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Entry version 181 (13 Feb 2019)
Sequence version 1 (01 Oct 1996)
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Protein

Biotin--protein ligase

Gene

HLCS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=224 nM for biotin1 Publication
  1. Vmax=143.9 pmol/min/mg enzyme1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionLigase, Multifunctional enzyme
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P50747

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HLCS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000159267.14

Human Gene Nomenclature Database

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HGNCi
HGNC:4976 HLCS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609018 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P50747

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
See also OMIM:253270
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03580042E → 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_046507183R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication1
Natural variantiVAR_021218216L → 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_005084237L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 PublicationsCorresponds to variant dbSNP:rs119103227EnsemblClinVar.1
Natural variantiVAR_073074241G → W in HLCS deficiency. 1 Publication1
Natural variantiVAR_009196333V → 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_046508360R → 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_046509363V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 PublicationsCorresponds to variant dbSNP:rs769499327EnsemblClinVar.1
Natural variantiVAR_046510456Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756EnsemblClinVar.1
Natural variantiVAR_009197462T → I in HLCS deficiency; <10% activity. 1 PublicationCorresponds to variant dbSNP:rs1256356959Ensembl.1
Natural variantiVAR_046511470L → S in HLCS deficiency; 4.3% activity. 1 PublicationCorresponds to variant dbSNP:rs1261821166Ensembl.1
Natural variantiVAR_073075505G → R in HLCS deficiency. 1 Publication1
Natural variantiVAR_013009508R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229EnsemblClinVar.1
Natural variantiVAR_021219511N → K in HLCS deficiency. 1 Publication1
Natural variantiVAR_046512518G → E in HLCS deficiency. 1 Publication1
Natural variantiVAR_046513547V → G in HLCS deficiency; 3.4% activity. 1 Publication1
Natural variantiVAR_009198550V → M in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103231EnsemblClinVar.1
Natural variantiVAR_009199571D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228EnsemblClinVar.1
Natural variantiVAR_009200581G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230EnsemblClinVar.1
Natural variantiVAR_021220582G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs376899782Ensembl.1
Natural variantiVAR_009201610Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications1
Natural variantiVAR_046514615D → Y in HLCS deficiency. 1 Publication1
Natural variantiVAR_046515634D → N in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs149399432EnsemblClinVar.1
Natural variantiVAR_046516634D → Y in HLCS deficiency; 12% activity. 1 Publication1
Natural variantiVAR_046517715D → G in HLCS deficiency. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3141

MalaCards human disease database

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MalaCardsi
HLCS
MIMi253270 phenotype

Open Targets

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OpenTargetsi
ENSG00000159267

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
79242 Holocarboxylase synthetase deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29310

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2062354

Drug and drug target database

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DrugBanki
DB00121 Biotin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HLCS

Domain mapping of disease mutations (DMDM)

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DMDMi
1705499

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000649791 – 726Biotin--protein ligaseAdd BLAST726

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei147PhosphoserineCombined sources1
Modified residuei299PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P50747

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P50747

MaxQB - The MaxQuant DataBase

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MaxQBi
P50747

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P50747

PeptideAtlas

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PeptideAtlasi
P50747

PRoteomics IDEntifications database

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PRIDEi
P50747

ProteomicsDB human proteome resource

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ProteomicsDBi
56260

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P50747

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P50747

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000159267 Expressed in 159 organ(s), highest expression level in cerebral cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P50747 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P50747 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA017379

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109386, 13 interactors

Protein interaction database and analysis system

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IntActi
P50747, 16 interactors

Molecular INTeraction database

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MINTi
P50747

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338387

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P50747

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P50747

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini463 – 652BPL/LPL catalyticPROSITE-ProRule annotationAdd BLAST190

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the biotin--protein ligase family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1536 Eukaryota
COG0340 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000002960

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000095254

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004872

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P50747

KEGG Orthology (KO)

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KOi
K01942

Identification of Orthologs from Complete Genome Data

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OMAi
RDPLMQW

Database of Orthologous Groups

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OrthoDBi
1392751at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P50747

TreeFam database of animal gene trees

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TreeFami
TF105860

Family and domain databases

Conserved Domains Database

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CDDi
cd16442 BPL, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019197 Biotin-prot_ligase_N
IPR004408 Biotin_CoA_COase_ligase
IPR003142 BPL_C
IPR004143 BPL_LPL_catalytic

