HLCS

Functionⁱ

Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase.

Catalytic activityⁱ

ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl-CoA:pyruvate carboxytransferase].

ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl-CoA:carbon-dioxide ligase (ADP-forming)].

ATP + biotin + apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].

ATP + biotin + [biotin carboxyl-carrier protein]-L-lysine = AMP + diphosphate + [biotin carboxyl-carrier protein]-N₆-biotinyl-L-lysine.

Kineticsⁱ

K_M=
224 nM for biotin
1 Publication
Manual assertion based on experiment inⁱ
- Ref.18
  "Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency."
  Sakamoto O., Suzuki Y., Li X., Aoki Y., Hiratsuka M., Suormala T., Baumgartner E.R., Gibson K.M., Narisawa K.
  Pediatr. Res. 46:671-676(1999) [PubMed] [Europe PMC] [Abstract]
  Cited for: BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS HLCS DEFICIENCY PRO-183; ARG-216; PRO-237; GLU-333; ASP-363; SER-581 AND THR-610 DEL, CHARACTERIZATION OF VARIANTS HLCS DEFICIENCY PRO-183; ARG-216; PRO-237; GLU-333; ASP-363; SER-581 AND THR-610 DEL.

V_max=
143.9 pmol/min/mg enzyme
1 Publication
Manual assertion based on experiment inⁱ
- Ref.18
  "Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency."
  Sakamoto O., Suzuki Y., Li X., Aoki Y., Hiratsuka M., Suormala T., Baumgartner E.R., Gibson K.M., Narisawa K.
  Pediatr. Res. 46:671-676(1999) [PubMed] [Europe PMC] [Abstract]
  Cited for: BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS HLCS DEFICIENCY PRO-183; ARG-216; PRO-237; GLU-333; ASP-363; SER-581 AND THR-610 DEL, CHARACTERIZATION OF VARIANTS HLCS DEFICIENCY PRO-183; ARG-216; PRO-237; GLU-333; ASP-363; SER-581 AND THR-610 DEL.

GO - Molecular functionⁱ

ATP binding Source: UniProtKB-KW
biotin-[acetyl-CoA-carboxylase] ligase activity Source: UniProtKB-EC
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
Inferred from direct assayⁱ
- 7842009
biotin binding
Source: UniProtKB
Inferred from direct assayⁱ
- 14613969
biotin-protein ligase activity
Source: UniProtKB
Inferred from direct assayⁱ
- 9630604
enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19157941
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

biotin metabolic process Source: Reactome
cell proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 18429047
histone biotinylation
Source: UniProtKB
Inferred from direct assayⁱ
- 14613969
histone modification
Source: UniProtKB
Inferred from direct assayⁱ
- 14613969
protein biotinylation
Source: UniProtKB
Inferred from direct assayⁱ
- 7842009
response to biotin
Source: UniProtKB
Inferred from direct assayⁱ
- 17904341

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Ligase, Multifunctional enzyme
Ligand	ATP-binding, Nucleotide-binding

Enzyme and pathway databases

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.-) Alternative name(s): Biotin apo-protein ligase Including the following 4 domains: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC:6.3.4.9) Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC:6.3.4.10) Alternative name(s): Holocarboxylase synthetase Short name: HCS Biotin--[methylcrotonoyl-CoA-carboxylase] ligase (EC:6.3.4.11) Biotin--[acetyl-CoA-carboxylase] ligase (EC:6.3.4.15)
Gene namesⁱ	Name:HLCS
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 21

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000159267.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4976 HLCS
MIMⁱ	609018 gene
neXtProtⁱ	NX_P50747

Keywords - Cellular componentⁱ

Cytoplasm, Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Holocarboxylase synthetase deficiency (HLCS deficiency)12 Publications

The disease is caused by mutations 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.

