Genular: Defining Cellular Identity and Function

Details for: ARSG

Gene ID: 22901

Symbol: ARSG

Ensembl ID: ENSG00000141337

Description: arylsulfatase G

Associated with

Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
(R-HSA-163841)
Glycosphingolipid catabolism
(R-HSA-9840310)
Glycosphingolipid metabolism
(R-HSA-1660662)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Sphingolipid metabolism
(R-HSA-428157)
The activation of arylsulfatases
(R-HSA-1663150)
Arylsulfatase activity
(GO:0004065)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum lumen
(GO:0005788)
Extracellular space
(GO:0005615)
Lysosome
(GO:0005764)
Metal ion binding
(GO:0046872)
N-sulfoglucosamine-3-sulfatase activity
(GO:0033889)
Sulfur compound metabolic process
(GO:0006790)

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: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.96
Marker Score: 821
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 1.89
Marker Score: 1,079
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.79
Marker Score: 3,646
Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: 1.71
Marker Score: 4,276
Cell Name: interneuron (CL0000099)
Fold Change: 1.65
Marker Score: 755
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 1.56
Marker Score: 492
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 1.55
Marker Score: 493
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1.55
Marker Score: 453
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 1.55
Marker Score: 57,100
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.52
Marker Score: 416
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.44
Marker Score: 867
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.32
Marker Score: 20,671
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 1.31
Marker Score: 4,668
Cell Name: cardiac neuron (CL0010022)
Fold Change: 1.31
Marker Score: 1,627
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 1.3
Marker Score: 29,154
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.27
Marker Score: 1,966
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 1.23
Marker Score: 595
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.23
Marker Score: 75,355
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.22
Marker Score: 1,345
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 1.2
Marker Score: 4,986
Cell Name: mononuclear cell (CL0000842)
Fold Change: 1.14
Marker Score: 367
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 1.11
Marker Score: 37,901
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.02
Marker Score: 9,722
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 1.01
Marker Score: 316
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 1
Marker Score: 19,837
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,402
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.98
Marker Score: 5,881
Cell Name: fibroblast of connective tissue of prostate (CL1000299)
Fold Change: 0.97
Marker Score: 242
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.97
Marker Score: 9,116
Cell Name: prostate stromal cell (CL0002622)
Fold Change: 0.96
Marker Score: 242
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,408
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.94
Marker Score: 35,803
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.94
Marker Score: 485
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.94
Marker Score: 3,924
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.94
Marker Score: 13,990
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.93
Marker Score: 2,201
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.93
Marker Score: 439
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.92
Marker Score: 549
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.92
Marker Score: 3,550
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 0.92
Marker Score: 382
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2,722
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.9
Marker Score: 7,722
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5,052
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.88
Marker Score: 354
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.88
Marker Score: 595
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,294
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.85
Marker Score: 307
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.85
Marker Score: 407
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.85
Marker Score: 353
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.84
Marker Score: 965
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.84
Marker Score: 1,183
Cell Name: decidual cell (CL2000002)
Fold Change: 0.79
Marker Score: 3,400
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 0.77
Marker Score: 3,552
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.76
Marker Score: 1,231
Cell Name: neuron (CL0000540)
Fold Change: 0.74
Marker Score: 3,009
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.74
Marker Score: 3,098
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.73
Marker Score: 554
Cell Name: fat cell (CL0000136)
Fold Change: 0.71
Marker Score: 394
Cell Name: brush cell (CL0002204)
Fold Change: 0.7
Marker Score: 640
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.67
Marker Score: 389
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.66
Marker Score: 170
Cell Name: gut endothelial cell (CL0000131)
Fold Change: 0.66
Marker Score: 235
Cell Name: pancreatic stellate cell (CL0002410)
Fold Change: 0.65
Marker Score: 412
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.63
Marker Score: 11,199
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.63
Marker Score: 2,426
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.61
Marker Score: 1,350
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 0.61
Marker Score: 650
Cell Name: germ cell (CL0000586)
Fold Change: 0.61
Marker Score: 1,069
Cell Name: melanocyte (CL0000148)
Fold Change: 0.61
Marker Score: 247
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 0.61
Marker Score: 176
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.6
Marker Score: 267
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.59
Marker Score: 313
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.58
Marker Score: 4,438
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.57
Marker Score: 955
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 0.57
Marker Score: 501
Cell Name: late promyelocyte (CL0002151)
Fold Change: 0.55
Marker Score: 139
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.54
Marker Score: 317
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 0.54
Marker Score: 1,537
Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: 0.54
Marker Score: 610
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.53
Marker Score: 426
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.52
Marker Score: 165
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.52
Marker Score: 515
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.51
Marker Score: 252
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.51
Marker Score: 390
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.5
Marker Score: 331
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.5
Marker Score: 130
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 0.49
Marker Score: 1,216
Cell Name: mature microglial cell (CL0002629)
Fold Change: 0.49
Marker Score: 178
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 0.49
Marker Score: 4,134
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.48
Marker Score: 304
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.46
Marker Score: 452
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.46
Marker Score: 161
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.46
Marker Score: 15,565
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.45
Marker Score: 875
Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.45
Marker Score: 294
Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.44
Marker Score: 165
Cell Name: tracheobronchial goblet cell (CL0019003)
Fold Change: 0.44
Marker Score: 121
Cell Name: Schwann cell (CL0002573)
Fold Change: 0.44
Marker Score: 153
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.43
Marker Score: 110
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 0.43
Marker Score: 91

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.

