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P50747

- BPL1_HUMAN

UniProt

P50747 - BPL1_HUMAN

Protein

Biotin--protein ligase

Gene

HLCS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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 + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)].

    Kineticsi

    1. KM=224 nM for biotin1 Publication

    Vmax=143.9 pmol/min/mg enzyme1 Publication

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. biotin-[acetyl-CoA-carboxylase] ligase activity Source: UniProtKB-EC
    3. biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity Source: UniProtKB-EC
    4. biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity Source: UniProtKB-EC
    5. biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity Source: UniProtKB
    6. biotin binding Source: UniProtKB
    7. biotin-protein ligase activity Source: UniProtKB
    8. enzyme binding Source: UniProtKB
    9. protein binding Source: IntAct

    GO - Biological processi

    1. biotin metabolic process Source: Reactome
    2. cell proliferation Source: UniProtKB
    3. histone biotinylation Source: UniProtKB
    4. histone modification Source: UniProtKB
    5. protein biotinylation Source: UniProtKB
    6. response to biotin Source: UniProtKB
    7. small molecule metabolic process Source: Reactome
    8. vitamin metabolic process Source: Reactome
    9. water-soluble vitamin metabolic process Source: Reactome

    Keywords - Molecular functioni

    Ligase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_11153. Biotin transport and metabolism.

    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
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:4976. HLCS.

    Subcellular locationi

    GO - Cellular componenti

    1. chromatin Source: UniProtKB
    2. cytoplasm Source: HPA
    3. cytosol Source: UniProtKB
    4. mitochondrion Source: UniProtKB-SubCell
    5. nuclear lamina Source: UniProtKB
    6. nuclear matrix Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421E → D in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzymatic wild-type activity; unknown pathological significance. 2 Publications
    Corresponds to variant rs61732504 [ dbSNP | Ensembl ].
    VAR_035800
    Natural varianti183 – 1831R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication
    VAR_046507
    Natural varianti216 – 2161L → 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. 3 Publications
    Corresponds to variant rs28934602 [ dbSNP | Ensembl ].
    VAR_021218
    Natural varianti237 – 2371L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 Publications
    VAR_005084
    Natural varianti333 – 3331V → E in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant). 3 Publications
    VAR_009196
    Natural varianti360 – 3601R → S in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 1 Publication
    VAR_046508
    Natural varianti363 – 3631V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 Publications
    VAR_046509
    Natural varianti456 – 4561Y → C in HLCS deficiency; 0.2% activity. 1 Publication
    VAR_046510
    Natural varianti462 – 4621T → I in HLCS deficiency; <10% activity. 1 Publication
    VAR_009197
    Natural varianti470 – 4701L → S in HLCS deficiency; 4.3% activity. 1 Publication
    VAR_046511
    Natural varianti508 – 5081R → W in HLCS deficiency. 3 Publications
    VAR_013009
    Natural varianti511 – 5111N → K in HLCS deficiency. 1 Publication
    VAR_021219
    Natural varianti518 – 5181G → E in HLCS deficiency. 1 Publication
    VAR_046512
    Natural varianti547 – 5471V → G in HLCS deficiency; 3.4% activity. 1 Publication
    VAR_046513
    Natural varianti550 – 5501V → M in HLCS deficiency. 4 Publications
    VAR_009198
    Natural varianti571 – 5711D → N in HLCS deficiency; almost no activity. 2 Publications
    VAR_009199
    Natural varianti581 – 5811G → S in HLCS deficiency; <10% activity. 4 Publications
    VAR_009200
    Natural varianti582 – 5821G → R in HLCS deficiency. 1 Publication
    Corresponds to variant rs376899782 [ dbSNP | Ensembl ].
    VAR_021220
    Natural varianti610 – 6101Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications
    VAR_009201
    Natural varianti615 – 6151D → Y in HLCS deficiency. 1 Publication
    VAR_046514
    Natural varianti634 – 6341D → N in HLCS deficiency. 1 Publication
    Corresponds to variant rs149399432 [ dbSNP | Ensembl ].
    VAR_046515
    Natural varianti634 – 6341D → Y in HLCS deficiency; 12% activity. 1 Publication
    VAR_046516
    Natural varianti715 – 7151D → G in HLCS deficiency. 1 Publication
    VAR_046517

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi253270. phenotype.
    Orphaneti79242. Holocarboxylase synthetase deficiency.
    PharmGKBiPA29310.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 726726Biotin--protein ligasePRO_0000064979Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei147 – 1471Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP50747.
    PaxDbiP50747.
    PRIDEiP50747.

