Details for: HLCS

Gene ID: 3141

Symbol: HLCS

Ensembl ID: ENSG00000159267

Description: holocarboxylase synthetase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.65
    Marker Score: 1548
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.31
    Marker Score: 2795
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.2
    Marker Score: 83423
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.18
    Marker Score: 32647
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.17
    Marker Score: 8983
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.11
    Marker Score: 6009
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.08
    Marker Score: 15917
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.04
    Marker Score: 40569.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.03
    Marker Score: 74796
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.97
    Marker Score: 18556
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.94
    Marker Score: 3258
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.92
    Marker Score: 2587.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.92
    Marker Score: 7434
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.92
    Marker Score: 805
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.88
    Marker Score: 19411
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.86
    Marker Score: 2053.5
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.84
    Marker Score: 7478
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.79
    Marker Score: 17015
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.75
    Marker Score: 1347
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.74
    Marker Score: 107185
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.68
    Marker Score: 14445
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.67
    Marker Score: 56450
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.66
    Marker Score: 35346
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.64
    Marker Score: 1138
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.58
    Marker Score: 463
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.58
    Marker Score: 834
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.56
    Marker Score: 2410
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.56
    Marker Score: 6522
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.48
    Marker Score: 1681
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.48
    Marker Score: 405
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168409
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.46
    Marker Score: 817
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.46
    Marker Score: 25925
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.41
    Marker Score: 1759
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.41
    Marker Score: 1251
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.34
    Marker Score: 6182
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.3
    Marker Score: 1126
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.3
    Marker Score: 1068
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.3
    Marker Score: 2501
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.28
    Marker Score: 2603
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.25
    Marker Score: 2938
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.25
    Marker Score: 390
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.23
    Marker Score: 732
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.21
    Marker Score: 5056.5
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.21
    Marker Score: 442
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.17
    Marker Score: 1265
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.17
    Marker Score: 338
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.17
    Marker Score: 399
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.17
    Marker Score: 2800
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.17
    Marker Score: 1345
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.17
    Marker Score: 18269
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.13
    Marker Score: 2833
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.13
    Marker Score: 18093
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.12
    Marker Score: 1948
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.1
    Marker Score: 7066
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.09
    Marker Score: 3571
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.09
    Marker Score: 3867
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.07
    Marker Score: 4624
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.07
    Marker Score: 338
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.04
    Marker Score: 275
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.03
    Marker Score: 572
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1
    Marker Score: 1239
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71767
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47991
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.98
    Marker Score: 938
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 494
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 448
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2407
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.95
    Marker Score: 569
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.95
    Marker Score: 5081
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.94
    Marker Score: 342
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.93
    Marker Score: 506
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.91
    Marker Score: 20342.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2724
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.91
    Marker Score: 292
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.9
    Marker Score: 284
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5022
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.88
    Marker Score: 325
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.87
    Marker Score: 274
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.86
    Marker Score: 5196
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.86
    Marker Score: 447
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.85
    Marker Score: 739
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.85
    Marker Score: 1205
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.84
    Marker Score: 1362
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.82
    Marker Score: 209
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.82
    Marker Score: 537
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.81
    Marker Score: 622
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.81
    Marker Score: 209
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.8
    Marker Score: 388
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.79
    Marker Score: 305
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.79
    Marker Score: 160
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 316
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.78
    Marker Score: 584
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.77
    Marker Score: 287
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3181
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.75
    Marker Score: 357
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.75
    Marker Score: 371

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Other Information

**Key characteristics:** * The HLCS gene encodes a protein that catalyzes the formation of a coenzyme that is essential for the metabolism of biotin. * Defects in the HLCS gene can lead to multiple carboxylase deficiency, which is characterized by a lack of biotin and its derivatives. * These deficiencies can cause a variety of neurological and psychiatric symptoms. **Pathways and functions:** * The HLCS gene is involved in several metabolic pathways that involve biotin, including the synthesis of carnitine from acetyl-CoA, the synthesis of methylmalonyl-CoA from oxaloacetate, and the synthesis of propionyl-CoA from pyruvate. * These pathways are involved in energy production, metabolism of fats and proteins, and the production of neurotransmitters. **Clinical significance:** * Mutations in the HLCS gene have been linked to several neurological and psychiatric disorders, including autism, schizophrenia, and epilepsy. * These disorders are characterized by abnormalities in cognition, behavior, and brain function. * Understanding the role of HLCS in biotin metabolism has potential implications for the development of new treatments for these diseases. **Additional notes:** * The HLCS gene is also involved in the regulation of calcium and phosphate metabolism. * Mutations in the HLCS gene can also lead to a condition called biotinylation, which is characterized by the addition of a biotin group to proteins. * Biotinylation can disrupt protein-protein interactions and lead to the aggregation of misfolded proteins.

