Gene GALNT3 - ENSG00000115339 | NCBI Gene ID: 2591

Details for: GALNT3

Gene ID: 2591

Symbol: GALNT3

Ensembl ID: ENSG00000115339

Description: polypeptide N-acetylgalactosaminyltransferase 3

Associated with

Defective galnt3 causes hftc
(R-HSA-5083625)
Disease
(R-HSA-1643685)
Diseases associated with o-glycosylation of proteins
(R-HSA-3906995)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Fgfr3 ligand binding and activation
(R-HSA-190239)
Fgfr3c ligand binding and activation
(R-HSA-190372)
Metabolism of proteins
(R-HSA-392499)
O-linked glycosylation
(R-HSA-5173105)
O-linked glycosylation of mucins
(R-HSA-913709)
Post-translational protein modification
(R-HSA-597592)
Signaling by fgfr
(R-HSA-190236)
Signaling by fgfr3
(R-HSA-5654741)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Calcium ion binding
(GO:0005509)
Carbohydrate binding
(GO:0030246)
Carbohydrate metabolic process
(GO:0005975)
Extracellular exosome
(GO:0070062)
Fibroblast growth factor receptor signaling pathway
(GO:0008543)
Golgi apparatus
(GO:0005794)
Golgi cisterna membrane
(GO:0032580)
Golgi membrane
(GO:0000139)
Manganese ion binding
(GO:0030145)
Membrane
(GO:0016020)
O-glycan processing
(GO:0016266)
Perinuclear region of cytoplasm
(GO:0048471)
Polypeptide n-acetylgalactosaminyltransferase activity
(GO:0004653)
Protein o-linked glycosylation
(GO:0006493)
Protein o-linked glycosylation via serine
(GO:0018242)
Protein o-linked glycosylation via threonine
(GO:0018243)
Spermatogenesis
(GO:0007283)

Cells (max top 100)

