Details for: TULP1

Gene ID: 7287

Symbol: TULP1

Ensembl ID: ENSG00000112041

Description: TUB like protein 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: eye photoreceptor cell (CL0000287)
    Fold Change: 10.8474
    Cell Significance Index: 683.6800
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 10.4542
    Cell Significance Index: 146.8300
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 2.0990
    Cell Significance Index: 18.4900
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 1.0826
    Cell Significance Index: 6.0700
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 1.0586
    Cell Significance Index: 13.2200
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.9366
    Cell Significance Index: 11.8500
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 0.5057
    Cell Significance Index: 6.1300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.4816
    Cell Significance Index: 7.6400
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.3524
    Cell Significance Index: 2.1800
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.2353
    Cell Significance Index: 1.8100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2077
    Cell Significance Index: 2.9800
  • Cell Name: diffuse bipolar 2 cell (CL4033028)
    Fold Change: 0.1791
    Cell Significance Index: 2.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1782
    Cell Significance Index: 3.7300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1778
    Cell Significance Index: 2.1200
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.1531
    Cell Significance Index: 1.7300
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.1300
    Cell Significance Index: 3.1500
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.1268
    Cell Significance Index: 1.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0623
    Cell Significance Index: 7.9900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0594
    Cell Significance Index: 0.4900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0182
    Cell Significance Index: 0.1400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0171
    Cell Significance Index: 0.9600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0131
    Cell Significance Index: 0.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0104
    Cell Significance Index: 19.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0076
    Cell Significance Index: 0.4000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0036
    Cell Significance Index: 0.6400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0027
    Cell Significance Index: 1.8700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0012
    Cell Significance Index: 0.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0003
    Cell Significance Index: -0.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0003
    Cell Significance Index: -0.4900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0006
    Cell Significance Index: -0.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0013
    Cell Significance Index: -0.8500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0015
    Cell Significance Index: -0.6800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0019
    Cell Significance Index: -0.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0029
    Cell Significance Index: -0.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0029
    Cell Significance Index: -1.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0030
    Cell Significance Index: -0.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0033
    Cell Significance Index: -2.4500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0033
    Cell Significance Index: -2.5100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0038
    Cell Significance Index: -2.0700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0040
    Cell Significance Index: -0.4900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0040
    Cell Significance Index: -2.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0054
    Cell Significance Index: -0.1400
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.0064
    Cell Significance Index: -0.0400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0071
    Cell Significance Index: -0.2000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0079
    Cell Significance Index: -1.3500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0090
    Cell Significance Index: -1.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0128
    Cell Significance Index: -1.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0131
    Cell Significance Index: -0.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0159
    Cell Significance Index: -0.7400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0182
    Cell Significance Index: -2.0900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0184
    Cell Significance Index: -2.3800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0204
    Cell Significance Index: -0.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0212
    Cell Significance Index: -0.7800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0215
    Cell Significance Index: -1.0900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0220
    Cell Significance Index: -0.6000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0224
    Cell Significance Index: -2.2900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0224
    Cell Significance Index: -2.3300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0230
    Cell Significance Index: -0.3300
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: -0.0266
    Cell Significance Index: -0.3100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0283
    Cell Significance Index: -1.7400
  • Cell Name: flat midget bipolar cell (CL4033033)
    Fold Change: -0.0290
    Cell Significance Index: -0.3600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.0293
    Cell Significance Index: -0.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0308
    Cell Significance Index: -2.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0312
    Cell Significance Index: -1.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0319
    Cell Significance Index: -2.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0327
    Cell Significance Index: -2.4400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0333
    Cell Significance Index: -0.9600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0337
    Cell Significance Index: -0.4600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0339
    Cell Significance Index: -0.4200
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0364
    Cell Significance Index: -0.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0372
    Cell Significance Index: -1.5200
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0380
    Cell Significance Index: -0.4200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0407
    Cell Significance Index: -1.7700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0409
    Cell Significance Index: -2.1300
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0431
    Cell Significance Index: -0.5200
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0431
    Cell Significance Index: -0.5900
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.0432
    Cell Significance Index: -0.8500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0453
    Cell Significance Index: -2.0100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0464
    Cell Significance Index: -1.6300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.0464
    Cell Significance Index: -0.6600
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0474
    Cell Significance Index: -0.6000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0484
    Cell Significance Index: -2.2000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0502
    Cell Significance Index: -0.8600
  • Cell Name: diffuse bipolar 3b cell (CL4033030)
    Fold Change: -0.0531
    Cell Significance Index: -0.6400
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0531
    Cell Significance Index: -0.5200
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: -0.0535
    Cell Significance Index: -0.6700
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: -0.0556
    Cell Significance Index: -0.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0576
    Cell Significance Index: -2.1800
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0577
    Cell Significance Index: -0.6300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0582
    Cell Significance Index: -2.0400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0602
    Cell Significance Index: -1.4700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0617
    Cell Significance Index: -1.2600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0618
    Cell Significance Index: -1.8200
  • Cell Name: S cone cell (CL0003050)
    Fold Change: -0.0618
    Cell Significance Index: -0.7200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0619
    Cell Significance Index: -2.1500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0630
    Cell Significance Index: -1.5700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0638
    Cell Significance Index: -2.0900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0641
    Cell Significance Index: -1.6000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0645
    Cell Significance Index: -1.8400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0656
    Cell Significance Index: -1.3600