Genular Protein ID: 4279228024

Symbol: BPL1_HUMAN

Name: Biotin--protein ligase

UniProtKB Accession Codes:

P50747 B2RAH1 D3DSG6 Q99451

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 28 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 4 EMBL 15 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 18 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 11 Rhea 16 SABIO-RK 1 SAM 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7842009

Title: Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA.

PubMed ID: 7842009

DOI: 10.1038/ng1094-122

PubMed ID: 9037601

Title: Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21.

PubMed ID: 9037601

DOI: 10.1101/gr.7.1.47

PubMed ID: 11735028

Title: Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.

PubMed ID: 11735028

DOI: 10.1007/s004390100603

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9503011

Title: Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.

PubMed ID: 9503011

DOI: 10.1006/geno.1997.5146

PubMed ID: 7753853

Title: Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

PubMed ID: 7753853

DOI: 10.1073/pnas.92.10.4626

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 8541348

Title: Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

PubMed ID: 8541348

DOI: 10.1016/0925-4439(95)00082-8

PubMed ID: 8817339

Title: Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

PubMed ID: 8817339

DOI: 10.1093/hmg/5.7.1011

PubMed ID: 9396568

Title: Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

PubMed ID: 9396568

DOI: 10.1203/00006450-199712000-00021

PubMed ID: 10190325

Title: Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

PubMed ID: 10190325

DOI: 10.1007/s004390050927

PubMed ID: 10590022

Title: Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency.

PubMed ID: 10590022

DOI: 10.1203/00006450-199912000-00004

PubMed ID: 12124727

Title: Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

PubMed ID: 12124727

DOI: 10.1002/ajmg.10532

PubMed ID: 12633764

Title: A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency.

PubMed ID: 12633764

DOI: 10.1016/s0009-9120(02)00432-0

PubMed ID: 16134170

Title: Mutations in the holocarboxylase synthetase gene HLCS.

PubMed ID: 16134170

DOI: 10.1002/humu.20204

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 18429047

Title: Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency.

PubMed ID: 18429047

DOI: 10.1002/humu.20766

PubMed ID: 20095979

Title: Holocarboxylase synthetase deficiency: novel clinical and molecular findings.

PubMed ID: 20095979

DOI: 10.1111/j.1399-0004.2009.01357.x

PubMed ID: 25690727

Title: Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

PubMed ID: 25690727

DOI: 10.1007/8904_2014_367

Sequence Information:

  • Length: 726
  • Mass: 80760
  • Checksum: 855B8E52106D675F
  • Sequence:
    • MEDRLHMDNG LVPQKIVSVH LQDSTLKEVK DQVSNKQAQI LEPKPEPSLE IKPEQDGMEH 
VGRDDPKALG EEPKQRRGSA SGSEPAGDSD RGGGPVEHYH LHLSSCHECL ELENSTIESV 
KFASAENIPD LPYDYSSSLE SVADETSPER EGRRVNLTGK APNILLYVGS DSQEALGRFH 
EVRSVLADCV DIDSYILYHL LEDSALRDPW TDNCLLLVIA TRESIPEDLY QKFMAYLSQG 
GKVLGLSSSF TFGGFQVTSK GALHKTVQNL VFSKADQSEV KLSVLSSGCR YQEGPVRLSP 
GRLQGHLENE DKDRMIVHVP FGTRGGEAVL CQVHLELPPS SNIVQTPEDF NLLKSSNFRR 
YEVLREILTT LGLSCDMKQV PALTPLYLLS AAEEIRDPLM QWLGKHVDSE GEIKSGQLSL 
RFVSSYVSEV EITPSCIPVV TNMEAFSSEH FNLEIYRQNL QTKQLGKVIL FAEVTPTTMR 
LLDGLMFQTP QEMGLIVIAA RQTEGKGRGG NVWLSPVGCA LSTLLISIPL RSQLGQRIPF 
VQHLMSVAVV EAVRSIPEYQ DINLRVKWPN DIYYSDLMKI GGVLVNSTLM GETFYILIGC 
GFNVTNSNPT ICINDLITEY NKQHKAELKP LRADYLIARV VTVLEKLIKE FQDKGPNSVL 
PLYYRYWVHS GQQVHLGSAE GPKVSIVGLD DSGFLQVHQE GGEVVTVHPD GNSFDMLRNL 
ILPKRR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.