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

Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 3.97
Marker Score: 33582
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 2.53
Marker Score: 1990
Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.12
Marker Score: 4801
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.04
Marker Score: 4659
Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 1.99
Marker Score: 2090
Cell Name: retina horizontal cell (CL0000745)
Fold Change: 1.92
Marker Score: 1844
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 1.86
Marker Score: 11837
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 1.85
Marker Score: 1770.5
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.8
Marker Score: 1988
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 1.76
Marker Score: 2592
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 1.72
Marker Score: 8436
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 1.63
Marker Score: 3977
Cell Name: luminal epithelial cell of mammary gland (CL0002326)
Fold Change: 1.62
Marker Score: 2869
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.51
Marker Score: 375
Cell Name: cell in vitro (CL0001034)
Fold Change: 1.51
Marker Score: 52261
Cell Name: peptic cell (CL0000155)
Fold Change: 1.5
Marker Score: 630
Cell Name: mural cell (CL0008034)
Fold Change: 1.47
Marker Score: 168273
Cell Name: bronchial goblet cell (CL1000312)
Fold Change: 1.45
Marker Score: 717
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 1.43
Marker Score: 12454
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 1.37
Marker Score: 934
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 1.37
Marker Score: 797
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 1.36
Marker Score: 4269
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 1.36
Marker Score: 430
Cell Name: respiratory goblet cell (CL0002370)
Fold Change: 1.34
Marker Score: 387
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 1.33
Marker Score: 1383
Cell Name: duct epithelial cell (CL0000068)
Fold Change: 1.31
Marker Score: 614
Cell Name: stem cell (CL0000034)
Fold Change: 1.27
Marker Score: 3028
Cell Name: enterocyte (CL0000584)
Fold Change: 1.24
Marker Score: 5964
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 1.24
Marker Score: 10704
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 1.11
Marker Score: 1108
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 1.1
Marker Score: 2779
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251753
Cell Name: multi-ciliated epithelial cell (CL0005012)
Fold Change: 1.04
Marker Score: 1972
Cell Name: basal cell (CL0000646)
Fold Change: 1.04
Marker Score: 1339
Cell Name: secretory cell (CL0000151)
Fold Change: 1.02
Marker Score: 1862
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 1.02
Marker Score: 6634
Cell Name: intestinal crypt stem cell (CL0002250)
Fold Change: 1.01
Marker Score: 379
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71772
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47996
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.99
Marker Score: 1874
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30402
Cell Name: pneumocyte (CL0000322)
Fold Change: 0.96
Marker Score: 1548
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.96
Marker Score: 494
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.95
Marker Score: 449
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2407
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.94
Marker Score: 3216
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5308
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.92
Marker Score: 1494
Cell Name: lung ciliated cell (CL1000271)
Fold Change: 0.91
Marker Score: 432
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2725
Cell Name: lung secretory cell (CL1000272)
Fold Change: 0.9
Marker Score: 801.5
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 0.89
Marker Score: 593
Cell Name: lung goblet cell (CL1000143)
Fold Change: 0.88
Marker Score: 254
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.88
Marker Score: 317
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5263
Cell Name: keratinocyte (CL0000312)
Fold Change: 0.85
Marker Score: 708
Cell Name: lymphocyte (CL0000542)
Fold Change: 0.84
Marker Score: 425
Cell Name: epithelial cell (CL0000066)
Fold Change: 0.84
Marker Score: 1331
Cell Name: tracheobronchial goblet cell (CL0019003)
Fold Change: 0.84
Marker Score: 229
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.82
Marker Score: 1737
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 0.82
Marker Score: 3162
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.82
Marker Score: 2194.5
Cell Name: acinar cell (CL0000622)
Fold Change: 0.82
Marker Score: 576
Cell Name: mucus secreting cell (CL0000319)
Fold Change: 0.81
Marker Score: 206
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.81
Marker Score: 618
Cell Name: precursor cell (CL0011115)
Fold Change: 0.81
Marker Score: 196
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 0.8
Marker Score: 6278.5
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 0.79
Marker Score: 799
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 0.78
Marker Score: 278
Cell Name: paneth cell (CL0000510)
Fold Change: 0.78
Marker Score: 540
Cell Name: club cell (CL0000158)
Fold Change: 0.77
Marker Score: 903
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.77
Marker Score: 460
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 0.75
Marker Score: 1066
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.75
Marker Score: 301
Cell Name: paneth cell of colon (CL0009009)
Fold Change: 0.75
Marker Score: 215
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 0.75
Marker Score: 741
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 386
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.73
Marker Score: 469
Cell Name: lactocyte (CL0002325)
Fold Change: 0.72
Marker Score: 11554
Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.72
Marker Score: 440
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 0.71
Marker Score: 3757
Cell Name: brush cell (CL0002204)
Fold Change: 0.71
Marker Score: 648
Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.71
Marker Score: 610
Cell Name: epithelial cell of prostate (CL0002231)
Fold Change: 0.7
Marker Score: 486
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.69
Marker Score: 2894.5
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 0.68
Marker Score: 1131
Cell Name: preosteoblast (CL0007010)
Fold Change: 0.68
Marker Score: 193
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 174
Cell Name: M cell of gut (CL0000682)
Fold Change: 0.67
Marker Score: 175
Cell Name: large intestine goblet cell (CL1000320)
Fold Change: 0.66
Marker Score: 175
Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 0.65
Marker Score: 282
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.65
Marker Score: 4863
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 0.65
Marker Score: 1323
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 0.65
Marker Score: 335
Cell Name: papillary tips cell (CL1000597)
Fold Change: 0.63
Marker Score: 128
Cell Name: eukaryotic cell (CL0000255)
Fold Change: 0.61
Marker Score: 316
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 0.61
Marker Score: 280
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.6
Marker Score: 118
Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.6
Marker Score: 224
Cell Name: serous secreting cell (CL0000313)
Fold Change: 0.6
Marker Score: 238

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**Key characteristics:** - GALT3 is a protein of the galactotransferase family. - It is a transmembrane protein with a molecular weight of approximately 160 kDa. - It is expressed in both soluble and membrane-bound form. - It is a highly conserved protein with a similar sequence in mammals and humans. **Pathways and functions:** - GALT3 is involved in the O-glycosylation of various proteins. - This modification is essential for the proper function of many proteins, including those involved in cell adhesion, signaling, and metabolism. - GALT3 is also involved in the regulation of epithelial cell migration and differentiation. **Clinical significance:** - Mutations in the GALNT3 gene have been linked to several diseases, including hereditary tyrosinemia, which is caused by a deficiency in the enzyme's activity. - GALT3 inhibitors are being investigated as potential treatments for these diseases. **Additional information:** - GALT3 is a key regulator of protein-protein interactions. - It is involved in the regulation of cell adhesion and migration. - It is also involved in the regulation of epithelial cell differentiation.