    PTM databases

    PhosphoSiteiP50747.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiP50747.
    BgeeiP50747.
    CleanExiHS_HLCS.
    GenevestigatoriP50747.

    Organism-specific databases

    HPAiHPA017379.

    Interactioni

    Subunit structurei

    Monomer.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ACACBO007634EBI-3915568,EBI-2211739

    Protein-protein interaction databases

    BioGridi109386. 7 interactions.
    IntActiP50747. 3 interactions.
    MINTiMINT-3018588.
    STRINGi9606.ENSP00000338387.

    Structurei

    3D structure databases

    ProteinModelPortaliP50747.
    SMRiP50747. Positions 460-707.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the biotin--protein ligase family.Curated

    Phylogenomic databases

    eggNOGiCOG0340.
    HOGENOMiHOG000095254.
    HOVERGENiHBG004872.
    InParanoidiP50747.
    KOiK01942.
    OMAiNLQTKQL.
    OrthoDBiEOG7SV0TT.
    PhylomeDBiP50747.
    TreeFamiTF105860.

    Family and domain databases

    InterProiIPR004408. Biotin_CoA_COase_ligase.
    IPR003142. BPL_C.
    IPR004143. BPL_LipA_LipB.
    [Graphical view]
    PANTHERiPTHR12835. PTHR12835. 1 hit.
    PfamiPF02237. BPL_C. 1 hit.
    PF03099. BPL_LplA_LipB. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR00121. birA_ligase. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P50747-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEDRLHMDNG LVPQKIVSVH LQDSTLKEVK DQVSNKQAQI LEPKPEPSLE    50
    IKPEQDGMEH VGRDDPKALG EEPKQRRGSA SGSEPAGDSD RGGGPVEHYH 100
    LHLSSCHECL ELENSTIESV KFASAENIPD LPYDYSSSLE SVADETSPER 150
    EGRRVNLTGK APNILLYVGS DSQEALGRFH EVRSVLADCV DIDSYILYHL 200
    LEDSALRDPW TDNCLLLVIA TRESIPEDLY QKFMAYLSQG GKVLGLSSSF 250
    TFGGFQVTSK GALHKTVQNL VFSKADQSEV KLSVLSSGCR YQEGPVRLSP 300
    GRLQGHLENE DKDRMIVHVP FGTRGGEAVL CQVHLELPPS SNIVQTPEDF 350
    NLLKSSNFRR YEVLREILTT LGLSCDMKQV PALTPLYLLS AAEEIRDPLM 400
    QWLGKHVDSE GEIKSGQLSL RFVSSYVSEV EITPSCIPVV TNMEAFSSEH 450
    FNLEIYRQNL QTKQLGKVIL FAEVTPTTMR LLDGLMFQTP QEMGLIVIAA 500
    RQTEGKGRGG NVWLSPVGCA LSTLLISIPL RSQLGQRIPF VQHLMSVAVV 550
    EAVRSIPEYQ DINLRVKWPN DIYYSDLMKI GGVLVNSTLM GETFYILIGC 600
    GFNVTNSNPT ICINDLITEY NKQHKAELKP LRADYLIARV VTVLEKLIKE 650
    FQDKGPNSVL PLYYRYWVHS GQQVHLGSAE GPKVSIVGLD DSGFLQVHQE 700
    GGEVVTVHPD GNSFDMLRNL ILPKRR 726
    Length:726
    Mass (Da):80,760
    Last modified:October 1, 1996 - v1
    Checksum:i855B8E52106D675F
    GO