The PANTHER Classification System

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PANTHERi
PTHR12835:SF5 PTHR12835:SF5, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02237 BPL_C, 1 hit
PF03099 BPL_LplA_LipB, 1 hit
PF09825 BPL_N, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00121 birA_ligase, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51733 BPL_LPL_CATALYTIC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i855B8E52106D675F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DG27A0A0C4DG27_HUMAN
Biotin--protein ligase
HLCS
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JCQ9C9JCQ9_HUMAN
Biotin--protein ligase
HLCS
77Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JD75C9JD75_HUMAN
Biotin--protein ligase
HLCS
233Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti209P → T in AK307940 (PubMed:14702039).Curated1
Sequence conflicti463K → R in BAG36868 (PubMed:14702039).Curated1
Sequence conflicti558E → K in BAA13332 (PubMed:9037601).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03580042E → 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_046507183R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication1
Natural variantiVAR_021218216L → 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_005084237L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 PublicationsCorresponds to variant dbSNP:rs119103227EnsemblClinVar.1
Natural variantiVAR_073074241G → W in HLCS deficiency. 1 Publication1
Natural variantiVAR_009196333V → 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_046508360R → 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_046509363V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 PublicationsCorresponds to variant dbSNP:rs769499327EnsemblClinVar.1
Natural variantiVAR_046510456Y → C in HLCS deficiency; 0.2% activity. 1 PublicationCorresponds to variant dbSNP:rs781603756EnsemblClinVar.1
Natural variantiVAR_009197462T → I in HLCS deficiency; <10% activity. 1 PublicationCorresponds to variant dbSNP:rs1256356959Ensembl.1
Natural variantiVAR_046511470L → S in HLCS deficiency; 4.3% activity. 1 PublicationCorresponds to variant dbSNP:rs1261821166Ensembl.1
Natural variantiVAR_073075505G → R in HLCS deficiency. 1 Publication1
Natural variantiVAR_013009508R → W in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103229EnsemblClinVar.1
Natural variantiVAR_021219511N → K in HLCS deficiency. 1 Publication1
Natural variantiVAR_046512518G → E in HLCS deficiency. 1 Publication1
Natural variantiVAR_046513547V → G in HLCS deficiency; 3.4% activity. 1 Publication1
Natural variantiVAR_009198550V → M in HLCS deficiency. 4 PublicationsCorresponds to variant dbSNP:rs119103231EnsemblClinVar.1
Natural variantiVAR_009199571D → N in HLCS deficiency; almost no activity. 2 PublicationsCorresponds to variant dbSNP:rs119103228EnsemblClinVar.1
Natural variantiVAR_009200581G → S in HLCS deficiency; <10% activity. 4 PublicationsCorresponds to variant dbSNP:rs119103230EnsemblClinVar.1
Natural variantiVAR_021220582G → R in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs376899782Ensembl.1
Natural variantiVAR_009201610Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications1
Natural variantiVAR_046514615D → Y in HLCS deficiency. 1 Publication1
Natural variantiVAR_046515634D → N in HLCS deficiency. 1 PublicationCorresponds to variant dbSNP:rs149399432EnsemblClinVar.1
Natural variantiVAR_046516634D → Y in HLCS deficiency; 12% activity. 1 Publication1
Natural variantiVAR_046517715D → G in HLCS deficiency. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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CCDSi
CCDS13647.1

Protein sequence database of the Protein Information Resource

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PIRi
S50833

NCBI Reference Sequences

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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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.371350
Hs.732538

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000336648; ENSP00000338387; ENSG00000159267
ENST00000399120; ENSP00000382071; ENSG00000159267
ENST00000612277; ENSP00000479939; ENSG00000159267

Database of genes from NCBI RefSeq genomes

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GeneIDi
3141

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3141

UCSC genome browser

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UCSCi
uc002yvs.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS13647.1
PIRiS50833
RefSeqiNP_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
UniGeneiHs.371350
Hs.732538

3D structure databases

ProteinModelPortaliP50747
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109386, 13 interactors
IntActiP50747, 16 interactors
MINTiP50747
STRINGi9606.ENSP00000338387

Chemistry databases

BindingDBiP50747
ChEMBLiCHEMBL2062354
DrugBankiDB00121 Biotin

PTM databases

iPTMnetiP50747
PhosphoSitePlusiP50747

Polymorphism and mutation databases

BioMutaiHLCS
DMDMi1705499

Proteomic databases

EPDiP50747
jPOSTiP50747
MaxQBiP50747
PaxDbiP50747
PeptideAtlasiP50747
PRIDEiP50747
ProteomicsDBi56260

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336648; ENSP00000338387; ENSG00000159267
ENST00000399120; ENSP00000382071; ENSG00000159267
ENST00000612277; ENSP00000479939; ENSG00000159267
GeneIDi3141
KEGGihsa:3141
UCSCiuc002yvs.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3141
DisGeNETi3141
EuPathDBiHostDB:ENSG00000159267.14

GeneCards: human genes, protein and diseases

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GeneCardsi
HLCS
HGNCiHGNC:4976 HLCS
HPAiHPA017379
MalaCardsiHLCS
MIMi253270 phenotype
609018 gene
neXtProtiNX_P50747
OpenTargetsiENSG00000159267
Orphaneti79242 Holocarboxylase synthetase deficiency
PharmGKBiPA29310

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1536 Eukaryota
COG0340 LUCA
GeneTreeiENSGT00390000002960
HOGENOMiHOG000095254
HOVERGENiHBG004872
InParanoidiP50747
KOiK01942
OMAiRDPLMQW
OrthoDBi1392751at2759
PhylomeDBiP50747
TreeFamiTF105860

Enzyme and pathway databases

ReactomeiR-HSA-196780 Biotin transport and metabolism
R-HSA-3371599 Defective HLCS causes multiple carboxylase deficiency
SABIO-RKiP50747

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HLCS human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3141

Protein Ontology

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PROi
PR:P50747

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000159267 Expressed in 159 organ(s), highest expression level in cerebral cortex
ExpressionAtlasiP50747 baseline and differential
GenevisibleiP50747 HS

Family and domain databases

CDDicd16442 BPL, 1 hit
InterProiView protein in InterPro
IPR019197 Biotin-prot_ligase_N
IPR004408 Biotin_CoA_COase_ligase
IPR003142 BPL_C
IPR004143 BPL_LPL_catalytic
PANTHERiPTHR12835:SF5 PTHR12835:SF5, 1 hit
PfamiView protein in Pfam
PF02237 BPL_C, 1 hit
PF03099 BPL_LplA_LipB, 1 hit
PF09825 BPL_N, 1 hit
TIGRFAMsiTIGR00121 birA_ligase, 1 hit
PROSITEiView protein in PROSITE
PS51733 BPL_LPL_CATALYTIC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBPL1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P50747
Secondary accession number(s): B2RAH1, D3DSG6, Q99451
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: February 13, 2019
This is version 181 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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