Details for: C1GALT1C1

Gene ID: 29071

Symbol: C1GALT1C1

Ensembl ID: ENSG00000171155

Description: C1GALT1 specific chaperone 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: 129.1907
    Cell Significance Index: -20.1000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 77.1161
    Cell Significance Index: -19.5600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 48.1443
    Cell Significance Index: -22.7300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 43.7162
    Cell Significance Index: -17.7600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 34.0376
    Cell Significance Index: -22.8400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.7276
    Cell Significance Index: -17.8800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.4357
    Cell Significance Index: -21.5000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.2489
    Cell Significance Index: -16.7400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.4814
    Cell Significance Index: -21.6300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.6395
    Cell Significance Index: -14.2500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.6330
    Cell Significance Index: 22.2800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.4558
    Cell Significance Index: 169.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0967
    Cell Significance Index: 56.9700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9546
    Cell Significance Index: 44.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.8467
    Cell Significance Index: 58.5600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.6879
    Cell Significance Index: 6.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.6544
    Cell Significance Index: 15.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6337
    Cell Significance Index: 346.1000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.6274
    Cell Significance Index: 5.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5675
    Cell Significance Index: 102.3000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5359
    Cell Significance Index: 65.8900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.5332
    Cell Significance Index: 15.6600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5222
    Cell Significance Index: 14.2200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4373
    Cell Significance Index: 60.0600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.4313
    Cell Significance Index: 4.9000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.3242
    Cell Significance Index: 3.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3098
    Cell Significance Index: 14.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2802
    Cell Significance Index: 6.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2433
    Cell Significance Index: 31.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2413
    Cell Significance Index: 12.5700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1891
    Cell Significance Index: 83.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1542
    Cell Significance Index: 11.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1496
    Cell Significance Index: 4.3100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1274
    Cell Significance Index: 24.2500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1266
    Cell Significance Index: 2.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1177
    Cell Significance Index: 23.6200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1038
    Cell Significance Index: 7.3400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0915
    Cell Significance Index: 4.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0811
    Cell Significance Index: 8.0300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0761
    Cell Significance Index: 15.1000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0741
    Cell Significance Index: 12.6500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0471
    Cell Significance Index: 5.5500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0413
    Cell Significance Index: 14.8300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0270
    Cell Significance Index: 3.4800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0211
    Cell Significance Index: 0.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0068
    Cell Significance Index: 4.6900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0029
    Cell Significance Index: 0.1800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0004
    Cell Significance Index: 0.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0009
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0041
    Cell Significance Index: -2.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0064
    Cell Significance Index: -12.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0073
    Cell Significance Index: -5.4300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0111
    Cell Significance Index: -8.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0117
    Cell Significance Index: -21.6600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0125
    Cell Significance Index: -0.6300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0142
    Cell Significance Index: -21.7900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0151
    Cell Significance Index: -0.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0164
    Cell Significance Index: -9.2500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0169
    Cell Significance Index: -22.9300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0217
    Cell Significance Index: -13.8000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0265
    Cell Significance Index: -2.7100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0383
    Cell Significance Index: -17.3700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0393
    Cell Significance Index: -11.3000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0404
    Cell Significance Index: -8.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0411
    Cell Significance Index: -4.7100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0530
    Cell Significance Index: -3.4200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0589
    Cell Significance Index: -2.4100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0667
    Cell Significance Index: -1.7600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0787
    Cell Significance Index: -2.1100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0939
    Cell Significance Index: -15.2700
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.1005
    Cell Significance Index: -1.4400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1108
    Cell Significance Index: -16.1100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1113
    Cell Significance Index: -3.1100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1318
    Cell Significance Index: -4.2200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1356
    Cell Significance Index: -7.6100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1424
    Cell Significance Index: -16.2600
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1503
    Cell Significance Index: -2.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1754
    Cell Significance Index: -9.2100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2022
    Cell Significance Index: -3.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2038
    Cell Significance Index: -21.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2042
    Cell Significance Index: -7.1800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2138
    Cell Significance Index: -16.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2268
    Cell Significance Index: -5.6700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2269
    Cell Significance Index: -1.8500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2283
    Cell Significance Index: -3.8200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2302
    Cell Significance Index: -6.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2442
    Cell Significance Index: -19.3400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2521
    Cell Significance Index: -2.6100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2971
    Cell Significance Index: -7.5900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2986
    Cell Significance Index: -8.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3371
    Cell Significance Index: -9.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3582
    Cell Significance Index: -21.9600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3660
    Cell Significance Index: -2.4800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3850
    Cell Significance Index: -5.4000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.4162
    Cell Significance Index: -3.9600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4229
    Cell Significance Index: -10.8700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4384
    Cell Significance Index: -16.1000
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.4394
    Cell Significance Index: -2.8700
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4471
    Cell Significance Index: -5.3300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4481
    Cell Significance Index: -19.8200

