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polypeptide N-acetylgalactosaminyltransferase 3

Summary

Gene Symbol

GALNT3

Aliases

GalNAc-T3
HFTC
HHS
polypeptide GalNAc transferase 3

Organism

Homo sapiens (human)

External Links

NCBI Gene

2591

GGDB ID

gg089

HGNC

4125

mRNA

NM_004482

map

2q24-q31

Protein

NP_004473

OMIM

601756

KEGG Gene ID

hsa:2591

PubChem

2591

Alliance of Genome Resources

HGNC:4125

Annotation

Keyword

Alternative splicing
Disease variant
Disulfide bond
Glycoprotein
Glycosyltransferase
Golgi apparatus
Lectin
Manganese
Metal-binding
Reference proteome
Signal-anchor
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q14435	Polypeptide GalNAc transferase 3 Protein-UDP acetylgalactosaminyltransferase 3 UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
protein O-linked glycosylation	IBA IDA IMP	17129170 8663203
fibroblast growth factor receptor signaling pathway	TAS
carbohydrate metabolic process	NAS	9592121
spermatogenesis	IEA
protein O-linked glycosylation via threonine	IDA	16638743 31932717 9295285

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

primary metabolic process [inference]

carbohydrate metabolic process

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organic substance metabolic process [inference]

carbohydrate metabolic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

peptidyl-threonine modification [inference]

protein O-linked glycosylation via threonine

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

reproductive process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

multicellular organismal reproductive process [inference]

gamete generation [inference]

male gamete generation [inference]

spermatogenesis

developmental process [inference]

developmental process involved in reproduction [inference]

spermatogenesis

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

transmembrane receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

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GO Term	Evidence Code	PMID
membrane	TAS	8663203
Golgi apparatus	IBA IDA	12506059
Golgi cisterna membrane	IEA
perinuclear region of cytoplasm	IDA	12506059
extracellular exosome	HDA	18570454

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

perinuclear region of cytoplasm

Displaying **all 4** entries
GO Term	Evidence Code	PMID
manganese ion binding	IDA	9295285
calcium ion binding	IDA	9295285
carbohydrate binding	IEA
polypeptide N-acetylgalactosaminyltransferase activity	IBA IDA IGI IMP TAS	17129170 31932717 8663203 9295285

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

hexosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

polypeptide N-acetylgalactosaminyltransferase activity

catalytic activity, acting on a protein [inference]

polypeptide N-acetylgalactosaminyltransferase activity

binding [inference]

carbohydrate binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000115339

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg089

Gene Symbol

GALNT3

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	NP_001015032	NM_001015032
Drosophila melanogaster	NP_725602	NM_166188
Caenorhabditis elegans	NP_499721	NM_067320
Mus musculus	NP_056551	NM_015736

KEGG BRITE Database

Orthology

K00710

Name

polypeptide N-acetylgalactosaminyltransferase [EC:2.4.1.41]

References

9295285

Rhea

RHEA:23956

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

RHEA:52424

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.41

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of **101** in total

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DO ID	Disease Name	Source
DOID:0014667	disease of metabolism	DisGeNET
DOID:0050459	hyperphosphatemia	DisGeNET
DOID:0050819	obsolete Matthew-Wood syndrome	DisGeNET
DOID:0050834	CHARGE syndrome	DisGeNET
DOID:0050865	tongue squamous cell carcinoma	DisGeNET
DOID:0050949	autosomal recessive hypophosphatemic rickets	DisGeNET
DOID:0070025	X-linked dyskeratosis congenita	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:0110698	hypotrichosis 1	DisGeNET DisGeNET
DOID:0110741	type 1 diabetes mellitus 2	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000121	Nephrocalcinosis
HP:0000679	Taurodontia
HP:0000843	Hyperparathyroidism
HP:0001102	Angioid streaks of the fundus
HP:0002905	Hyperphosphatemia
HP:0003072	Hypercalcemia
HP:0003155	Elevated circulating alkaline phosphatase concentration
HP:0003621	Juvenile onset
HP:0003761	Calcinosis

Displaying 1 entry
Disease ID	Disease Name
OMIM:211900	tumoral calcinosis, hyperphosphatemic, familial, 1

PubChem Disease

GHR Health Conditions

Hyperphosphatemic familial tumoral calcinosis

MedGen Diseases

Tumoral calcinosis, hyperphosphatemic, familial, 1

OMIM Phenotypes

TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1; HFTC1

KEGG Diseases

Familial tumoral calcinosis

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	35627	FB:FBgn0027558
Drosophila melanogaster	36717	FB:FBgn0034025
Petromyzon marinus	116938676		PETMA00718
Callorhinchus milii	103176360		CALMI10102
Latimeria chalumnae	102362958		LATCH08214
Lepisosteus oculatus	102695023		LEPOC03170
Danio rerio	100331984	ZFIN:ZDB-GENE-120313-1	DANRE45456
Astyanax mexicanus	103045087		ASTMX12062
Ictalurus punctatus	108266796		ICTPU30874
Electrophorus electricus	113580308		ELEEL25266

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements