Details for: LARGE1

Gene ID: 9215

Symbol: LARGE1

Ensembl ID: ENSG00000133424

Description: LARGE xylosyl- and glucuronyltransferase 1

Associated with

Cells (max top 100)

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

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 11.18
    Marker Score: 148,730
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 5.01
    Marker Score: 112,019
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 4.84
    Marker Score: 17,200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.62
    Marker Score: 11,580
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 4.43
    Marker Score: 5,519
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.37
    Marker Score: 15,614
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 3.31
    Marker Score: 1,605
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 3.28
    Marker Score: 1,775
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 3.13
    Marker Score: 8,922
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.02
    Marker Score: 5,802
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.99
    Marker Score: 6,556
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 2.93
    Marker Score: 5,327
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.91
    Marker Score: 4,887
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.82
    Marker Score: 21,629
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.76
    Marker Score: 54,977
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.71
    Marker Score: 102,885
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.7
    Marker Score: 40,377
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.62
    Marker Score: 10,960
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.6
    Marker Score: 1,513
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.51
    Marker Score: 650
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.5
    Marker Score: 2,213
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.49
    Marker Score: 10,333
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.47
    Marker Score: 52,705
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.42
    Marker Score: 89,242
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.4
    Marker Score: 758
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.4
    Marker Score: 1,004
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.39
    Marker Score: 2,752
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 2.38
    Marker Score: 1,323
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.26
    Marker Score: 8,737
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 2.2
    Marker Score: 8,526
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.19
    Marker Score: 2,085
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.16
    Marker Score: 1,667
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.14
    Marker Score: 2,368
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.13
    Marker Score: 613
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.09
    Marker Score: 1,451
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127,642
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.02
    Marker Score: 19,007
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.98
    Marker Score: 20,408
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.96
    Marker Score: 1,168
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18,305
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.9
    Marker Score: 2,345
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16,140
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.84
    Marker Score: 668
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.83
    Marker Score: 499
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.76
    Marker Score: 552
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.73
    Marker Score: 1,141
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.72
    Marker Score: 7,023
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.69
    Marker Score: 636
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.68
    Marker Score: 941
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.66
    Marker Score: 3,908
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.65
    Marker Score: 3,365
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.64
    Marker Score: 2,536
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.59
    Marker Score: 576
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.57
    Marker Score: 534
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.55
    Marker Score: 453
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.54
    Marker Score: 1,866
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.53
    Marker Score: 565
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.5
    Marker Score: 990
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.49
    Marker Score: 1,693
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,095
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.45
    Marker Score: 5,157
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.42
    Marker Score: 748
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.42
    Marker Score: 829
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.39
    Marker Score: 1,873
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.38
    Marker Score: 1,493
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.37
    Marker Score: 21,506
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.36
    Marker Score: 347
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.31
    Marker Score: 456
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.3
    Marker Score: 1,126
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.23
    Marker Score: 1,132
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.21
    Marker Score: 10,260
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.21
    Marker Score: 2,889
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.2
    Marker Score: 724
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.17
    Marker Score: 429
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.13
    Marker Score: 228
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.1
    Marker Score: 289
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.07
    Marker Score: 313
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.06
    Marker Score: 6,350
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 786
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.01
    Marker Score: 1,063
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.01
    Marker Score: 1,429
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,785
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 1
    Marker Score: 476
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,010
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.98
    Marker Score: 488
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 502
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 456
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,411
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5,214
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,734
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.9
    Marker Score: 394
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1,450
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.87
    Marker Score: 441
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.87
    Marker Score: 274
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.86
    Marker Score: 228
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.85
    Marker Score: 1,059
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.82
    Marker Score: 363

