18 interactors |
MINTi | P50747 |
STRINGi | 9606.ENSP00000382071 |
Chemistry databases
BindingDBi | P50747 |
ChEMBLi | CHEMBL2062354 |
DrugBanki | DB00121, Biotin |
PTM databases
iPTMneti | P50747 |
PhosphoSitePlusi | P50747 |
Genetic variation databases
BioMutai | HLCS |
DMDMi | 1705499 |
Proteomic databases
EPDi | P50747 |
jPOSTi | P50747 |
MassIVEi | P50747 |
MaxQBi | P50747 |
PaxDbi | P50747 |
PeptideAtlasi | P50747 |
PRIDEi | P50747 |
ProteomicsDBi | 56260 |
Protocols and materials databases
Antibodypediai | 8381, 153 antibodies |
Genome annotation databases
Ensembli | ENST00000336648; ENSP00000338387; ENSG00000159267 ENST00000399120; ENSP00000382071; ENSG00000159267 ENST00000612277; ENSP00000479939; ENSG00000159267 ENST00000674895; ENSP00000502087; ENSG00000159267 ENST00000675307; ENSP00000501750; ENSG00000159267 |
GeneIDi | 3141 |
KEGGi | hsa:3141 |
UCSCi | uc002yvs.4, human |
Organism-specific databases
CTDi | 3141 |
DisGeNETi | 3141 |
GeneCardsi | HLCS |
HGNCi | HGNC:4976, HLCS |
HPAi | ENSG00000159267, Low tissue specificity |
MalaCardsi | HLCS |
MIMi | 253270, phenotype 609018, gene |
neXtProti | NX_P50747 |
OpenTargetsi | ENSG00000159267 |
Orphaneti | 79242, Holocarboxylase synthetase deficiency |
PharmGKBi | PA29310 |
VEuPathDBi | HostDB:ENSG00000159267.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1536, Eukaryota |
GeneTreei | ENSGT00390000002960 |
HOGENOMi | CLU_006150_2_0_1 |
InParanoidi | P50747 |
OMAi | PDLPYDH |
OrthoDBi | 1392751at2759 |
PhylomeDBi | P50747 |
TreeFami | TF105860 |
Enzyme and pathway databases
PathwayCommonsi | P50747 |
Reactomei | R-HSA-196780, Biotin transport and metabolism R-HSA-3371599, Defective HLCS causes multiple carboxylase deficiency |
SABIO-RKi | P50747 |
Miscellaneous databases
BioGRID-ORCSi | 3141, 16 hits in 998 CRISPR screens |
ChiTaRSi | HLCS, human |
GenomeRNAii | 3141 |
Pharosi | P50747, Tchem |
PROi | PR:P50747 |
RNActi | P50747, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159267, Expressed in cerebral cortex and 177 other tissues |
ExpressionAtlasi | P50747, baseline and differential |
Genevisiblei | P50747, HS |
Family and domain databases
CDDi | cd16442, BPL, 1 hit |
InterProi | View protein in InterPro IPR019197, Biotin-prot_ligase_N IPR004408, Biotin_CoA_COase_ligase IPR003142, BPL_C IPR004143, BPL_LPL_catalytic |
Pfami | View protein in Pfam PF02237, BPL_C, 1 hit PF03099, BPL_LplA_LipB, 1 hit PF09825, BPL_N, 1 hit |
TIGRFAMsi | TIGR00121, birA_ligase, 1 hit |
PROSITEi | View protein in PROSITE PS51733, BPL_LPL_CATALYTIC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | BPL1_HUMAN | |
Accessioni | P50747Primary (citable) accession number: P50747 Secondary accession number(s): B2RAH1, D3DSG6, Q99451 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 1, 1996 | |
Last modified: | April 7, 2021 | |
This is version 196 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families