GBGT1 (globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group))

2015-03-01  

Identity

HGNC
GBGT1
LOCATION
9q34.2
LOCUSID
26301
ALIAS
A3GALNT,FS,UNQ2513

Other Information

Locus ID:

NCBI: 26301
MIM: 606074
HGNC: 20460
Ensembl: ENSG00000148288

Variants:

dbSNP: 26301
ClinVar: 26301
TCGA: ENSG00000148288
COSMIC: GBGT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148288ENST00000372036Q5T7U8
ENSG00000148288ENST00000372038Q5T7V0
ENSG00000148288ENST00000372040Q8N5D6
ENSG00000148288ENST00000372040J7Q0Z1
ENSG00000148288ENST00000372043Q8N5D6
ENSG00000148288ENST00000470431J7PW20
ENSG00000148288ENST00000487864A0A2R8YGC1
ENSG00000148288ENST00000540636Q8N5D6
ENSG00000148288ENST00000644196Q5T7U8
ENSG00000148288ENST00000646215A0A2R8Y4A7

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Metabolic pathwaysKEGGhsa01100

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
298988782018Blood group ABO gene-encoded A transferase catalyzes the biosynthesis of FORS1 antigen of FORS system upon Met69Thr/Ser substitution.4
302775762018GBGT1 is allelically diverse but dispensable in humans and naturally occurring anti-FORS1 shows an ABO-restricted pattern.5
298988782018Blood group ABO gene-encoded A transferase catalyzes the biosynthesis of FORS1 antigen of FORS system upon Met69Thr/Ser substitution.4
302775762018GBGT1 is allelically diverse but dispensable in humans and naturally occurring anti-FORS1 shows an ABO-restricted pattern.5
252947022014Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells.7
252947022014Expression of GBGT1 is epigenetically regulated by DNA methylation in ovarian cancer cells.7
232555522013Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system.28
232555522013Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system.28
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14
208006032010Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.14

Citation

Dessen P

GBGT1 (globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group))

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55099/meetings/hgnc