Details for: GALNS

Gene ID: 2588

Symbol: GALNS

Ensembl ID: ENSG00000141012

Description: galactosamine (N-acetyl)-6-sulfatase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.23
    Marker Score: 10674
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.14
    Marker Score: 1989
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.07
    Marker Score: 2035
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71761
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47984
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.97
    Marker Score: 3351
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 487
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.94
    Marker Score: 1447
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2718
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9
    Marker Score: 14054
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.89
    Marker Score: 32824
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5022
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5261
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.86
    Marker Score: 408
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.82
    Marker Score: 1562
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.8
    Marker Score: 227
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.79
    Marker Score: 1134
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.79
    Marker Score: 195
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.77
    Marker Score: 6648
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.77
    Marker Score: 465
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.76
    Marker Score: 701
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1547.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 581
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.74
    Marker Score: 1749
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.74
    Marker Score: 238
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.74
    Marker Score: 891
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.73
    Marker Score: 10950
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 377
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.72
    Marker Score: 290
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.72
    Marker Score: 207
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.69
    Marker Score: 4160
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.69
    Marker Score: 13746
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2888
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 621
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.68
    Marker Score: 41815
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.68
    Marker Score: 2817
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.67
    Marker Score: 25513
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 169
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.65
    Marker Score: 6203
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.64
    Marker Score: 4905
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.61
    Marker Score: 291
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.58
    Marker Score: 12389
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 433
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.54
    Marker Score: 170
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.54
    Marker Score: 596
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.54
    Marker Score: 2070
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.52
    Marker Score: 4925
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.51
    Marker Score: 592
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.51
    Marker Score: 5288
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5
    Marker Score: 17397
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.49
    Marker Score: 782
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.47
    Marker Score: 213
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.46
    Marker Score: 448
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.46
    Marker Score: 11876
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.45
    Marker Score: 225
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.45
    Marker Score: 101
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.45
    Marker Score: 295
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.45
    Marker Score: 1922
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.44
    Marker Score: 5828
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 0.44
    Marker Score: 600
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.43
    Marker Score: 1129
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.43
    Marker Score: 106
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.43
    Marker Score: 23986
  • Cell Name: osteoblast (CL0000062)
    Fold Change: 0.43
    Marker Score: 229
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 178
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.42
    Marker Score: 267
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.42
    Marker Score: 806
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.42
    Marker Score: 363
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.41
    Marker Score: 1533
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.41
    Marker Score: 88
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.41
    Marker Score: 251
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.41
    Marker Score: 130
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.41
    Marker Score: 106
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.41
    Marker Score: 185
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.4
    Marker Score: 165
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.4
    Marker Score: 496
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.4
    Marker Score: 986
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.4
    Marker Score: 566
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 177
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.4
    Marker Score: 431
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.4
    Marker Score: 1086
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.4
    Marker Score: 515
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.39
    Marker Score: 137
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.39
    Marker Score: 250
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.38
    Marker Score: 84
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.38
    Marker Score: 991
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.38
    Marker Score: 242
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.38
    Marker Score: 185
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.38
    Marker Score: 97
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.38
    Marker Score: 339
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.38
    Marker Score: 2298
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.38
    Marker Score: 379
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.38
    Marker Score: 130
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.37
    Marker Score: 450.5
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.37
    Marker Score: 188

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Other Information

**Key characteristics** * The GALNS gene is located on chromosome 17q25. * It is a single-exon gene that is approximately 2.5 kb in length. * The protein encoded by the GALNS gene is a transmembrane protein that is expressed in a variety of cell types. * The protein is a glycoprotein that is composed of 130 amino acids. * It is a member of the galactoside 6-sulfatase family of enzymes. **Pathways and functions** The GALNS gene is involved in a number of pathways and functions, including: * The synthesis of keratan sulfate, which is a major component of the extracellular matrix. * The degradation of galactosamine, which is an important nutrient for cells. * The regulation of inflammation. * The maintenance of tissue integrity. **Clinical significance** Mutations in the GALNS gene have been linked to a number of human diseases, including: * Mucopolysaccharidoses, a group of disorders that are characterized by the accumulation of glycosaminoglycans in the joints and other tissues. * Disease of carbohydrate metabolism, a group of disorders that are characterized by the accumulation of galactose and galactosamine in the blood. * Diseases of metabolism, a group of disorders that are characterized by the accumulation of metabolites in the blood. * Keratan sulfate/keratin metabolism disorders, a group of disorders that are characterized by the accumulation of keratan sulfate and keratin in the skin and hair. * Immune system disorders, a group of disorders that are characterized by the dysfunction of the immune system. **Conclusion** The GALNS gene is an important gene that plays a vital role in the metabolism of galactosamine in the body. Mutations in the GALNS gene have been linked to a number of human diseases, highlighting the importance of this gene in human health.

