Details for: TUFT1

Gene ID: 7286

Symbol: TUFT1

Ensembl ID: ENSG00000143367

Description: tuftelin 1

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: 80.7482
    Cell Significance Index: -12.5600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 49.4395
    Cell Significance Index: -12.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 25.1319
    Cell Significance Index: -10.2100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.6940
    Cell Significance Index: -10.2100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.2112
    Cell Significance Index: -12.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.5915
    Cell Significance Index: -12.3000
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 3.7525
    Cell Significance Index: 8.4600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 3.4518
    Cell Significance Index: 56.8800
  • Cell Name: epithelial cell of sweat gland (CL1000448)
    Fold Change: 3.4282
    Cell Significance Index: 2.4500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.1956
    Cell Significance Index: -12.6100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.7049
    Cell Significance Index: -5.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.6231
    Cell Significance Index: 136.2600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.5784
    Cell Significance Index: 74.2900
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.4784
    Cell Significance Index: 35.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.2060
    Cell Significance Index: 99.9900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.1229
    Cell Significance Index: 31.8100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.8205
    Cell Significance Index: 48.6100
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 1.6308
    Cell Significance Index: 2.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.3494
    Cell Significance Index: 157.2600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0718
    Cell Significance Index: 967.7600
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.0342
    Cell Significance Index: 3.9600
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.9516
    Cell Significance Index: 2.8300
  • Cell Name: epithelial cell of lacrimal sac (CL1000436)
    Fold Change: 0.8588
    Cell Significance Index: 6.1800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7711
    Cell Significance Index: 83.8700
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.7339
    Cell Significance Index: 6.0700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7073
    Cell Significance Index: 115.0400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.6555
    Cell Significance Index: 13.9600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.6297
    Cell Significance Index: 3.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6289
    Cell Significance Index: 62.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5739
    Cell Significance Index: 15.6200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.5649
    Cell Significance Index: 19.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5395
    Cell Significance Index: 107.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.5067
    Cell Significance Index: 14.1600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4250
    Cell Significance Index: 29.3900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3972
    Cell Significance Index: 29.6000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3685
    Cell Significance Index: 3.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3510
    Cell Significance Index: 9.4100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3206
    Cell Significance Index: 41.4300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3060
    Cell Significance Index: 14.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2726
    Cell Significance Index: 49.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2543
    Cell Significance Index: 112.4200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1848
    Cell Significance Index: 35.1600
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1746
    Cell Significance Index: 2.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1744
    Cell Significance Index: 21.4400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1670
    Cell Significance Index: 19.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1475
    Cell Significance Index: 29.5900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1323
    Cell Significance Index: 72.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1308
    Cell Significance Index: 6.1000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1293
    Cell Significance Index: 46.3900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1273
    Cell Significance Index: 1.1700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1196
    Cell Significance Index: 20.4300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1137
    Cell Significance Index: 2.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0764
    Cell Significance Index: 52.8300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0485
    Cell Significance Index: 0.6800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0446
    Cell Significance Index: 5.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0278
    Cell Significance Index: 0.8900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0262
    Cell Significance Index: 48.3400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0162
    Cell Significance Index: 2.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0138
    Cell Significance Index: 1.9000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0130
    Cell Significance Index: 24.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0116
    Cell Significance Index: 0.8200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0047
    Cell Significance Index: 3.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0013
    Cell Significance Index: 1.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0013
    Cell Significance Index: -1.7600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0016
    Cell Significance Index: -1.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0029
    Cell Significance Index: -1.8100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0089
    Cell Significance Index: -5.6400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0121
    Cell Significance Index: -9.1300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0127
    Cell Significance Index: -5.7800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0136
    Cell Significance Index: -7.6500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0183
    Cell Significance Index: -0.2500
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0225
    Cell Significance Index: -0.2900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0227
    Cell Significance Index: -0.2400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0266
    Cell Significance Index: -5.6100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0339
    Cell Significance Index: -9.7400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0374
    Cell Significance Index: -0.8100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0382
    Cell Significance Index: -3.9000
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0425
    Cell Significance Index: -0.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0448
    Cell Significance Index: -1.1200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0491
    Cell Significance Index: -5.6200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0586
    Cell Significance Index: -4.5000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0728
    Cell Significance Index: -3.6800
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0771
    Cell Significance Index: -1.0700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0789
    Cell Significance Index: -4.4300
  • Cell Name: serous secreting cell of bronchus submucosal gland (CL4033005)
    Fold Change: -0.0859
    Cell Significance Index: -0.8600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0877
    Cell Significance Index: -4.5700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0955
    Cell Significance Index: -5.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0962
    Cell Significance Index: -11.3400
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.0964
    Cell Significance Index: -1.0500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1101
    Cell Significance Index: -11.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1228
    Cell Significance Index: -8.2600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1256
    Cell Significance Index: -9.9500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1426
    Cell Significance Index: -8.7500
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.1495
    Cell Significance Index: -1.4200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1528
    Cell Significance Index: -4.3800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1534
    Cell Significance Index: -3.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1600
    Cell Significance Index: -8.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1748
    Cell Significance Index: -11.2800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1875
    Cell Significance Index: -3.8900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1975
    Cell Significance Index: -7.2500

