Details for: BTD

Gene ID: 686

Symbol: BTD

Ensembl ID: ENSG00000169814

Description: biotinidase

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: anterior lens cell (CL0002223)
    Fold Change: 3.06
    Marker Score: 4111
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.71
    Marker Score: 3277
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.08
    Marker Score: 1215
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.61
    Marker Score: 6740
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.59
    Marker Score: 58593
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.54
    Marker Score: 6393
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.45
    Marker Score: 28748
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.4
    Marker Score: 20935
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.39
    Marker Score: 52794
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.32
    Marker Score: 28222
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.32
    Marker Score: 417
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.29
    Marker Score: 12297
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.28
    Marker Score: 4959
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.27
    Marker Score: 10927
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.26
    Marker Score: 77468
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.18
    Marker Score: 11066
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.16
    Marker Score: 338
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.14
    Marker Score: 2690
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.14
    Marker Score: 1758
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.1
    Marker Score: 8444
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.01
    Marker Score: 1117
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1
    Marker Score: 314
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71742
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47966
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.98
    Marker Score: 292.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.98
    Marker Score: 2338
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 483
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.93
    Marker Score: 345
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2710
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.9
    Marker Score: 1110
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.87
    Marker Score: 1919
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4918
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 307
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.83
    Marker Score: 1754.5
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.8
    Marker Score: 1510
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.79
    Marker Score: 251
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.78
    Marker Score: 1362
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.76
    Marker Score: 260
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.76
    Marker Score: 11821
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 302.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 574
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.74
    Marker Score: 639
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.73
    Marker Score: 1080
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.73
    Marker Score: 2090
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.73
    Marker Score: 2973
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.71
    Marker Score: 229
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.69
    Marker Score: 182
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2874
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.68
    Marker Score: 1551
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.68
    Marker Score: 3247
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 615
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 172
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.67
    Marker Score: 269
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.66
    Marker Score: 2611
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.62
    Marker Score: 178
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.62
    Marker Score: 258
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.61
    Marker Score: 2152
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.59
    Marker Score: 346
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.59
    Marker Score: 346
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.59
    Marker Score: 616
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.59
    Marker Score: 205.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.56
    Marker Score: 273
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.56
    Marker Score: 266
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.55
    Marker Score: 580
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.55
    Marker Score: 330
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.54
    Marker Score: 302
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.54
    Marker Score: 124
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 0.54
    Marker Score: 130
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.53
    Marker Score: 2307
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.53
    Marker Score: 296
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.53
    Marker Score: 149
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.52
    Marker Score: 3351
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.52
    Marker Score: 210
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.52
    Marker Score: 1306
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.51
    Marker Score: 430
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.51
    Marker Score: 338
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5
    Marker Score: 125
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.5
    Marker Score: 188
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.5
    Marker Score: 460
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.5
    Marker Score: 185
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.5
    Marker Score: 1127
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.49
    Marker Score: 785
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.49
    Marker Score: 313
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.49
    Marker Score: 291
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.48
    Marker Score: 2903
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.47
    Marker Score: 726
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.47
    Marker Score: 3068
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.47
    Marker Score: 420
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.47
    Marker Score: 319
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.47
    Marker Score: 603
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.47
    Marker Score: 2978
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.47
    Marker Score: 250
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.46
    Marker Score: 734

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

## Summary Biotinidase is an enzyme that catalyzes the transfer of a biotin group from one molecule to another. It is involved in the metabolism of biotin, a coenzyme that is essential for the synthesis of DNA, RNA, and proteins. BTD is also involved in the transport of biotin between cells. ## Key characteristics - BTD is a protein of the serine/threonine family. - It is expressed in a variety of cell types, including the anterior lens cell, lens epithelial cell, secondary lens fiber, pigmented epithelial cell, pvalb GABAergic cortical interneuron, chandelier pvalb GABAergic cortical interneuron, sst GABAergic cortical interneuron, lamp5 GABAergic cortical interneuron, and astrocyte of the cerebral cortex. - BTD is a highly active enzyme, with a reported half-life of approximately 1 hour. ## Pathways and functions - BTD is involved in the biotin metabolic process, including the synthesis of DNA, RNA, and proteins. - It is also involved in the transport of biotin between cells. - BTD is a key regulator of biotin metabolism, and its activity is increased in diseases that are characterized by a deficiency of biotin. ## Clinical significance - BTD is a genetic disorder that is caused by mutations in the BTD gene. - Mutations in the BTD gene can lead to a deficiency of biotin, which can result in a variety of clinical symptoms, including developmental delays, intellectual disability, and seizures. - BTD is currently not a clinically actionable disorder, but research is ongoing to develop new therapies that could correct the genetic defect.

Genular Protein ID: 1391392459

Symbol: BTD_HUMAN

Name: N/A

UniProtKB Accession Codes:

P43251 A6NHF2 B2R865 B4DFX1 B4DLJ9 B7Z7C9 F8W1Q3 Q96EM9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 3 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 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 4 Pumba 1 RNAct 1 Reactome 2 RefSeq 7 Rhea 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7509806

Title: Human serum biotinidase. cDNA cloning, sequence, and characterization.

PubMed ID: 7509806

DOI: 10.1016/s0021-9258(17)37409-4

PubMed ID: 9530634

Title: Structure of the human biotinidase gene.

PubMed ID: 9530634

DOI: 10.1007/s003359900760

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 9099842

Title: Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children.

PubMed ID: 9099842

DOI: 10.1007/s004390050397

PubMed ID: 9654207

Title: Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

PubMed ID: 9654207

DOI: 10.1007/s004390050742

PubMed ID: 10206677

Title: Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

PubMed ID: 10206677

DOI: 10.1002/(sici)1098-1004(1998)11:5<410::aid-humu10>3.0.co;2-8

Sequence Information:

  • Length: 543
  • Mass: 61133
  • Checksum: 1A999893A0784944
  • Sequence:
    • MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA 
AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF 
TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH 
SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF 
GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN 
VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK 
FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN 
GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG 
IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY 
ERD

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.