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.

Polypeptide N-acetylgalactosaminyltransferase 3

Genular Protein ID: 2693094369

Symbol: GALT3_HUMAN

Name: Polypeptide N-acetylgalactosaminyltransferase 3

UniProtKB Accession Codes:

Q14435 Q53TG9 Q7Z476

Database IDs:

Citations:

PubMed ID: 8663203

Title: cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine polypeptide N-acetylgalactosaminyltransferase, GalNAc-T3.

PubMed ID: 8663203

DOI: 10.1074/jbc.271.29.17006

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 9295285

Title: Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3.

PubMed ID: 9295285

DOI: 10.1074/jbc.272.38.23503

PubMed ID: 9394011

Title: Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus.

PubMed ID: 9394011

DOI: 10.1242/jcs.111.1.45

PubMed ID: 12708471

Title: Prognostic significance of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-3 (GalNAc-T3) expression in patients with gastric carcinoma.

PubMed ID: 12708471

DOI: 10.1111/j.1349-7006.2003.tb01348.x

PubMed ID: 15133511

Title: Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

PubMed ID: 15133511

DOI: 10.1038/ng1358

PubMed ID: 15599692

Title: Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders.

PubMed ID: 15599692

DOI: 10.1007/s00109-004-0610-8

PubMed ID: 16638743

Title: Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation.

PubMed ID: 16638743

DOI: 10.1074/jbc.m602469200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 31932717

Title: Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.

PubMed ID: 31932717

DOI: 10.1038/s41589-019-0444-x

Sequence Information:

Length: 633
Mass: 72610
Checksum: 3019B2DCCC19A584
Sequence:

MAHLKRLVKL HIKRHYHKKF WKLGAVIFFF IIVLVLMQRE VSVQYSKEES RMERNMKNKN 
KMLDLMLEAV NNIKDAMPKM QIGAPVRQNI DAGERPCLQG YYTAAELKPV LDRPPQDSNA 
PGASGKAFKT TNLSVEEQKE KERGEAKHCF NAFASDRISL HRDLGPDTRP PECIEQKFKR 
CPPLPTTSVI IVFHNEAWST LLRTVHSVLY SSPAILLKEI ILVDDASVDE YLHDKLDEYV 
KQFSIVKIVR QRERKGLITA RLLGATVATA ETLTFLDAHC ECFYGWLEPL LARIAENYTA 
VVSPDIASID LNTFEFNKPS PYGSNHNRGN FDWSLSFGWE SLPDHEKQRR KDETYPIKTP 
TFAGGLFSIS KEYFEYIGSY DEEMEIWGGE NIEMSFRVWQ CGGQLEIMPC SVVGHVFRSK 
SPHSFPKGTQ VIARNQVRLA EVWMDEYKEI FYRRNTDAAK IVKQKAFGDL SKRFEIKHRL 
QCKNFTWYLN NIYPEVYVPD LNPVISGYIK SVGQPLCLDV GENNQGGKPL IMYTCHGLGG 
NQYFEYSAQH EIRHNIQKEL CLHAAQGLVQ LKACTYKGHK TVVTGEQIWE IQKDQLLYNP 
FLKMCLSANG EHPSLVSCNP SDPLQKWILS QND

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.

Details for: GALNT3

Associated with

Cells (max top 100)

Other Information

cDNA cloning and expression of a novel human UDP-N-acetyl-alpha-D-galactosamine polypeptide N-acetylgalactosaminyltransferase, GalNAc-T3. PubMed ID: 8663203

Generation and annotation of the DNA sequences of human chromosomes 2 and 4. PubMed ID: 15815621

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

Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3. PubMed ID: 9295285

Localization of three human polypeptide GalNAc-transferases in HeLa cells suggests initiation of O-linked glycosylation throughout the Golgi apparatus. PubMed ID: 9394011

Prognostic significance of UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-3 (GalNAc-T3) expression in patients with gastric carcinoma. PubMed ID: 12708471

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. PubMed ID: 15133511

Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. PubMed ID: 15599692

Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. PubMed ID: 16638743

Initial characterization of the human central proteome. PubMed ID: 21269460

Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3. PubMed ID: 31932717