Details for: EXTL1

Gene ID: 2134

Symbol: EXTL1

Ensembl ID: ENSG00000158008

Description: exostosin like glycosyltransferase 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: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.1541
    Cell Significance Index: 27.9600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.6255
    Cell Significance Index: 17.8500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5944
    Cell Significance Index: 119.2400
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: 0.2363
    Cell Significance Index: 3.1500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1597
    Cell Significance Index: 10.7400
  • Cell Name: L5 intratelencephalic projecting glutamatergic neuron (CL4030064)
    Fold Change: 0.1501
    Cell Significance Index: 1.6200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1448
    Cell Significance Index: 51.9200
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: 0.1323
    Cell Significance Index: 1.4500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.1168
    Cell Significance Index: 0.9000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.0885
    Cell Significance Index: 1.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0882
    Cell Significance Index: 4.6300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0526
    Cell Significance Index: 6.7400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0299
    Cell Significance Index: 2.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0273
    Cell Significance Index: 17.3300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0115
    Cell Significance Index: 7.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0014
    Cell Significance Index: 2.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0010
    Cell Significance Index: 0.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0030
    Cell Significance Index: -5.5900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0035
    Cell Significance Index: -0.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0036
    Cell Significance Index: -5.6100
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.0053
    Cell Significance Index: -0.0800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0065
    Cell Significance Index: -0.9400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0072
    Cell Significance Index: -5.2600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0079
    Cell Significance Index: -5.8800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0080
    Cell Significance Index: -6.0600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0091
    Cell Significance Index: -4.0400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0094
    Cell Significance Index: -0.3000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0097
    Cell Significance Index: -5.3200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0102
    Cell Significance Index: -5.7600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0118
    Cell Significance Index: -0.5100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0119
    Cell Significance Index: -0.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0126
    Cell Significance Index: -2.5100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0143
    Cell Significance Index: -0.9000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0158
    Cell Significance Index: -4.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0158
    Cell Significance Index: -2.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0163
    Cell Significance Index: -2.2400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0174
    Cell Significance Index: -0.7700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0232
    Cell Significance Index: -3.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0241
    Cell Significance Index: -4.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0284
    Cell Significance Index: -5.9800
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.0339
    Cell Significance Index: -0.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0359
    Cell Significance Index: -1.3600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0388
    Cell Significance Index: -1.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0391
    Cell Significance Index: -0.8300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0395
    Cell Significance Index: -4.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0426
    Cell Significance Index: -4.8800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0430
    Cell Significance Index: -0.9300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0493
    Cell Significance Index: -0.7000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0494
    Cell Significance Index: -2.3200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0499
    Cell Significance Index: -5.8200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0504
    Cell Significance Index: -5.1500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0508
    Cell Significance Index: -1.2400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0527
    Cell Significance Index: -3.2400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0548
    Cell Significance Index: -5.7100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0549
    Cell Significance Index: -1.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0585
    Cell Significance Index: -4.3600
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.0743
    Cell Significance Index: -0.8200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0792
    Cell Significance Index: -3.5900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0819
    Cell Significance Index: -1.6200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0845
    Cell Significance Index: -2.9600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0866
    Cell Significance Index: -4.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0871
    Cell Significance Index: -5.6200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0872
    Cell Significance Index: -0.8300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0955
    Cell Significance Index: -1.0400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0959
    Cell Significance Index: -2.6800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1022
    Cell Significance Index: -5.3100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1057
    Cell Significance Index: -4.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1119
    Cell Significance Index: -2.4500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1250
    Cell Significance Index: -2.5100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1264
    Cell Significance Index: -3.4400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1298
    Cell Significance Index: -1.2300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1314
    Cell Significance Index: -1.9400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1334
    Cell Significance Index: -3.4300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1368
    Cell Significance Index: -3.2800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1388
    Cell Significance Index: -3.6500
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: -0.1458
    Cell Significance Index: -1.6300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1459
    Cell Significance Index: -5.0700
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1506
    Cell Significance Index: -1.8300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1531
    Cell Significance Index: -5.6200
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.1658
    Cell Significance Index: -2.6600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1672
    Cell Significance Index: -4.1700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1692
    Cell Significance Index: -4.8500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1711
    Cell Significance Index: -3.5700
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1768
    Cell Significance Index: -3.4800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1769
    Cell Significance Index: -5.2100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1791
    Cell Significance Index: -5.1600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1886
    Cell Significance Index: -2.2000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1888
    Cell Significance Index: -5.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1895
    Cell Significance Index: -5.0600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1922
    Cell Significance Index: -5.1400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1934
    Cell Significance Index: -2.4800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2015
    Cell Significance Index: -4.1000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2042
    Cell Significance Index: -3.5300
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.2050
    Cell Significance Index: -5.1200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2060
    Cell Significance Index: -3.5300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2060
    Cell Significance Index: -2.5600
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.2126
    Cell Significance Index: -4.2400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2150
    Cell Significance Index: -4.5000
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2206
    Cell Significance Index: -5.6200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2255
    Cell Significance Index: -5.7600

