B3GAT1 - beta-1,3-glucuronyltransferase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27087

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B3GAT1 Protein Structure

Glyco_transf_43

Glyco_transf_43: Glycosyltransferase family 43 (105 - 316)

  • 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%, as determined by reducing SDS-PAGE.

B3GAT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84849 CD57 Antibody (YA4546) WB, FC, ELISA Human
HY-P84849A CD57 Antibody (YA4546)(PBS only) WB, FC, ELISA Human
HY-P84850 CD57 Antibody (YA4547) WB, FC, ELISA Human, Mouse, Rat, Monkey
HY-P84850A CD57 Antibody (YA4547)(PBS only) WB, FC, ELISA Human, Mouse, Rat, Monkey
HY-P84851 CD57 Antibody (YA4548) IHC-P, FC, ELISA Human
HY-P84851A CD57 Antibody (YA4548)(PBS only) IHC-P, FC, ELISA Human
HY-P84999 CD57 Antibody (YA4691) ELISA Human
HY-P86809 CD57 Antibody (YA6502) IHC-P, mIHC Human
HY-P86914 CD57 Antibody(YA6607) mIHC Human

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

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