Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3141
Gene name Gene Name - the full gene name approved by the HGNC.
Holocarboxylase synthetase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HLCS
Synonyms (NCBI Gene) Gene synonyms aliases
HCS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HCS
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of hol
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28934602 A>C Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs119103227 A>C,G Uncertain-significance, likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs119103228 C>T Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs119103229 G>A Pathogenic Non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant, missense variant
rs119103230 C>T Pathogenic Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT718184 hsa-miR-3620-3p HITS-CLIP 19536157
MIRT718185 hsa-miR-6752-3p HITS-CLIP 19536157
MIRT718183 hsa-miR-6832-3p HITS-CLIP 19536157
MIRT718182 hsa-miR-6747-3p HITS-CLIP 19536157
MIRT718181 hsa-miR-4287 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 14613969
GO:0004077 Function Biotin-[acetyl-CoA-carboxylase] ligase activity IBA 21873635
GO:0004078 Function Biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity IEA
GO:0004079 Function Biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity IEA
GO:0004080 Function Biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity IDA 7842009
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609018 4976 ENSG00000159267
Protein
UniProt ID P50747
Protein name Biotin--protein ligase (EC 6.3.4.-) (Biotin apo-protein ligase) [Includes: Biotin--[methylmalonyl-CoA-carboxytransferase] ligase (EC 6.3.4.9); Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase (EC 6.3.4.10) (Holocarboxylase synthetase) (HCS); B
Protein function Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase. {ECO:0000269|PubMed:10590022, ECO:0000269|Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09825 BPL_N 271 477 Biotin-protein ligase, N terminal Family
PF03099 BPL_LplA_LipB 471 603 Biotin/lipoate A/B protein ligase family Domain
PF02237 BPL_C 669 718 Biotin protein ligase C terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:7753853, PubMed:7842009). Mostly expressed in muscle, placenta and to a lower extent in the brain, kidney, pancreas, liver and lung (PubMed:7842009). {ECO:0000269|PubMed:7753853, ECO:0000269|PubMed:7842009}.
Sequence
MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEH
VGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESV
KFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFH
EVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQG
GKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSP
GRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRR
YEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSL
RFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVIL
FAEVTPTTMR
LLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPF
VQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGC
GFN
VTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVL
PLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNL
ILPKRR
Sequence length 726
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Biotin metabolism
Metabolic pathways
  Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Holocarboxylase synthetase deficiency Holocarboxylase Synthetase Deficiency, Holocarboxylase synthetase deficiency rs119103227, rs119103229, rs119103230, rs119103231, rs753887925, rs773102942, rs28934602, rs146448211, rs771944310, rs1555957134, rs1057516035, rs767533946, rs144572349, rs1064796014, rs772791252
View all (17 more)
24085707, 18974016, 21894551, 24239178, 27604308, 11735028, 25690727, 9396568, 24215330, 16134170, 25525159, 20026029, 18429047, 22027809, 12633764
View all (19 more)
Intracranial aneurysm Intracranial Aneurysm rs1594095223 29531279
Unknown
Disease term Disease name Evidence References Source
Intracranial Aneurysm Intracranial Aneurysm GWAS
Sarcoidosis Sarcoidosis GWAS
Eosinophilia Eosinophilia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Allergic Fungal Sinusitis Associate 29253858
Biotin deficiency Associate 15623830
Biotinidase Deficiency Associate 3920902, 7102675
Borderline Personality Disorder Associate 24367640
Breast Neoplasms Associate 21303649
Down Syndrome Associate 21249119, 9037601
Embryo Loss Associate 22027809
Holocarboxylase Synthetase Deficiency Associate 18974016, 39194177
Holocarboxylase Synthetase Deficiency Inhibit 21195703, 7753853
Multiple Carboxylase Deficiency Associate 11959985, 6794361