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. **Function:** C1GALT1C1 acts as a specific chaperone for the C1GALT1 enzyme, facilitating the proper folding and processing of core 1 O-glycans on proteins. 2. **Expression:** C1GALT1C1 is expressed in various cell types, including germ cells, plasmablasts, serous secreting cells, and epithelial cells. 3. **Localization:** C1GALT1C1 is primarily localized to the Golgi membrane, where it interacts with the C1GALT1 enzyme. 4. **Pathway involvement:** C1GALT1C1 is involved in several biological pathways, including O-glycan processing, protein binding, protein modification, and post-translational modification. **Pathways and Functions:** 1. **O-glycan processing:** C1GALT1C1 facilitates the processing of core 1 O-glycans on proteins, which is essential for the proper functioning of various proteins, including mucins and platelet glycoproteins. 2. **Protein binding:** C1GALT1C1 interacts with various proteins, including platelet glycoproteins, and modulates their activity. 3. **Platelet activation:** C1GALT1C1 plays a crucial role in platelet activation and morphogenesis, which is essential for blood clot formation and wound healing. 4. **Protein modification:** C1GALT1C1 is involved in the modification of proteins through O-glycosylation, which is essential for protein stability, localization, and function. **Clinical Significance:** 1. **Disease association:** Defects in C1GALT1C1 have been associated with various diseases, including those related to O-glycosylation, protein metabolism, and metabolism. 2. **Cancer:** Aberrant O-glycosylation patterns have been observed in various cancers, including colorectal, breast, and lung cancer. 3. **Immunological disorders:** Defects in C1GALT1C1 have been associated with immunological disorders, including autoimmune diseases and immunodeficiency disorders. 4. **Therapeutic potential:** Understanding the role of C1GALT1C1 in glycosylation pathways may lead to the development of novel therapeutic strategies for diseases related to O-glycosylation and protein metabolism. In conclusion, C1GALT1C1 is a critical protein involved in the processing of core 1 O-glycans on various proteins, and its dysregulation has been associated with various diseases. Further research is needed to fully understand the role of C1GALT1C1 in glycosylation pathways and its potential therapeutic applications.

Genular Protein ID: 1294840229

Symbol: C1GLC_HUMAN

Name: C1GALT1-specific chaperone 1

UniProtKB Accession Codes:

Q96EU7 A8K246 Q8WWS3 Q9NZX1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 11 Ensembl 4 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 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 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12361956

Title: Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan.

PubMed ID: 12361956

DOI: 10.1074/jbc.m205839200

PubMed ID: 12464682

Title: A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase.

PubMed ID: 12464682

DOI: 10.1073/pnas.262438199

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 16251947

Title: Protein glycosylation: chaperone mutation in Tn syndrome.

PubMed ID: 16251947

DOI: 10.1038/4371252a

PubMed ID: 17038624

Title: A mutant chaperone converts a wild-type protein into a tumor-specific antigen.

PubMed ID: 17038624

DOI: 10.1126/science.1129200

PubMed ID: 36599939

Title: X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

PubMed ID: 36599939

DOI: 10.1038/s41431-022-01278-5

PubMed ID: 18537974

Title: New mutations in C1GALT1C1 in individuals with Tn positive phenotype.

PubMed ID: 18537974

DOI: 10.1111/j.1365-2141.2008.07215.x

PubMed ID: 37216524

Title: Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.

PubMed ID: 37216524

DOI: 10.1073/pnas.2211087120

Sequence Information:

  • Length: 318
  • Mass: 36382
  • Checksum: 5D766966A872CA84
  • Sequence:
    • MLSESSSFLK GVMLGSIFCA LITMLGHIRI GHGNRMHHHE HHHLQAPNKE DILKISEDER 
MELSKSFRVY CIILVKPKDV SLWAAVKETW TKHCDKAEFF SSENVKVFES INMDTNDMWL 
MMRKAYKYAF DKYRDQYNWF FLARPTTFAI IENLKYFLLK KDPSQPFYLG HTIKSGDLEY 
VGMEGGIVLS VESMKRLNSL LNIPEKCPEQ GGMIWKISED KQLAVCLKYA GVFAENAEDA 
DGKDVFNTKS VGLSIKEAMT YHPNQVVEGC CSDMAVTFNG LTPNQMHVMM YGVYRLRAFG 
HIFNDALVFL PPNGSDND

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.