**Key Characteristics:** ARSG is a sulfatase enzyme that belongs to the alpha-galactosidase family. It is characterized by its ability to remove sulfate groups from specific substrates, including glycosphingolipids and proteins. The enzyme is composed of 12 transmembrane domains and requires calcium ions for its catalytic activity. ARSG is specifically expressed in the endoplasmic reticulum lumen, where it interacts with other proteins to regulate the activity of arylsulfatases. **Pathways and Functions:** ARSG plays a crucial role in the degradation of glycosphingolipids and proteins through the activation of arylsulfatases. This process involves the removal of sulfate groups from specific substrates, leading to the breakdown of these molecules into smaller fragments. The activation of arylsulfatases by ARSG is a key step in the regulation of glycosphingolipid and protein metabolism. ARSG also interacts with other proteins involved in post-translational modification, including gamma carboxylation and hypusinylation. **Clinical Significance:** Dysregulation of ARSG has been implicated in various diseases, including lysosomal storage disorders and metabolic disorders. Mutations in the ARSG gene have been associated with X-linked intellectual disability and other neurodevelopmental disorders. Additionally, ARSG has been shown to play a role in the regulation of sphingolipid metabolism, which is critical for maintaining cellular homeostasis. The activation of arylsulfatases by ARSG has also been implicated in the regulation of protein metabolism, including the degradation of proteins involved in neurodegenerative diseases. **Clinical Implications:** The dysregulation of ARSG has significant clinical implications, including the development of lysosomal storage disorders and metabolic disorders. The identification of mutations in the ARSG gene has led to the development of diagnostic tests for these conditions. Furthermore, the study of ARSG has shed light on the molecular mechanisms underlying neurodevelopmental disorders, highlighting the importance of ARSG in regulating protein and glycosphingolipid metabolism. In conclusion, ARSG is a critical enzyme involved in the regulation of glycosphingolipid and protein metabolism. Its dysregulation has significant clinical implications, including the development of lysosomal storage disorders and metabolic disorders. Further research into the molecular mechanisms of ARSG is necessary to develop effective therapeutic strategies for these conditions. **Implications for Future Research:** Future research should focus on the molecular mechanisms of ARSG, including its interactions with other proteins and its role in regulating glycosphingolipid and protein metabolism. Additionally, studies on the clinical implications of ARSG dysregulation should be conducted to develop effective diagnostic tests and therapeutic strategies for these conditions. The identification of potential therapeutic targets for ARSG-related diseases should also be explored, including small molecule inhibitors and gene therapy approaches.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Arylsulfatase G

Genular Protein ID: 2084845442

Symbol: ARSG_HUMAN

Name: Arylsulfatase G

UniProtKB Accession Codes:

Q96EG1 Q6UXF2 Q9Y2K4

Database IDs:

Citations:

PubMed ID: 10231032

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

PubMed ID: 10231032

DOI: 10.1093/dnares/6.1.63

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: 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: 12461688

Title: Molecular and biochemical characterisation of a novel sulphatase gene: arylsulfatase G (ARSG).

PubMed ID: 12461688

DOI: 10.1038/sj.ejhg.5200887

PubMed ID: 18283100

Title: Arylsulfatase G, a novel lysosomal sulfatase.

PubMed ID: 18283100

DOI: 10.1074/jbc.m709917200

PubMed ID: 22689975

Title: Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.

PubMed ID: 22689975

DOI: 10.1073/pnas.1202071109

PubMed ID: 25135642

Title: Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.

PubMed ID: 25135642

DOI: 10.1074/jbc.m114.584144

PubMed ID: 29300381

Title: A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.

PubMed ID: 29300381

DOI: 10.1038/gim.2017.227

PubMed ID: 25825126

Title: Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

PubMed ID: 25825126

DOI: 10.1007/s00415-015-7718-3

Sequence Information:

Length: 525
Mass: 57061
Checksum: ADAB673A02B25754
Sequence:

MGWLFLKVLL AGVSFSGFLY PLVDFCISGK TRGQKPNFVI ILADDMGWGD LGANWAETKD 
TANLDKMASE GMRFVDFHAA ASTCSPSRAS LLTGRLGLRN GVTRNFAVTS VGGLPLNETT 
LAEVLQQAGY VTGIIGKWHL GHHGSYHPNF RGFDYYFGIP YSHDMGCTDT PGYNHPPCPA 
CPQGDGPSRN LQRDCYTDVA LPLYENLNIV EQPVNLSSLA QKYAEKATQF IQRASTSGRP 
FLLYVALAHM HVPLPVTQLP AAPRGRSLYG AGLWEMDSLV GQIKDKVDHT VKENTFLWFT 
GDNGPWAQKC ELAGSVGPFT GFWQTRQGGS PAKQTTWEGG HRVPALAYWP GRVPVNVTST 
ALLSVLDIFP TVVALAQASL PQGRRFDGVD VSEVLFGRSQ PGHRVLFHPN SGAAGEFGAL 
QTVRLERYKA FYITGGARAC DGSTGPELQH KFPLIFNLED DTAEAVPLER GGAEYQAVLP 
EVRKVLADVL QDIANDNISS ADYTQDPSVT PCCNPYQIAC RCQAA

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.

Details for: ARSG

Associated with

Cells (max top 100)

Other Information

Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. PubMed ID: 10231032

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. PubMed ID: 12975309

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Molecular and biochemical characterisation of a novel sulphatase gene: arylsulfatase G (ARSG). PubMed ID: 12461688

Arylsulfatase G, a novel lysosomal sulfatase. PubMed ID: 18283100

Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. PubMed ID: 22689975

Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity. PubMed ID: 25135642

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. PubMed ID: 29300381

Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia. PubMed ID: 25825126