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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** The LARGE1 gene exhibits a wide range of functional and expression patterns, highlighting its importance in various cellular processes. Some key characteristics of the LARGE1 gene include: 1. **Glycosylation machinery**: LARGE1 is involved in the synthesis and modification of glycoproteins, glycosphingolipids, and glycosyltransferases, which are essential for cell-cell interactions, signaling, and recognition. 2. **Cellular localization**: The LARG1 protein is localized to the Golgi apparatus, where it regulates the synthesis and modification of glycoproteins and glycosphingolipids. 3. **Expression patterns**: LARGE1 is expressed in various cell types, including cardiac muscle cells, skeletal muscle fibers, neurons, and epithelial cells, highlighting its role in regulating cell growth, differentiation, and migration. 4. **Pathway involvement**: LARGE1 is involved in various signaling pathways, including the acetylcholine receptor signaling pathway, astrocyte differentiation, and basement membrane organization. **Pathways and Functions** The LARGE1 gene is involved in various cellular processes, including: 1. **Glycosylation and glycosphingolipid biosynthesis**: LARGE1 regulates the synthesis and modification of glycoproteins, glycosphingolipids, and glycosyltransferases, which are essential for cell-cell interactions, signaling, and recognition. 2. **Cell growth and differentiation**: LARGE1 regulates cell growth, differentiation, and migration by controlling the synthesis and modification of glycoproteins and glycosphingolipids. 3. **Signaling pathways**: LARGE1 is involved in various signaling pathways, including the acetylcholine receptor signaling pathway, astrocyte differentiation, and basement membrane organization. 4. **Tissue development and maintenance**: LARGE1 plays a crucial role in the development and maintenance of various tissues and organs, including the heart, skeletal muscle, and nervous system. **Clinical Significance** The LARGE1 gene has been implicated in various diseases and disorders, including: 1. **Defective large syndrome**: Mutations in the LARGE1 gene have been associated with defective large syndrome, a genetic disorder characterized by developmental abnormalities, including cardiac and skeletal muscle defects. 2. **MDDG6 and MDDGB6**: LARGE1 mutations have also been associated with MDDG6 and MDDGB6, two related disorders characterized by developmental abnormalities and neurological defects. 3. **Glycosylation disorders**: LARGE1 mutations have been implicated in various glycosylation disorders, including mucopolysaccharidosis and sialidosis. 4. **Cancer**: LARGE1 has been identified as a potential oncogene, with its overexpression associated with cancer progression and metastasis. In conclusion, the LARGE1 gene plays a critical role in regulating cell growth, differentiation, and migration, as well as in the development and maintenance of various tissues and organs. Its involvement in various signaling pathways and diseases highlights its importance as a therapeutic target for the treatment of various disorders.

Genular Protein ID: 2511658944

Symbol: LARG1_HUMAN

Name: Acetylglucosaminyltransferase-like 1A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9892679

Title: The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.

PubMed ID: 9892679

DOI: 10.1073/pnas.96.2.598

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 15752776

Title: LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.

PubMed ID: 15752776

DOI: 10.1016/j.bbrc.2005.02.082

PubMed ID: 15958417

Title: Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.

PubMed ID: 15958417

DOI: 10.1093/glycob/cwi094

PubMed ID: 15661757

Title: Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.

PubMed ID: 15661757

DOI: 10.1093/hmg/ddi062

PubMed ID: 19587235

Title: Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.

PubMed ID: 19587235

DOI: 10.1073/pnas.0904515106

PubMed ID: 21987822

Title: Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection.

PubMed ID: 21987822

DOI: 10.1073/pnas.1114836108

PubMed ID: 22223806

Title: Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE.

PubMed ID: 22223806

DOI: 10.1126/science.1214115

PubMed ID: 23125099

Title: Xylosyl- and glucuronyltransferase functions of LARGE in alpha-dystroglycan modification are conserved in LARGE2.

PubMed ID: 23125099

DOI: 10.1093/glycob/cws152

PubMed ID: 25279699

Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.

PubMed ID: 25279699

DOI: 10.7554/elife.03941

PubMed ID: 25279697

Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan.

PubMed ID: 25279697

DOI: 10.7554/elife.03943

PubMed ID: 25138275

Title: Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues.

PubMed ID: 25138275

DOI: 10.1074/jbc.m114.597831

PubMed ID: 32975514

Title: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.

PubMed ID: 32975514

DOI: 10.7554/elife.61388

PubMed ID: 12966029

Title: Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.

PubMed ID: 12966029

DOI: 10.1093/hmg/ddg307

PubMed ID: 19067344

Title: Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

PubMed ID: 19067344

DOI: 10.1002/ana.21482

PubMed ID: 19299310

Title: Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

PubMed ID: 19299310

DOI: 10.1212/01.wnl.0000346518.68110.60

PubMed ID: 24709677

Title: Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

PubMed ID: 24709677

DOI: 10.1097/nen.0000000000000065

Sequence Information:

  • Length: 756
  • Mass: 88066
  • Checksum: B022E118379AA17C
  • Sequence:
  • MLGICRGRRK FLAASLSLLC IPAITWIYLF SGSFEDGKPV SLSPLESQAH SPRYTASSQR 
    ERESLEVRMR EVEEENRALR RQLSLAQGRA PSHRRGNHSK TYSMEEGTGD SENLRAGIVA 
    GNSSECGQQP VVEKCETIHV AIVCAGYNAS RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ 
    ILATLFQTWM VPAVRVDFYN ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV 
    LDTDITFATD IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI 
    LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY QLPCFWNVQL 
    SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL YLTFLEYDGN LLRRELFGCP 
    SEADVNSENL QKQLSELDED DLCYEFRRER FTVHRTHLYF LHYEYEPAAD STDVTLVAQL 
    SMDRLQMLEA ICKHWEGPIS LALYLSDAEA QQFLRYAQGS EVLMSRHNVG YHIVYKEGQF 
    YPVNLLRNVA MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL 
    RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYR VEWEADFEPY 
    VVVRRDCPEY DRRFVGFGWN KVAHIMELDV QEYEFIVLPN AYMIHMPHAP SFDITKFRSN 
    KQYRICLKTL KEEFQQDMSR RYGFAALKYL TAENNS

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.