    Sequence cautioni

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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti209 – 2091P → T in AK307940. (PubMed:14702039)Curated
    Sequence conflicti463 – 4631K → R in BAG36868. (PubMed:14702039)Curated
    Sequence conflicti558 – 5581E → K in BAA13332. (PubMed:9037601)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421E → D in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzymatic wild-type activity; unknown pathological significance. 2 Publications
    Corresponds to variant rs61732504 [ dbSNP | Ensembl ].
    VAR_035800
    Natural varianti183 – 1831R → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 1 Publication
    VAR_046507
    Natural varianti216 – 2161L → 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. 3 Publications
    Corresponds to variant rs28934602 [ dbSNP | Ensembl ].
    VAR_021218
    Natural varianti237 – 2371L → P in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 5 Publications
    VAR_005084
    Natural varianti333 – 3331V → E in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant). 3 Publications
    VAR_009196
    Natural varianti360 – 3601R → S in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 1 Publication
    VAR_046508
    Natural varianti363 – 3631V → D in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant). 2 Publications
    VAR_046509
    Natural varianti456 – 4561Y → C in HLCS deficiency; 0.2% activity. 1 Publication
    VAR_046510
    Natural varianti462 – 4621T → I in HLCS deficiency; <10% activity. 1 Publication
    VAR_009197
    Natural varianti470 – 4701L → S in HLCS deficiency; 4.3% activity. 1 Publication
    VAR_046511
    Natural varianti508 – 5081R → W in HLCS deficiency. 3 Publications
    VAR_013009
    Natural varianti511 – 5111N → K in HLCS deficiency. 1 Publication
    VAR_021219
    Natural varianti518 – 5181G → E in HLCS deficiency. 1 Publication
    VAR_046512
    Natural varianti547 – 5471V → G in HLCS deficiency; 3.4% activity. 1 Publication
    VAR_046513
    Natural varianti550 – 5501V → M in HLCS deficiency. 4 Publications
    VAR_009198
    Natural varianti571 – 5711D → N in HLCS deficiency; almost no activity. 2 Publications
    VAR_009199
    Natural varianti581 – 5811G → S in HLCS deficiency; <10% activity. 4 Publications
    VAR_009200
    Natural varianti582 – 5821G → R in HLCS deficiency. 1 Publication
    Corresponds to variant rs376899782 [ dbSNP | Ensembl ].
    VAR_021220
    Natural varianti610 – 6101Missing in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form. 3 Publications
    VAR_009201
    Natural varianti615 – 6151D → Y in HLCS deficiency. 1 Publication
    VAR_046514
    Natural varianti634 – 6341D → N in HLCS deficiency. 1 Publication
    Corresponds to variant rs149399432 [ dbSNP | Ensembl ].
    VAR_046515
    Natural varianti634 – 6341D → Y in HLCS deficiency; 12% activity. 1 Publication
    VAR_046516
    Natural varianti715 – 7151D → G in HLCS deficiency. 1 Publication
    VAR_046517

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005260955.2.
    XP_005261013.1. XM_005260956.2.
    XP_006724057.1. XM_006723994.1.
    XP_006724058.1. XM_006723995.1.
    XP_006724059.1. XM_006723996.1.
    UniGeneiHs.371350.
    Hs.732538.

    Genome annotation databases

    EnsembliENST00000336648; ENSP00000338387; ENSG00000159267.
    ENST00000399120; ENSP00000382071; ENSG00000159267.
    ENST00000448340; ENSP00000392923; ENSG00000159267.
    GeneIDi3141.
    KEGGihsa:3141.
    UCSCiuc002yvs.3. human.

    Polymorphism databases

    DMDMi1705499.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005260955.2.
    XP_005261013.1. XM_005260956.2.
    XP_006724057.1. XM_006723994.1.
    XP_006724058.1. XM_006723995.1.
    XP_006724059.1. XM_006723996.1.
    UniGenei Hs.371350.
    Hs.732538.

    3D structure databases

    ProteinModelPortali P50747.
    SMRi P50747. Positions 460-707.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109386. 7 interactions.
    IntActi P50747. 3 interactions.
    MINTi MINT-3018588.
    STRINGi 9606.ENSP00000338387.

    Chemistry

    ChEMBLi CHEMBL2062354.
    DrugBanki DB00121. Biotin.

    PTM databases

    PhosphoSitei P50747.

    Polymorphism databases

    DMDMi 1705499.

    Proteomic databases

    MaxQBi P50747.
    PaxDbi P50747.
    PRIDEi P50747.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336648 ; ENSP00000338387 ; ENSG00000159267 .
    ENST00000399120 ; ENSP00000382071 ; ENSG00000159267 .
    ENST00000448340 ; ENSP00000392923 ; ENSG00000159267 .
    GeneIDi 3141.
    KEGGi hsa:3141.
    UCSCi uc002yvs.3. human.

    Organism-specific databases

    CTDi 3141.
    GeneCardsi GC21M038123.
    HGNCi HGNC:4976. HLCS.
    HPAi HPA017379.
    MIMi 253270. phenotype.
    609018. gene.
    neXtProti NX_P50747.
    Orphaneti 79242. Holocarboxylase synthetase deficiency.
    PharmGKBi PA29310.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0340.
    HOGENOMi HOG000095254.
    HOVERGENi HBG004872.
    InParanoidi P50747.
    KOi K01942.
    OMAi NLQTKQL.
    OrthoDBi EOG7SV0TT.
    PhylomeDBi P50747.
    TreeFami TF105860.

    Enzyme and pathway databases

    Reactomei REACT_11153. Biotin transport and metabolism.