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:** 1. **Expression Pattern:** Tuftelin 1 is expressed in a diverse range of cell types, including corneal epithelial cells, glandular epithelial cells, squamous epithelial cells, bladder urothelial cells, cortical thymic epithelial cells, conjunctival epithelial cells, kidney proximal straight tubule epithelial cells, and cerebral cortex GABAergic interneurons. 2. **Protein Structure:** The structure of Tuftelin 1 is characterized by a unique combination of protein domains, including the cytoplasmic, extracellular, and intracellular regions, which facilitate its interactions with various cellular components. 3. **Signaling Pathways:** Tuftelin 1 is involved in multiple signaling pathways, including those involved in bone mineralization, odontogenesis, and intracellular signal transduction. 4. **Functional Interactions:** Tuftelin 1 interacts with a range of proteins, including those involved in cell adhesion, migration, and differentiation, highlighting its role in regulating cellular behavior. **Pathways and Functions:** 1. **Bone Mineralization:** Tuftelin 1 has been implicated in the regulation of bone mineralization, a process critical for maintaining bone health and density. 2. **Odontogenesis:** This protein is also involved in the development of teeth, a process that requires precise regulation of cellular behavior and tissue organization. 3. **Intracellular Signal Transduction:** Tuftelin 1 participates in various signaling pathways, including those involved in cell proliferation, differentiation, and survival. 4. **Epithelial Cell Function:** Tuftelin 1 plays a crucial role in maintaining epithelial cell integrity, function, and homeostasis, particularly in tissues such as the skin and bladder. 5. **Neurological Function:** The protein's expression in neurons and GABAergic interneurons highlights its potential role in regulating neural function and behavior. **Clinical Significance:** 1. **Bone Disorders:** Alterations in Tuftelin 1 expression or function may contribute to bone-related disorders, such as osteoporosis or rickets. 2. **Neurological Disorders:** Dysregulation of Tuftelin 1 in neurons may be implicated in various neurological conditions, including neurodegenerative diseases or disorders of neural development. 3. **Cancer:** The protein's role in cell proliferation, differentiation, and survival may contribute to cancer development and progression. 4. **Skin and Bladder Disorders:** Abnormalities in Tuftelin 1 expression or function may be associated with skin or bladder disorders, such as epidermolysis bullosa or bladder cancer. In conclusion, Tuftelin 1 is a multifunctional protein with a complex role in regulating various cellular processes. Further research is necessary to elucidate its mechanisms of action, clinical significance, and potential applications in disease prevention and treatment.

Genular Protein ID: 326326170

Symbol: TUFT1_HUMAN

Name: Tuftelin

UniProtKB Accession Codes:

Q9NNX1 B2RD57 D3DV21 D3DV22 Q5T384 Q5T385 Q9BU28 Q9H5L1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 22 Ensembl 2 ExpressionAtlas 1 GO 7 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 4 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11733143

Title: The human tuftelin gene: cloning and characterization.

PubMed ID: 11733143

DOI: 10.1016/s0378-1119(01)00749-1

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 7919663

Title: Mapping of the human tuftelin (TUFT1) gene to chromosome 1 by fluorescence in situ hybridization.

PubMed ID: 7919663

DOI: 10.1007/bf00357011

PubMed ID: 1874744

Title: Sequencing of bovine enamelin ('tuftelin') a novel acidic enamel protein.

PubMed ID: 1874744

DOI: 10.1016/s0021-9258(18)98510-8

PubMed ID: 36689522

Title: Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

PubMed ID: 36689522

DOI: 10.1093/bjd/ljac026

Sequence Information:

  • Length: 390
  • Mass: 44264
  • Checksum: 332AF3C06665E8D0
  • Sequence:
    • MNGTRNWCTL VDVHPEDQAA GSVDILRLTL QGELTGDELE HIAQKAGRKT YAMVSSHSAG 
HSLASELVES HDGHEEIIKV YLKGRSGDKM IHEKNINQLK SEVQYIQEAR NCLQKLREDI 
SSKLDRNLGD SLHRQEIQVV LEKPNGFSQS PTALYSSPPE VDTCINEDVE SLRKTVQDLL 
AKLQEAKRQH QSDCVAFEVT LSRYQREAEQ SNVALQREED RVEQKEAEVG ELQRRLLGME 
TEHQALLAKV REGEVALEEL RSNNADCQAE REKAATLEKE VAGLREKIHH LDDMLKSQQR 
KVRQMIEQLQ NSKAVIQSKD ATIQELKEKI AYLEAENLEM HDRMEHLIEK QISHGNFSTQ 
ARAKTENPGS IRISKPPSPK PMPVIRVVET

Genular Protein ID: 3630408209

Symbol: B7Z4Y1_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7Z4Y1

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 InterPro 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 RefSeq 1 SAM 2

Sequence Information:

  • Length: 409
  • Mass: 46456
  • Checksum: FF358DF749EB9439
  • Sequence:
    • MSSPGMTSLQ LEKEECMQCV PCSPRTRVAL LELYRAMCQG SVDILRLTLQ GELTGDELEH 
IAQKAGRKTY AMVSSHSAGH SLASELVESH DGHEEIIKVY LKGRSGDRMI HEKNINQLKS 
EVQYIQEARN CLQKLREDIS SKLDRNLGDS LHRQEIQVVL EKPNGFSQSP TALYSSPPEV 
DTCINEDVES LRKTVQDLLA KLQEAKRQHQ SDCVAFEVTL SRYQREAEQS NVALQREEDR 
VEQKEAEVGE LQRRLLGMET EHQALLAKVR EGEVALEELR SNNADCQAER EKAATLEKEV 
AGLREKIHHL DDMLKSQQRK VRQMIEQLQN SKAVIQSKDA TIQELKEKIA YLEAENLEMH 
DRMEHLIEKQ ISHGNFSTQA RAKTENPGSI RISKPPSPKP MPVIRVVET

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.