Details for: CLPTM1

Gene ID: 1209

Symbol: CLPTM1

Ensembl ID: ENSG00000104853

Description: CLPTM1 regulator of GABA type A receptor forward trafficking

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: 223.1505
    Cell Significance Index: -34.7100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 141.4190
    Cell Significance Index: -35.8700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 85.3168
    Cell Significance Index: -40.2800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 83.1985
    Cell Significance Index: -33.8000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 74.5745
    Cell Significance Index: -38.3600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 35.6117
    Cell Significance Index: -34.0000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.8040
    Cell Significance Index: -37.9800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.5968
    Cell Significance Index: -33.7500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.9061
    Cell Significance Index: -39.0900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.0185
    Cell Significance Index: -27.7000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.5985
    Cell Significance Index: -16.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.8951
    Cell Significance Index: 337.3900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.3228
    Cell Significance Index: 62.2400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.2076
    Cell Significance Index: 359.0400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1915
    Cell Significance Index: 71.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.1612
    Cell Significance Index: 60.9700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.1542
    Cell Significance Index: 60.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0723
    Cell Significance Index: 215.1000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9485
    Cell Significance Index: 170.9800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7891
    Cell Significance Index: 156.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7438
    Cell Significance Index: 34.6800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6975
    Cell Significance Index: 20.1000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6733
    Cell Significance Index: 92.4600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5843
    Cell Significance Index: 30.3600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5623
    Cell Significance Index: 307.0800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5313
    Cell Significance Index: 24.0800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5181
    Cell Significance Index: 467.8000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5125
    Cell Significance Index: 354.4700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5099
    Cell Significance Index: 182.8800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4689
    Cell Significance Index: 12.5200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.4201
    Cell Significance Index: 48.1400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3736
    Cell Significance Index: 45.9400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3685
    Cell Significance Index: 17.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.3511
    Cell Significance Index: 219.2600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3419
    Cell Significance Index: 58.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3240
    Cell Significance Index: 24.1500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3229
    Cell Significance Index: 142.7800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2915
    Cell Significance Index: 37.6600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2915
    Cell Significance Index: 18.3800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.2553
    Cell Significance Index: 6.9500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2548
    Cell Significance Index: 7.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2304
    Cell Significance Index: 29.5400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1557
    Cell Significance Index: 18.3600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1439
    Cell Significance Index: 11.0500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1353
    Cell Significance Index: 9.5700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1184
    Cell Significance Index: 11.7100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0776
    Cell Significance Index: 1.3300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0651
    Cell Significance Index: 12.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0081
    Cell Significance Index: 15.3000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0018
    Cell Significance Index: -1.3900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0058
    Cell Significance Index: -4.2900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0107
    Cell Significance Index: -19.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0135
    Cell Significance Index: -10.0300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0165
    Cell Significance Index: -25.4100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0239
    Cell Significance Index: -32.5300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0290
    Cell Significance Index: -18.4000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0394
    Cell Significance Index: -4.0300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0404
    Cell Significance Index: -18.3300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0449
    Cell Significance Index: -25.3100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0776
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0893
    Cell Significance Index: -18.8100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0922
    Cell Significance Index: -1.9300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0973
    Cell Significance Index: -3.4200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1093
    Cell Significance Index: -1.8300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1108
    Cell Significance Index: -7.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1123
    Cell Significance Index: -32.3200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1237
    Cell Significance Index: -5.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1344
    Cell Significance Index: -8.2600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1347
    Cell Significance Index: -3.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1477
    Cell Significance Index: -9.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1746
    Cell Significance Index: -25.3900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1774
    Cell Significance Index: -3.6800
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1778
    Cell Significance Index: -1.4500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2128
    Cell Significance Index: -6.2500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2219
    Cell Significance Index: -25.3300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.2363
    Cell Significance Index: -8.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2639
    Cell Significance Index: -7.5300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2662
    Cell Significance Index: -5.6700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2677
    Cell Significance Index: -5.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2709
    Cell Significance Index: -10.2600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2913
    Cell Significance Index: -2.6800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2926
    Cell Significance Index: -9.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3051
    Cell Significance Index: -17.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3531
    Cell Significance Index: -36.7700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3912
    Cell Significance Index: -5.3400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4105
    Cell Significance Index: -25.1700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4176
    Cell Significance Index: -10.4400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4412
    Cell Significance Index: -34.9400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4795
    Cell Significance Index: -10.5000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5644
    Cell Significance Index: -12.0700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6108
    Cell Significance Index: -15.7000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6514
    Cell Significance Index: -16.6400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6627
    Cell Significance Index: -9.9300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.7161
    Cell Significance Index: -19.1600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7852
    Cell Significance Index: -13.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7985
    Cell Significance Index: -25.4300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.8272
    Cell Significance Index: -19.1100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.8275
    Cell Significance Index: -15.3000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.8435
    Cell Significance Index: -29.5500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8454
    Cell Significance Index: -27.6800

