Details for: BTD

Gene ID: 686

Symbol: BTD

Ensembl ID: ENSG00000169814

Description: biotinidase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 169.0184
    Cell Significance Index: -26.2900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 102.8610
    Cell Significance Index: -26.0900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 54.4237
    Cell Significance Index: -22.1100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 41.0568
    Cell Significance Index: -27.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 23.1685
    Cell Significance Index: -22.1200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.8662
    Cell Significance Index: -26.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.4219
    Cell Significance Index: -25.2400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.1069
    Cell Significance Index: -24.9000
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.8930
    Cell Significance Index: -27.2000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.9575
    Cell Significance Index: 35.2600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.9469
    Cell Significance Index: 46.6900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.8163
    Cell Significance Index: 111.6400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.7572
    Cell Significance Index: 110.7500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.6637
    Cell Significance Index: 20.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.3098
    Cell Significance Index: 190.4000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.1559
    Cell Significance Index: 134.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9147
    Cell Significance Index: 51.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8797
    Cell Significance Index: 315.5300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8166
    Cell Significance Index: 737.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7786
    Cell Significance Index: 16.8700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7398
    Cell Significance Index: 80.4700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6994
    Cell Significance Index: 20.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6491
    Cell Significance Index: 24.5800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.6391
    Cell Significance Index: 8.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6210
    Cell Significance Index: 27.4700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5609
    Cell Significance Index: 29.1400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5370
    Cell Significance Index: 41.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4927
    Cell Significance Index: 48.7400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4564
    Cell Significance Index: 90.5700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4547
    Cell Significance Index: 73.9500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4316
    Cell Significance Index: 86.5800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.4101
    Cell Significance Index: 756.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4052
    Cell Significance Index: 18.8900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3548
    Cell Significance Index: 8.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3505
    Cell Significance Index: 539.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3144
    Cell Significance Index: 40.3000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2875
    Cell Significance Index: 13.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2578
    Cell Significance Index: 46.4800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2316
    Cell Significance Index: 6.2100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2156
    Cell Significance Index: 405.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1969
    Cell Significance Index: 267.6700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1812
    Cell Significance Index: 22.2900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1698
    Cell Significance Index: 11.7400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1552
    Cell Significance Index: 107.3400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1506
    Cell Significance Index: 28.6600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1293
    Cell Significance Index: 82.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1116
    Cell Significance Index: 60.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0612
    Cell Significance Index: 2.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0443
    Cell Significance Index: 6.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0398
    Cell Significance Index: 18.0800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0328
    Cell Significance Index: 1.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0225
    Cell Significance Index: 1.1400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0145
    Cell Significance Index: 2.4700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0038
    Cell Significance Index: 1.6800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0024
    Cell Significance Index: 0.1800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0202
    Cell Significance Index: -14.9900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0205
    Cell Significance Index: -15.0400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0217
    Cell Significance Index: -0.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0236
    Cell Significance Index: -17.9000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0413
    Cell Significance Index: -23.2900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0494
    Cell Significance Index: -30.8500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0583
    Cell Significance Index: -5.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0737
    Cell Significance Index: -21.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0890
    Cell Significance Index: -4.1900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0906
    Cell Significance Index: -11.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1370
    Cell Significance Index: -28.8500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1385
    Cell Significance Index: -3.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1471
    Cell Significance Index: -4.7100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1556
    Cell Significance Index: -8.1700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1641
    Cell Significance Index: -17.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1824
    Cell Significance Index: -20.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1881
    Cell Significance Index: -22.1800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2129
    Cell Significance Index: -15.0600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2326
    Cell Significance Index: -5.9800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2522
    Cell Significance Index: -16.9600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2722
    Cell Significance Index: -17.5600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2999
    Cell Significance Index: -23.7500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3230
    Cell Significance Index: -19.8100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3507
    Cell Significance Index: -9.5500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3768
    Cell Significance Index: -8.0300
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.3802
    Cell Significance Index: -3.1000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.4715
    Cell Significance Index: -5.8800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.4931
    Cell Significance Index: -8.4500
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.5356
    Cell Significance Index: -6.7600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5464
    Cell Significance Index: -7.8300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.5663
    Cell Significance Index: -18.5400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5739
    Cell Significance Index: -15.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.5853
    Cell Significance Index: -20.3400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5970
    Cell Significance Index: -12.6700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6069
    Cell Significance Index: -19.3300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.6204
    Cell Significance Index: -18.2200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.6222
    Cell Significance Index: -5.7300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6277
    Cell Significance Index: -16.5100
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6290
    Cell Significance Index: -23.0900
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.6293
    Cell Significance Index: -8.8200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6475
    Cell Significance Index: -13.8400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6494
    Cell Significance Index: -12.8400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6551
    Cell Significance Index: -18.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6597
    Cell Significance Index: -11.0400
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.6615
    Cell Significance Index: -8.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** Biotinidase is a metalloprotease enzyme that specifically hydrolyzes biotinylated proteins, releasing free biotin. This enzyme is crucial for the recycling of biotin, allowing for its efficient utilization in various cellular processes, including energy metabolism, nucleic acid synthesis, and protein modification. Biotinidase is primarily expressed in the anterior lens cells, lens epithelial cells, and astrocytes of the cerebral cortex, highlighting its importance in maintaining lens clarity and neuronal function. **Pathways and Functions:** Biotinidase is involved in the biotin metabolic process, specifically in the hydrolysis of biotinylated proteins. This process is essential for the recycling of biotin, allowing for its efficient utilization in various cellular processes, including: 1. **Energy metabolism:** Biotin is required for the synthesis of acetyl-CoA, a key molecule in energy metabolism. 2. **Nucleic acid synthesis:** Biotin is necessary for the synthesis of nucleotides, which are essential for DNA and RNA synthesis. 3. **Protein modification:** Biotin is required for the synthesis of biotinylated proteins, which play a crucial role in protein modification and function. **Clinical Significance:** Biotinidase deficiency, caused by mutations in the BTD gene, leads to impaired biotin metabolism and its downstream effects. This condition can result in a range of clinical manifestations, including: 1. **Neurological symptoms:** Biotinidase deficiency has been associated with neurological symptoms, such as seizures, developmental delays, and cognitive impairment. 2. **Ocular abnormalities:** Affected individuals may experience lens opacities, cataracts, and glaucoma. 3. **Metabolic abnormalities:** Biotinidase deficiency can lead to metabolic abnormalities, including fatty acid oxidation defects and impaired glucose metabolism. In conclusion, biotinidase plays a crucial role in maintaining biotin metabolism and its downstream effects. Defects in biotinidase, resulting from mutations in the BTD gene, can lead to biotinidase deficiency, a condition characterized by impaired biotin metabolism and its clinical manifestations. Further research is necessary to elucidate the mechanisms underlying biotinidase deficiency and to develop effective treatments for this condition.

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 Ensembl 7 ExpressionAtlas 1 GO 7 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRO 1 PROSITE 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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.