GALNT3 - polypeptide N-acetylgalactosaminyltransferase 3 Gene

Also Known as HHS; HFTC; HFTC1; GalNAc-T3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2591

About GALNT3

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:165,747,588-165,794,692 (from NCBI)

This gene has 9 transcripts (splice variants), 220 orthologues, 19 paralogues and is associated with 3 phenotypes. Broad expression in stomach (RPKM 20.1), colon (RPKM 15.8) and 19 other tissues.

Summary

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to Other family members, however the Enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

GALNT3 Products (1)

mRNA	Protein	Name
NM_004482.4	NP_004473.2	polypeptide N-acetylgalactosaminyltransferase 3

GALNT3 Protein Structure

Glycos_transf_2

Ricin_B_lectin

0
100
200
300
400
500
600
633 a.a.

Protein Preferred Names	Protein Names
polypeptide N-acetylgalactosaminyltransferase 3	GalNAc transferase 3

Recombinant GALNT3 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P70831	GALNT3 Protein, Human (HEK293, His)	Q14435-1 (Q38-D633)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
Hyperphosphatemia
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Calcinosis	Pathologic Calcification Pathologically Calcified Structure
Phosphorus Metabolism Disease	Phosphorus Metabolism Disorders Disorder Of Phosphorus Metabolism Phosphorus Disorder Phosphorus Metabolism Disorder
Conjunctival Deposit
Dental Pulp Calcification	Pulp Calcification Pulp Calcifications Pulpal Calcifications Dental Pulp Stone
Rickets	Vitamin D Deficiency Vitamin D Active Rickets Hypovitaminosis D Nutritional Rickets Vitamin D Deficiency Disease Vitamin-D Deficiency Rickets Vitamin D-Dependent Rickets Avitaminosis D Infantile Osteomalacia Juvenile Osteomalacia
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal Chondrodysplasia, Murk Jansen Type Jansen'S Metaphyseal Chondrodysplasia MCDJ Murk Jansen Type Metaphyseal Chondrodysplasia Jansen Type Metaphyseal Chondrodysplasia Jansen Disease Jansen Metaphyseal Chondrodysplasia Jansen Metaphyseal Dysostosis Metaphyseal Chondrodysplasia Murk Jansen Type Chondrodysplasia, Metaphyseal, Murk Jansen Type
Osteoglophonic Dysplasia	Osteoglophonic Dwarfism OGD Fairbank-Keats Syndrome Osteoglosphonic Dysplasia Dysplasia, Osteoglophonic
Hypophosphatemic Rickets, Autosomal Dominant	Autosomal Dominant Hypophosphatemic Rickets ADHR Autosomal Dominant Hypophosphatemia Vitamin D-Resistant Rickets, Autosomal Dominant Hypophosphatemia, Autosomal Dominant Autosomal Dominant Vitamin D-Resistant Rickets Rickets, Hypophosphatemic, Autosomal Dominant
Autosomal Recessive Hypophosphatemic Rickets	Arhr Hypophosphatemic Rickets, Autosomal Recessive Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets
Tumoral Calcinosis, Normophosphatemic, Familial	Normophosphatemic Familial Tumoral Calcinosis NFTC Tumoral Calcinosis, Familial, Normophosphatemic Calcinosis, Tumoral, With Normophosphatemia Familial Normophosphatemic Tumoral Calcinosis Tumoral Calcinosis With Normophosphatemia
Mineral Metabolism Disease	Mineral Metabolism Disorder Disorder Of Mineral Metabolism
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hereditary Hypophosphatemic Rickets With Hypercalciuria HHRH Hypophosphatemic Rickets With Hypercalciuria Hypercalciuric Rickets
Hypophosphatemic Rickets, X-Linked Dominant	X-Linked Hypophosphatemia Xlh Vitamin D-Resistant Rickets, X-Linked X-Linked Hypophosphatemic Rickets XLHR Hyp Hypophosphatemic Vitamin D-Resistant Rickets Hpdr X-Linked Dominant Hypophosphatemic Rickets Familial Hypophosphatemic Rickets Hypophosphatemia, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets Hypophosphatemic Rickets X-Linked Dominant X-Linked Vitamin D-Resistant Rickets Hypophophatemia, X-Linked Hypophophatemic Vitamin D-Resistant Rickets Hypophosphatemia X-Linked Vitamin D-Resistant Rickets X-Linked Vitamin D-Resistant Rickets Rickets, X-Linked Hypophosphatemic
Tn Polyagglutination Syndrome	Galactosyltransferase Deficiency Tn Syndrome TNPS Tn Polyagglutination Syndrome, Somatic
Hypervitaminosis D	Vitamin D Hyperalimentation
Dental Abscess
Angioid Streaks
Pulmonary Alveolar Microlithiasis	PULAM Pam
Enthesopathy	Rheumatism
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemic Nephrolithiasis/Osteoporosis 1 NPHLOP1 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
Schimmelpenning-Feuerstein-Mims Syndrome	Nevus Sebaceus Of Jadassohn Organoid Nevus Phakomatosis Linear Nevus Sebaceous Syndrome Sfm Syndrome Jadassohn Nevus Phakomatosis Jnp Schimmelpenning Syndrome Solomon Syndrome SFM Linear Sebaceous Nevus Syndrome Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic Nevus Sebaceus Syndrome Organoid Nevus Syndrome Schimmelpenning Feuerstein Mims Syndrome Sebaceous Nevus Syndrome, Linear Epidermal Nevus Syndrome, Formerly Sebaceous Nevus Syndrome Linear Linear Nevus Sebaceus Syndrome Epidermal Nevus Syndrome Ss Nevus Sebaceous
Mccune-Albright Syndrome	Mass Syndrome Polyostotic Fibrous Dysplasia MAS Fibrous Dysplasia Of Bone Albright Syndrome Mass Phenotype Overlap Connective Tissue Disease Mccune Albright Syndrome Osteitis Fibrosa Disseminata OCTD Albright'S Disease Pfd Pofd Albright'S Syndrome Mccune-Albright Syndrome, Somatic, Mosaic Albright'S Disease Of Bone Albright'S Syndrome With Precocious Puberty Albright-Mccune-Sternberg Syndrome Albright-Sternberg Syndrome Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty Gonadotropin-Independent Female-Limited Sexual Precocity Fibrous Dysplasia Polyostotic Fibrous Dysplasia, Polyostotic
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01317	B4GALNT3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS05257	GALNT3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20159	Galnt3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26663	Galnt3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GALNT3	RGD	RGD:1306443
Bos taurus	GALNT3	VGNC	VGNC:29232
Canis familiaris	GALNT3	VGNC	VGNC:41095
Mus musculus	GALNT3	MGD	MGI:894695
Felis catus	GALNT3	VGNC	VGNC:62451
Macaca mulatta	GALNT3	VGNC	VGNC:72873
Others	GALNT3	NCBI