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. **Actin filament binding**: TULP1 is a tubby-related protein that binds to actin filaments, which are essential for maintaining cell shape, motility, and intracellular transport. 2. **Photoreceptor cell development and maintenance**: TULP1 plays a critical role in the development and maintenance of photoreceptor cells in the retina, which are responsible for visual perception. 3. **Phagocytosis**: TULP1 is involved in the regulation of phagocytosis, a process by which cells engulf and digest foreign particles and cellular debris. 4. **Cellular localization**: TULP1 is localized to the cilium, a specialized structure found on certain cells, including photoreceptor cells and blood vessel endothelial cells. **Pathways and Functions** 1. **Visual perception**: TULP1 plays a critical role in visual perception by regulating the structure and function of photoreceptor cells in the retina. 2. **Cilia function**: TULP1 is involved in the regulation of cilia function, which is essential for maintaining cellular homeostasis and responding to environmental stimuli. 3. **Phagocytosis**: TULP1 regulates phagocytosis by interacting with other proteins involved in this process. 4. **Cell signaling**: TULP1 may also be involved in cell signaling pathways, including those involved in the regulation of cellular growth and differentiation. **Clinical Significance** 1. **Retinal disorders**: Mutations in the TULP1 gene have been associated with various retinal disorders, including retinitis pigmentosa and Leber congenital amaurosis. 2. **Visual impairment**: Dysregulation of TULP1 has been implicated in visual impairment and blindness, highlighting the importance of this gene in maintaining visual function. 3. **Neurodegenerative diseases**: TULP1 may also play a role in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, which involve the degeneration of photoreceptor cells and other neural tissues. In conclusion, TULP1 is a critical gene that plays a central role in visual perception and beyond. Its dysregulation has been implicated in various retinal disorders and visual impairment, highlighting the importance of this gene in maintaining visual function. Further research is needed to fully understand the mechanisms by which TULP1 regulates photoreceptor cell development, maintenance, and phagocytosis, and to explore its potential as a therapeutic target for retinal disorders.

Genular Protein ID: 2687787125

Symbol: TULP1_HUMAN

Name: Tubby-related protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9096357

Title: Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases.

PubMed ID: 9096357

DOI: 10.1073/pnas.94.7.3128

PubMed ID: 9462751

Title: TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

PubMed ID: 9462751

DOI: 10.1038/ng0298-177

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 16303976

Title: Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells.

PubMed ID: 16303976

DOI: 10.1167/iovs.05-0693

PubMed ID: 19837063

Title: Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.

PubMed ID: 19837063

DOI: 10.1016/j.yexcr.2009.10.008

PubMed ID: 9660588

Title: Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.

PubMed ID: 9660588

DOI: 10.1016/s0140-6736(05)79384-3

PubMed ID: 9462750

Title: Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

PubMed ID: 9462750

DOI: 10.1038/ng0298-174

PubMed ID: 15024725

Title: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

PubMed ID: 15024725

DOI: 10.1002/humu.20010

PubMed ID: 15557452

Title: A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

PubMed ID: 15557452

DOI: 10.1167/iovs.04-0544

PubMed ID: 17620573

Title: Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.

PubMed ID: 17620573

DOI: 10.1001/archopht.125.7.932

PubMed ID: 17962469

Title: Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration.

PubMed ID: 17962469

DOI: 10.1167/iovs.06-1013

Sequence Information:

  • Length: 542
  • Mass: 60609
  • Checksum: 65320103E2674B60
  • Sequence:
  • MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR 
    KPGAGRTGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE 
    EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR 
    VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG 
    TPKGARKEEE EEEEAATVIK KSNQKGKAKG KGKKKAKEER APSPPVEVDE PREFVLRPAP 
    QGRTVRCRLT RDKKGMDRGM YPSYFLHLDT EKKVFLLAGR KRKRSKTANY LISIDPTNLS 
    RGGENFIGKL RSNLLGNRFT VFDNGQNPQR GYSTNVASLR QELAAVIYET NVLGFRGPRR 
    MTVIIPGMSA ENERVPIRPR NASDGLLVRW QNKTLESLIE LHNKPPVWND DSGSYTLNFQ 
    GRVTQASVKN FQIVHADDPD YIVLQFGRVA EDAFTLDYRY PLCALQAFAI ALSSFDGKLA 
    CE

Genular Protein ID: 342579956

Symbol: F1T0I9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 21697133

Title: Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.

PubMed ID: 21697133

DOI: 10.1167/iovs.11-7479

Sequence Information:

  • Length: 441
  • Mass: 48934
  • Checksum: A38C3D5EE0481425
  • Sequence:
  • MPLRDETLRE VWASDSGHEE ESLSPEAPRR PKQRPAPAQR LRKKRTEAPE SPCPTGSKPR 
    KPGAGRRGRP REEPSPDPAQ ARAPQTVYAR FLRDPEAKKR DPRETFLVAR APDAEDEEEE 
    EEEDEEDEEE EAEEKKEKIL LPPKKPLREK SSADLKERRA KAQGPRGDLG SPDPPPKPLR 
    VRNKEAPAGE GTKMRKTKKK GSGEADKDPS GSPASARKSP AAMFLVGEGS PDKKALKKKG 
    TPKGARKEEE EEEEAATVIK NSNQKGKAKG KGKKKAEERA PSPPVEVDEP REFVLRPAPQ 
    GRTVRCRLTR DKKGMDRGMY PSYFLHLDTE KKVFLLAGRK RKRSKTANYL ISIDPTNLSR 
    GGENFIGKLR WGWASWGWGD LGQQKAIARH LCPAVPGRAP TTVGTLETSP SLGPLALMYI 
    DHVGSLLKWL SVWGGPGSLH F

Genular Protein ID: 3392040761

Symbol: Q0QD38_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 17286855

Title: Mapping of transcription start sites of human retina expressed genes.

PubMed ID: 17286855

DOI: 10.1186/1471-2164-8-42

Sequence Information:

  • Length: 20
  • Mass: 2358
  • Checksum: C4F02BEB10B6E4F8
  • Sequence:
  • MPLRDETLRE VWASDSGHEE

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.