Feature key	Position(s)	DescriptionActions	Length
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:rs28934602EnsemblClinVar.	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:rs119103227EnsemblClinVar.	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 Publications	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 Publication	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:rs769499327EnsemblClinVar.	1
Natural variantⁱVAR_046510	456	Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756EnsemblClinVar.	1
Natural variantⁱVAR_009197	462	T → I in HLCS deficiency; <10% activity. 1 Publication	1
Natural variantⁱVAR_046511	470	L → S in HLCS deficiency; 4.3% activity. 1 Publication	1
Natural variantⁱVAR_073075	505	G → R in HLCS deficiency. 1 Publication	1
Natural variantⁱVAR_013009	508	R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229EnsemblClinVar.	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:rs119103231EnsemblClinVar.	1
Natural variantⁱVAR_009199	571	D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228EnsemblClinVar.	1
Natural variantⁱVAR_009200	581	G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230EnsemblClinVar.	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:rs149399432EnsemblClinVar.	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 mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3141
MalaCards human disease database More...MalaCardsⁱ	HLCS
MIMⁱ	253270 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000159267
Orphanetⁱ	79242 Holocarboxylase synthetase deficiency
PharmGKBⁱ	PA29310

Chemistry databases

ChEMBLⁱ	CHEMBL2062354
Drug and drug target database More...DrugBankⁱ	DB00121 Biotin

Polymorphism and mutation 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

Phosphoprotein

Proteomic databases

EPDⁱ	P50747
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P50747
PaxDbⁱ	P50747
PeptideAtlas More...PeptideAtlasⁱ	P50747
PRIDEⁱ	P50747
ProteomicsDBⁱ	56260

PTM databases

iPTMnetⁱ	P50747
PhosphoSitePlusⁱ	P50747

Expressionⁱ

Tissue specificityⁱ

Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.

Gene expression databases

Bgeeⁱ	ENSG00000159267 Expressed in 159 organ(s), highest expression level in cerebral cortex
CleanExⁱ	HS_HLCS
ExpressionAtlasⁱ	P50747 baseline and differential
Genevisibleⁱ	P50747 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA017379

HPAⁱ

HPA017379

Interactionⁱ

Subunit structureⁱ

Monomer.

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ACACB	O00763	4	EBI-3915568,EBI-2211739
POT1	Q9NUX5	2	EBI-3915568,EBI-752420

GO - Molecular functionⁱ

enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19157941
protein homodimerization activity Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	109386, 9 interactors
IntActⁱ	P50747, 14 interactors
Molecular INTeraction database More...MINTⁱ	P50747
STRINGⁱ	9606.ENSP00000338387

Chemistry databases

BindingDBⁱ

P50747

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P50747
ModBaseⁱ	Search...
MobiDBⁱ	Search...

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 COG0340 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000002960
HOGENOMⁱ	HOG000095254
HOVERGENⁱ	HBG004872
InParanoidⁱ	P50747
KEGG Orthology (KO) More...KOⁱ	K01942
OMAⁱ	RDPLMQW
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0G5R
PhylomeDBⁱ	P50747
TreeFamⁱ	TF105860

Family and domain databases

Conserved Domains Database More...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
PANTHERⁱ	PTHR12835:SF5 PTHR12835:SF5, 1 hit
Pfam protein domain database More...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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show all Align All

P50747-1 [UniParc]FASTA Add to basket

« Hide

        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

Length:726

Mass (Da):80,760

Last modified:October 1, 1996 - v1

Checksum:ⁱ855B8E52106D675F

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

C9JCQ9	C9JCQ9_HUMAN	Biotin--protein ligase Biotin--protein ligase	HLCS	77	Annotation score:
A0A0C4DG27	A0A0C4DG27_HUMAN	Biotin--protein ligase Biotin--protein ligase	HLCS	92	Annotation score:
C9JD75	C9JD75_HUMAN	Biotin--protein ligase Biotin--protein ligase	HLCS	233	Annotation score:

Sequence cautionⁱ

The sequence AK307940 differs from that shown. Reason: Frameshift at position 169.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	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	Length
Natural variantⁱVAR_035800	42	E → D in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzymatic wild-type activity; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61732504EnsemblClinVar.	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:rs28934602EnsemblClinVar.	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:rs119103227EnsemblClinVar.	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 Publications	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 Publication	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:rs769499327EnsemblClinVar.	1
Natural variantⁱVAR_046510	456	Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756EnsemblClinVar.	1
Natural variantⁱVAR_009197	462	T → I in HLCS deficiency; <10% activity. 1 Publication	1
Natural variantⁱVAR_046511	470	L → S in HLCS deficiency; 4.3% activity. 1 Publication	1
Natural variantⁱVAR_073075	505	G → R in HLCS deficiency. 1 Publication	1
Natural variantⁱVAR_013009	508	R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229EnsemblClinVar.	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:rs119103231EnsemblClinVar.	1
Natural variantⁱVAR_009199	571	D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228EnsemblClinVar.	1
Natural variantⁱVAR_009200	581	G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230EnsemblClinVar.	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:rs149399432EnsemblClinVar.	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS13647.1
PIRⁱ	S50833
NCBI Reference Sequences More...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
UniGeneⁱ	Hs.371350 Hs.732538

