B3GAT1 - beta-1,3-glucuronyltransferase 1 Gene

Homo sapiens

Also known as NK1; CD57; HNK1; LEU7; NK-1; GLCATP; GLCUATP

Gene ID: 27087 | Gene type: protein coding

About B3GAT1

Cytogenetic location: 11q25 Genomic coordinates (GRCh38): 11:134,378,504-134,412,242 (from NCBI)

This gene has 5 transcripts (splice variants), 281 orthologues and 2 paralogues. Biased expression in brain (RPKM 22.6), thyroid (RPKM 2.5) and 2 other tissues.

Summary

The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key Enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

B3GAT1 Products(3)

mRNA	Protein	Name
NM_001367973.1	NP_001354902.1	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 2
NM_018644.3	NP_061114.2	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1
NM_054025.3	NP_473366.1	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 isoform 1

B3GAT1 Protein Structure

Glyco_transf_43

0
100
200
300
334 a.a.

Protein Preferred Names

Protein Names

galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

LEU7 antigen

Recombinant B3GAT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70114	B3GAT1 Protein, Human (HEK293, His)	Q9P2W7 (H25-I334)	≥95%

Related Diseases

Diseases

Alias

Chronic Nk-Cell Lymphocytosis

Nk-Cell Large Granular Lymphocyte Lymphocytosis

Chronic Lymphoproliferative Disorder Of Nk-Cells

Epithelial Predominant Wilms' Tumor

Epithelial Predominant Kidney Adenosarcoma	Epithelial Predominant Renal Wilms Tumor
Epithelial Predominant Renal Wilms Tumour	Epithelial Predominant Wilms' Tumour

Metanephric Adenoma

Renal Adenoma

Renal Cell Adenoma

Spastic Paraplegia 32, Autosomal Recessive

SPG32	Autosomal Recessive Spastic Paraplegia Type 32
Hereditary Spastic Paraplegia 32	Autosomal Recessive Spastic Paraplegia 32
Spastic Paraplegia 32	Spastic Paraplegia-32

Hodgkin'S Lymphoma, Lymphocytic-Histiocytic Predominance

Hodgkin Disease	Hodgkin Lymphoma, Lymphocyte-Rich
Hodgkin Lymphoma, Lymphocytic-Histiocytic Predominance	Hodgkin'S Disease, Lymphocyte Predominance
Lymphocyte Rich Hodgkin'S Disease	Lymphocyte Rich Classical Hodgkin Lymphoma

Aggressive Nk-Cell Leukemia

Aggressive Nk-Cell Leukaemia	Large Granular Lymphocyte Leukemia, Nk-Cell Type
Natural Killer Cell Leukaemia	Natural Killer Cell Leukemia
Aggressive Nk Cell Leukemia	Ankl
Aggressive Natural Killer Cell Leukemia	Ankcl
Aggressive Nk-Cell Lymphoma	Nk-Cell Lgl Leukemia
Nk-Cell Large Granular Lymphocyte Leukemia	Abnormality Of The Ankles
Aggressive Natural Killer-Cell Leukemia	Leukemia, Large Granular Lymphocytic
Leukemia, Natural Killer Cell Large Granular Lymphocytic

Malignant Peripheral Nerve Sheath Tumor

Mpnst	Malignant Neurilemmoma
Neurofibrosarcoma	Malignant Neurofibroma
Malignant Schwannoma	Neurogenic Sarcoma
Schwannoma, Malignant	Malignant Neoplasm Of The Peripheral Nerve Sheath
Malignant Peripheral Nerve Sheath Tumors

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

Immunodeficiency 36

IMD36	Activated Phosphoinositide 3-Kinase Delta Syndrome 2
Immunodeficiency, Type 36

Epithelioid Neurofibroma

T-Cell Large Granular Lymphocyte Leukemia

Large Granular Lymphocytic Leukemia	Proliferation Of Large Granular Lymphocytes
T-Lgl	T-Cell Lgl Leukemia
Large Granular Lymphocytic Leukaemia	T-Cell Large Granular Lymphocyte Leukaemia
Large Cell Granular Lymphogenous Leukemia	T-Lgl Leukemia
Leukemia Lymphocytic Large Granular	Leukemia, Large Granular Lymphocytic

