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P50747

- BPL1_HUMAN

UniProt

P50747 - BPL1_HUMAN

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Protein

Biotin--protein ligase

Gene

HLCS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

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
Complete GO annotation...

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-KW
  5. nuclear lamina Source: UniProtKB
  6. nuclear matrix Source: UniProtKB
Complete GO annotation...

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

BgeeiP50747.
CleanExiHS_HLCS.
ExpressionAtlasiP50747. baseline and differential.
GenevestigatoriP50747.

Organism-specific databases

HPAiHPA017379.

Interactioni

Subunit structurei

Monomer.

Binary interactionsi

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

Protein-protein interaction databases

BioGridi109386. 8 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.
GeneTreeiENSGT00390000002960.
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

        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

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.
ENST00000612277; ENSP00000479939; 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. 8 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 .
ENST00000612277 ; ENSP00000479939 ; 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.
GeneTreei ENSGT00390000002960.
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

Bgeei P50747.
CleanExi HS_HLCS.
ExpressionAtlasi P50747. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 142 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