Genome annotation databases

Ensemblⁱ	ENST00000336648; ENSP00000338387; ENSG00000159267 ENST00000399120; ENSP00000382071; ENSG00000159267 ENST00000612277; ENSP00000479939; ENSG00000159267
GeneIDⁱ	3141
KEGGⁱ	hsa:3141
UCSC genome browser More...UCSCⁱ	uc002yvs.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P50747	Biotin--protein ligase (Fragment)		HUMAN		233	UniRef100_P50747
UPI000387BCD7		HUMAN		873
UPI000D0C7E63		HUMAN		669

Protein	Similar proteins		Species	Score	Length	Source
P50747	Biotin--protein ligase (Fragment)		HUMAN		233	UniRef90_P50747
Uncharacterized protein		CERAT		874
Uncharacterized protein		PAPAN		874
Uncharacterized protein		MACFA		874
Uncharacterized protein		MACMU		484
+50

Protein	Similar proteins		Species	Score	Length	Source
P50747	Biotin--protein ligase		MOUSE		722	UniRef50_P50747
Biotin--protein ligase (Fragment)		HUMAN		233
Uncharacterized protein		MACNE		874
Uncharacterized protein		MACFA		874
Uncharacterized protein		MACMU		484
+232

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
UniGeneⁱ	Hs.371350 Hs.732538

3D structure databases

ProteinModelPortalⁱ	P50747
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109386, 9 interactors
IntActⁱ	P50747, 14 interactors
MINTⁱ	P50747
STRINGⁱ	9606.ENSP00000338387

Chemistry databases

BindingDBⁱ	P50747
ChEMBLⁱ	CHEMBL2062354
DrugBankⁱ	DB00121 Biotin

PTM databases

iPTMnetⁱ	P50747
PhosphoSitePlusⁱ	P50747

Polymorphism and mutation databases

BioMutaⁱ	HLCS
DMDMⁱ	1705499

Proteomic databases

EPDⁱ	P50747
MaxQBⁱ	P50747
PaxDbⁱ	P50747
PeptideAtlasⁱ	P50747
PRIDEⁱ	P50747
ProteomicsDBⁱ	56260

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000336648; ENSP00000338387; ENSG00000159267 ENST00000399120; ENSP00000382071; ENSG00000159267 ENST00000612277; ENSP00000479939; ENSG00000159267
GeneIDⁱ	3141
KEGGⁱ	hsa:3141
UCSCⁱ	uc002yvs.4 human

Organism-specific databases

CTDⁱ	3141
DisGeNETⁱ	3141
EuPathDBⁱ	HostDB:ENSG00000159267.14
GeneCardsⁱ	HLCS
HGNCⁱ	HGNC:4976 HLCS
HPAⁱ	HPA017379
MalaCardsⁱ	HLCS
MIMⁱ	253270 phenotype 609018 gene
neXtProtⁱ	NX_P50747
OpenTargetsⁱ	ENSG00000159267
Orphanetⁱ	79242 Holocarboxylase synthetase deficiency
PharmGKBⁱ	PA29310
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1536 Eukaryota COG0340 LUCA
GeneTreeⁱ	ENSGT00390000002960
HOGENOMⁱ	HOG000095254
HOVERGENⁱ	HBG004872
InParanoidⁱ	P50747
KOⁱ	K01942
OMAⁱ	RDPLMQW
OrthoDBⁱ	EOG091G0G5R
PhylomeDBⁱ	P50747
TreeFamⁱ	TF105860

Enzyme and pathway databases

Reactomeⁱ	R-HSA-196780 Biotin transport and metabolism R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
SABIO-RKⁱ	P50747

Miscellaneous databases

ChiTaRSⁱ	HLCS human
GenomeRNAiⁱ	3141
Protein Ontology More...PROⁱ	PR:P50747
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000159267 Expressed in 159 organ(s), highest expression level in cerebral cortex
CleanExⁱ	HS_HLCS
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
PANTHERⁱ	PTHR12835:SF5 PTHR12835:SF5, 1 hit
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...

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:	November 7, 2018
	This is version 178 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM

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UniProtKB - P50747 (BPL1_HUMAN)

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Biotin--protein ligase

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Keywords - Coding sequence diversityi

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

Kineticsⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