Nephrogenic Adenofibroma

Metanephric Adenofibroma

Immunodeficiency 14

Activated Pi3k-Delta Syndrome	Apds
Pasli Disease	Imd14
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation	P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Malignant Glandular Tumor Of Peripheral Nerve Sheath

Glandular Mpnst

Glandular Malignant Peripheral Nerve Sheath Tumor

Felty Syndrome

Felty'S Syndrome	Rheumatoid Arthritis With Splenoadenomegaly And Leukopenia
Familial Felty'S Syndrome	Rheumatoid Arthritis, Splenomegaly And Neutropenia
Splenomegaly-Neutropenia-Rheumatoid Arthritis Syndrome	Feltys Syndrome

Malignant Triton Tumor

Malignant Peripheral Nerve Sheath Neoplasm With Rhabdomyosarcoma	Malignant Triton Tumour
Mpnst With Rhabdomyoblastic Differentiation	Mpnst With Rhabdomyosarcoma
Mpnst With Rhabdomyosarcomatous Differentiation	Mtt
Malignant Peripheral Nerve Sheath Tumor With Rhabdomyosarcomatous Differenciation	Malignant Peripheral Nerve Sheath Tumor With Rhabdomyoblastic Differentiation

Lymphocytic Gastritis

Thymus Small Cell Carcinoma

Small Cell Carcinoma Of The Thymus

Thymic Small Cell Carcinoma

Compensatory Emphysema

Pure Red-Cell Aplasia

Pure Red Cell Aplasia	Primary Red Cell Aplasia
Red Cell Hypoplasia	Prca
Red-Cell Aplasia Pure	Red-Cell Aplasia, Pure

Hepatosplenic T-Cell Lymphoma

Doid:0081049

Nk Cell Deficiency

Kidney Benign Neoplasm

Renal And Ureteral Tumor

Benign Kidney Neoplasm

Human Cytomegalovirus Infection

Cytomegalovirus Infection

Cytomegalovirus Infections

Bronchiectasis 1

Pulmonary Artery Leiomyosarcoma

Leiomyosarcoma Of The Pulmonary Artery

Congenital Granular Cell Tumor

Adult Malignant Schwannoma

Adult Mpnst

Adult Neurofibrosarcoma

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma	Hereditary Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma, Sporadic	Papillary Renal Cell Adenocarcinoma
RCCP	RCCP1
Renal Cell Carcinoma, Papillary	Renal Cell Carcinoma, Papillary, 1, Familial And Somatic
Chromophil Carcinoma Of Kidney	Papillary Kidney Carcinoma
Sporadic Papillary Renal Cell Carcinoma	Chromophil Renal Cell Carcinoma
Papillary Renal Carcinoma, Malignant -	Papillary Renal Cell Carcinoma, Bilateral -
Papillary Renal Cell Carcinoma, Familial -	Papillary Renal Cell Carcinoma, Multiple -
Papillary Renal Cell Carcinoma, Sporadic -	Renal Adenocarcinoma
Chromophil Rcc	Hprcc
Renal Cell Carcinoma Papillary	Chromophilic Renal Cell Carcinoma
Prcc	Carcinoma, Renal Cell, Papillary, Type 1
Type 1 Papillary Renal Cell Carcinoma	Renal Cell Carcinoma
Hereditary Papillary Renal Carcinoma

Wilms Tumor 1

Nephroblastoma	Wilms Tumor
WT1	Wilms' Tumor
Bilateral Wilms Tumor	Wilms Tumor, Type 1
Wilms Tumor, Somatic	Adult Nephroblastoma
Wt1 Disorder	Renal Embryonic Tumor
Adult Kidney Wilms Tumor	Childhood Kidney Wilms Tumor
Nonanaplastic Kidney Wilms Tumor

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01307	B3GAT1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	B3GAT1	RGD	RGD:70880
Mus musculus	B3GAT1	MGD	MGI:1924148
Felis catus	B3GAT1	VGNC	VGNC:68962
Canis familiaris	B3GAT1	VGNC	VGNC:38337
Bos taurus	B3GAT1	VGNC	VGNC:26376
Macaca mulatta	B3GAT1	VGNC	VGNC:70207
Others	B3GAT1	NCBI

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