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:** CLPTM1 is highly expressed in cells that are involved in neurotransmission and immune function, including neurons, GABAergic amacrine cells, and natural killer cells. 2. **Function:** CLPTM1 regulates the forward trafficking of GABA type A receptors, which is essential for the proper functioning of these receptors. 3. **Cellular Localization:** CLPTM1 is primarily localized to the plasma membrane, where it interacts with GABA type A receptors. 4. **Regulatory Mechanisms:** CLPTM1 modulates the activity of GABA type A receptors through its interaction with the receptor's trafficking machinery. **Pathways and Functions:** 1. **GABA Type A Receptor Trafficking:** CLPTM1 regulates the forward trafficking of GABA type A receptors, which is essential for the proper functioning of these receptors. 2. **Immune Cell Function:** CLPTM1 modulates the activity of GABA type A receptors on immune cells, including natural killer cells and T cells, influencing their function and overall immune homeostasis. 3. **Cell Differentiation:** CLPTM1 is involved in the regulation of cell differentiation, particularly in the development of cortical cells in the adrenal gland. 4. **Regulation of T Cell Differentiation:** CLPTM1 regulates the differentiation of T cells in the thymus, which is essential for the development of a functional immune system. **Clinical Significance:** Dysregulation of CLPTM1 has been implicated in various neurological and autoimmune disorders, including: 1. **Neurological Disorders:** CLPTM1 mutations have been associated with neurological disorders, such as epilepsy and schizophrenia. 2. **Autoimmune Diseases:** CLPTM1 dysregulation has been implicated in autoimmune diseases, including multiple sclerosis and type 1 diabetes. 3. **Immunological Disorders:** CLPTM1 modulates the activity of GABA type A receptors on immune cells, influencing their function and overall immune homeostasis. In conclusion, CLPTM1 plays a crucial role in regulating GABA type A receptor forward trafficking, which has significant implications for immune cell function and overall immune homeostasis. Further studies are needed to fully understand the mechanisms by which CLPTM1 regulates GABA type A receptor trafficking and its role in various neurological and autoimmune disorders.

Genular Protein ID: 2054286995

Symbol: CLPT1_HUMAN

Name: Cleft lip and palate transmembrane protein 1

UniProtKB Accession Codes:

O96005 B3KQH2 B4DDS3 B4E2X9 B7Z9X9 F5H8J3 Q53ET6 Q9BSS5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 12 Ensembl 3 ExpressionAtlas 1 GO 7 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 3 STRING 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9828125

Title: Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

PubMed ID: 9828125

DOI: 10.1006/geno.1998.5577

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 25489052

Title: Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.

PubMed ID: 25489052

DOI: 10.1093/hmg/ddu611

PubMed ID: 29255114

Title: N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.

PubMed ID: 29255114

DOI: 10.1083/jcb.201706135

Sequence Information:

  • Length: 669
  • Mass: 76097
  • Checksum: 769AB9D291917339
  • Sequence:
    • MAAAQEADGA RSAVVAAGGG SSGQVTSNGS IGRDPPAETQ PQNPPAQPAP NAWQVIKGVL 
FRIFIIWAIS SWFRRGPAPQ DQAGPGGAPR VASRNLFPKD TLMNLHVYIS EHEHFTDFNA 
TSALFWEQHD LVYGDWTSGE NSDGCYEHFA ELDIPQSVQQ NGSIYIHVYF TKSGFHPDPR 
QKALYRRLAT VHMSRMINKY KRRRFQKTKN LLTGETEADP EMIKRAEDYG PVEVISHWHP 
NITINIVDDH TPWVKGSVPP PLDQYVKFDA VSGDYYPIIY FNDYWNLQKD YYPINESLAS 
LPLRVSFCPL SLWRWQLYAA QSTKSPWNFL GDELYEQSDE EQDSVKVALL ETNPYLLALT 
IIVSIVHSVF EFLAFKNDIQ FWNSRQSLEG LSVRSVFFGV FQSFVVLLYI LDNETNFVVQ 
VSVFIGVLID LWKITKVMDV RLDREHRVAG IFPRLSFKDK STYIESSTKV YDDMAFRYLS 
WILFPLLGCY AVYSLLYLEH KGWYSWVLSM LYGFLLTFGF ITMTPQLFIN YKLKSVAHLP 
WRMLTYKALN TFIDDLFAFV IKMPVMYRIG CLRDDVVFFI YLYQRWIYRV DPTRVNEFGM 
SGEDPTAAAP VAEVPTAAGA LTPTPAPTTT TATREEASTS LPTKPTQGAS SASEPQEAPP 
KPAEDKKKD

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.