    Miscellaneous databases

    GenomeRNAii 3141.
    NextBioi 12456.
    PROi P50747.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P50747.
    Bgeei P50747.
    CleanExi HS_HLCS.
    Genevestigatori P50747.

    Family and domain databases

    InterProi IPR004408. Biotin_CoA_COase_ligase.
    IPR003142. BPL_C.
    IPR004143. BPL_LipA_LipB.
    [Graphical view ]
    PANTHERi PTHR12835. PTHR12835. 1 hit.
    Pfami PF02237. BPL_C. 1 hit.
    PF03099. BPL_LplA_LipB. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR00121. birA_ligase. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA."
      Suzuki Y., Aoki Y., Ishida Y., Chiba Y., Iwamatsu A., Kishino T., Niikawa N., Matsubara Y., Narisawa K.
      Nat. Genet. 8:122-128(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT HLCS DEFICIENCY PRO-237.
      Tissue: Liver.
    2. "Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21."
      Ohira M., Seki N., Nagase T., Suzuki E., Nomura N., Ohara O., Hattori M., Sakaki Y., Eki T., Murakami Y., Saito T., Ichikawa H., Ohki M.
      Genome Res. 7:47-58(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Bone marrow.
    3. "Genomic sequencing of 1.2-Mb region on human chromosome 21q22.2."
      Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Nakatoh E., Shintani A., Asakawa S., Shimizu N.
      Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HLCS DEFICIENCY ASP-42; PRO-237; GLU-333; SER-360; CYS-456; SER-470; TRP-508; GLY-547; MET-550; SER-581; THR-610 DEL AND TYR-634, CHARACTERIZATION OF VARIANTS HLCS DEFICIENCY ASP-42; SER-360; CYS-456; SER-470; GLY-547 AND TYR-634.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Thalamus and Tongue.
    6. "The DNA sequence of human chromosome 21."
      Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A.
      , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
      Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Placenta.
    9. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-92.
      Tissue: Brain.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-147, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients."
      Aoki Y., Suzuki Y., Sakamoto O., Li X., Takahashi K., Ohtake A., Sakuta R., Ohura T., Miyabayashi S., Narisawa K.
      Biochim. Biophys. Acta 1272:168-174(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLCS DEFICIENCY PRO-237.
    13. "Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency."
      Dupuis L., Leon-Del-Rio A., Leclerc D., Campeau E., Sweetman L., Saudubray J.-M., Herman G., Gibson K.M., Gravel R.A.
      Hum. Mol. Genet. 5:1011-1016(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY ARG-216; ASP-363; TRP-508; GLU-518; MET-550 AND ASN-571.
    14. "Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency."
      Aoki Y., Suzuki Y., Li X., Sakamoto O., Chikaoka H., Takita S., Narisawa K.
      Pediatr. Res. 42:849-854(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY PRO-237 AND MET-550.
    15. "Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency."
      Aoki Y., Li X., Sakamoto O., Hiratsuka M., Akaishi H., Xu L., Briones P., Suormala T., Baumgartner E.R., Suzuki Y., Narisawa K.
      Hum. Genet. 104:143-148(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY GLU-333; ILE-462; ASN-571; SER-581 AND THR-610 DEL.
    16. "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.
    17. "Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency."
      Morrone A., Malvagia S., Donati M.A., Funghini S., Ciani F., Pela I., Boneh A., Peters H., Pasquini E., Zammarchi E.
      Am. J. Med. Genet. 111:10-18(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY ARG-216; LYS-511; SER-581 AND ARG-582.
    18. "A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency."
      Tang N.L.S., Hui J., Yong C.K.K., Wong L.T.K., Applegarth D.A., Vallance H.D., Law L.K., Fung S.L.M., Mak T.W.L., Sung Y.M., Cheung K.L., Fok T.F.
      Clin. Biochem. 36:145-149(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY TRP-508; MET-550 AND ASN-634.
    19. "Mutations in the holocarboxylase synthetase gene HLCS."
      Suzuki Y., Yang X., Aoki Y., Kure S., Matsubara Y.
      Hum. Mutat. 26:285-290(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLCS DEFICIENCY TYR-615 AND GLY-715.
    20. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-42.
    21. "Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency."
      Bailey L.M., Ivanov R.A., Jitrapakdee S., Wilson C.J., Wallace J.C., Polyak S.W.
      Hum. Mutat. 29:E47-E57(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANT HLCS DEFICIENCY ARG-216.

    Entry informationi

    Entry nameiBPL1_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 141 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Multifunctional enzyme, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3