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:** EXTL1 is a member of the glycosyltransferase family, which plays a crucial role in the post-translational modification of proteins. The gene is primarily expressed in various cell types, including conventional dendritic cells, kidney proximal convoluted tubule epithelial cells, and cardiac muscle myoblasts. Its expression is also observed in cells of the immune system, such as granulocyte monocyte progenitor cells and goblet cells, highlighting its potential role in immune regulation and tissue homeostasis. **Pathways and Functions:** EXTL1 is involved in several cellular processes, including: 1. **Glycosylation**: EXTL1 is a glycosyltransferase that catalyzes the transfer of glucuronic acid and galactose residues to proteins, thereby modifying their structure and function. 2. **Cellular responses to stimuli**: EXTL1 is activated in response to stress, inflammation, and oxidative stress, leading to the production of heparan sulfate proteoglycans (HSPGs) that modulate cell signaling and interactions. 3. **Endoplasmic reticulum (ER) stress response**: EXTL1 is involved in the unfolded protein response (UPR), which is a complex network of molecular pathways that help cells cope with ER stress. 4. **Skeletal system development**: EXTL1 is expressed in cartilage and bone cells, suggesting its role in the development and maintenance of the skeletal system. **Clinical Significance:** EXTL1 has been implicated in various diseases and conditions, including: 1. **Immunological disorders**: EXTL1 has been linked to autoimmune diseases, such as rheumatoid arthritis, and inflammatory conditions, such as atherosclerosis. 2. **Cancer**: EXTL1 has been identified as a potential biomarker for certain types of cancer, including colorectal and breast cancer. 3. **Neurological disorders**: EXTL1 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Cardiovascular disease**: EXTL1 has been linked to cardiovascular disease, including atherosclerosis and cardiac dysfunction. In conclusion, EXTL1 is a multifunctional gene that plays a critical role in various cellular processes, including glycosylation, cellular responses to stimuli, and endoplasmic reticulum stress response. Its dysregulation has been implicated in a range of diseases and conditions, highlighting its potential as a therapeutic target. Further research is needed to fully elucidate the mechanisms by which EXTL1 regulates cellular processes and its clinical significance. **References:** * [Insert references to relevant studies and publications] As an expert immunologist, I hope this summary has provided a comprehensive overview of the EXTL1 gene and its implications in immunological and developmental processes. Further research is necessary to fully understand the functions and clinical significance of EXTL1.

Genular Protein ID: 1292562441

Symbol: EXTL1_HUMAN

Name: Exostosin-like 1

UniProtKB Accession Codes:

Q92935 Q6GSC1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 1 CTD 1 ChEBI 5 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 16 Ensembl 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 3 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9037597

Title: Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.

PubMed ID: 9037597

DOI: 10.1101/gr.7.1.10

PubMed ID: 10480354

Title: Mutation analysis of hereditary multiple exostoses in the Chinese.

PubMed ID: 10480354

DOI: 10.1007/s004399900058

PubMed ID: 10575224

Title: Refined physical mapping and genomic structure of the EXTL1 gene.

PubMed ID: 10575224

DOI: 10.1159/000015317

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: 11390981

Title: Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.

PubMed ID: 11390981

DOI: 10.1073/pnas.131188498

Sequence Information:

  • Length: 676
  • Mass: 74697
  • Checksum: AAC7E7360E2B2776
  • Sequence:
    • MQSWRRRKSL WLALSASWLL LVLLGGFSLL RLALPPRPRP GASQGWPRWL DAELLQSFSQ 
PGELPEDAVS PPQAPHGGSC NWESCFDTSK CRGDGLKVFV YPAVGTISET HRRILASIEG 
SRFYTFSPAG ACLLLLLSLD AQTGECSSMP LQWNRGRNHL VLRLHPAPCP RTFQLGQAMV 
AEASPTVDSF RPGFDVALPF LPEAHPLRGG APGQLRQHSP QPGVALLALE EERGGWRTAD 
TGSSACPWDG RCEQDPGPGQ TQRQETLPNA TFCLISGHRP EAASRFLQAL QAGCIPVLLS 
PRWELPFSEV IDWTKAAIVA DERLPLQVLA ALQEMSPARV LALRQQTQFL WDAYFSSVEK 
VIHTTLEVIQ DRIFGTSAHP SLLWNSPPGA LLALSTFSTS PQDFPFYYLQ QGSRPEGRFS 
ALIWVGPPGQ PPLKLIQAVA GSQHCAQILV LWSNERPLPS RWPETAVPLT VIDGHRKVSD 
RFYPYSTIRT DAILSLDARS SLSTSEVDFA FLVWQSFPER MVGFLTSSHF WDEAHGGWGY 
TAERTNEFSM VLTTAAFYHR YYHTLFTHSL PKALRTLADE APTCVDVLMN FIVAAVTKLP 
PIKVPYGKQR QEAAPLAPGG PGPRPKPPAP APDCINQIAA AFGHMPLLSS RLRLDPVLFK 
DPVSVQRKKY RSLEKP

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.