Genular Protein ID: 3608982954

Symbol: GALNS_HUMAN

Name: N-acetylgalactosamine-6-sulfatase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1755850

Title: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

PubMed ID: 1755850

DOI: 10.1016/0006-291x(91)91244-7

PubMed ID: 8001980

Title: Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.

PubMed ID: 8001980

DOI: 10.1006/geno.1994.1443

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: 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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 22940367

Title: The structure of human GALNS reveals the molecular basis for mucopolysaccharidosis IV A.

PubMed ID: 22940367

DOI: 10.1016/j.jmb.2012.08.020

PubMed ID: 1522213

Title: Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.

PubMed ID: 1522213

DOI: 10.1172/jci115919

PubMed ID: 7668283

Title: Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

PubMed ID: 7668283

PubMed ID: 7795586

Title: Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

PubMed ID: 7795586

DOI: 10.1093/hmg/4.3.341

PubMed ID: 7633425

Title: Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.

PubMed ID: 7633425

DOI: 10.1093/hmg/4.4.741

PubMed ID: 7581409

Title: Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

PubMed ID: 7581409

DOI: 10.1002/humu.1380060218

PubMed ID: 8651279

Title: Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

PubMed ID: 8651279

PubMed ID: 8826435

Title: Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).

PubMed ID: 8826435

DOI: 10.1002/(sici)1096-8628(19960628)63:4<558::aid-ajmg9>3.0.co;2-k

PubMed ID: 9298823

Title: Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.

PubMed ID: 9298823

DOI: 10.1002/(sici)1098-1004(1997)10:3<223::aid-humu8>3.0.co;2-j

PubMed ID: 9375852

Title: Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.

PubMed ID: 9375852

DOI: 10.1002/(sici)1098-1004(1997)10:5<368::aid-humu6>3.0.co;2-b

PubMed ID: 9521421

Title: Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

PubMed ID: 9521421

DOI: 10.1002/(sici)1098-1004(1998)11:3<202::aid-humu4>3.0.co;2-j

PubMed ID: 9452036

Title: Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio disease.

PubMed ID: 9452036

DOI: 10.1002/humu.1380110115

PubMed ID: 16287098

Title: Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

PubMed ID: 16287098

DOI: 10.1002/humu.20257

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 24726177

Title: Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

PubMed ID: 24726177

DOI: 10.1016/j.ymgme.2014.03.004

Sequence Information:

  • Length: 522
  • Mass: 58026
  • Checksum: 1D086E528AAAE949
  • Sequence:
  • MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG EPSRETPNLD 
    RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT NAHARNAYTP QEIVGGIPDS 
    EQLLPELLKK AGYVSKIVGK WHLGHRPQFH PLKHGFDEWF GSPNCHFGPY DNKARPNIPV 
    YRDWEMVGRY YEEFPINLKT GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY 
    ASKPFLGTSQ RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG 
    GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL ALAGLTPPSD 
    RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA HFWTWTNSWE NFRQGIDFCP 
    GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE RFPLSFASAE YQEALSRITS VVQQHQEALV 
    PAQPQLNVCN WAVMNWAPPG CEKLGKCLTP PESIPKKCLW SH

Genular Protein ID: 1926451998

Symbol: Q6YL38_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 337
  • Mass: 37579
  • Checksum: 7D6A6DBF166CE355
  • Sequence:
  • MVGRYYEEFP INLKTGEANL TQIYLQEALD FIKRQARHHP FFLYWAVDAT HAPVYASKPF 
    LGTSQRGRYG DAVREIDDSI GKILELLQDL HVADNTFVFF TSDNGAALIS APEQGGSNGP 
    FLCGKQTTFE GGMREPALAW WPGHVTAGQV SHQLGSIMDL FTTSLALAGL TPPSDRAIDG 
    LNLLPTLLQG RLMDRPIFYY RGDTLMAATL GQHKAHFWTW TNSWENFRQG IDFCPGQNVS 
    GVTTHNLEDH TKLPLIFHLG RDPGERFPLS FASAEYQEAL SRITSVVQQH QEALVPAQPQ 
    LNVCNWAVMN WAPPGCEKLG KCLTPPESIP KKCLWSH

Genular Protein ID: 3250203457

Symbol: Q96I49_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

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

Sequence Information:

  • Length: 238
  • Mass: 26148
  • Checksum: BC4810E73D89D5ED
  • Sequence:
  • FTSDNGAALI SAPEQGGSNG PFLCGKQTTF EGGMREPALA WWPGHVTAGQ VSHQLGSIMD 
    LFTTSLALAG LTPPSDRAID GLNLLPTLLQ GRLMDRPIFY YRGDTLMAAT LGQHKAHFWT 
    WTNSWENFRQ GIDFCPGQNV SGVTTHNLED HTKLPLIFHL GRDPGERFPL SFASAEYQEA 
    LSRITSVVQQ HQEALVPAQP QLNVCNWAVM NWAPPGCEKL GKCLTPPESI PKKCLWSH

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. For the full schema, download it here.