LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

2016-06-01 Affiliation

Identity

HGNC

LARGE1

LOCATION

22q12.3

LOCUSID

9215

ALIAS

LARGE,MDC1D,MDDGA6,MDDGB6

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9215
MIM: 603590
HGNC: 6511
Ensembl: ENSG00000133424

Variants:

dbSNP: 9215
ClinVar: 9215
TCGA: ENSG00000133424
COSMIC: LARGE1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000133424	ENST00000354992	O95461
ENSG00000133424	ENST00000354992	X5DR28
ENSG00000133424	ENST00000397394	O95461
ENSG00000133424	ENST00000397394	X5DR28
ENSG00000133424	ENST00000402320	O95461
ENSG00000133424	ENST00000413114	B0QYZ8
ENSG00000133424	ENST00000421768	B0QY08
ENSG00000133424	ENST00000423375	B0QZ00
ENSG00000133424	ENST00000430220	B0QZ02
ENSG00000133424	ENST00000432776	B0QZ01
ENSG00000133424	ENST00000434071	B0QYZ9
ENSG00000133424	ENST00000608642	B7ZB84
ENSG00000133424	ENST00000609799	B0QY11
ENSG00000133424	ENST00000610186	B7ZB85

Expression (GTEx)

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

Pathway	Source	External ID
Metabolic pathways	KEGG	hsa01100
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
O-linked glycosylation	REACTOME	R-HSA-5173105
Mannose type O-glycan biosynthesis	KEGG	ko00515
Mannose type O-glycan biosynthesis	KEGG	hsa00515

References

Pubmed ID	Year	Title	Citations
33588034	2021	Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.	1
34452470	2021	The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.	4
33588034	2021	Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.	1
34452470	2021	The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.	4
31054580	2019	Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.	7
31054580	2019	Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.	7
27636103	2017	Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.	27
27636103	2017	Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.	27
24629698	2014	Correlation of deregulated like-acetylglucosaminyl transferase and aberrant α-dystroglycan expression with human tongue cancer metastasis.	8
24709677	2014	Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.	16
25279697	2014	B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.	50
25279699	2014	The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.	62
24629698	2014	Correlation of deregulated like-acetylglucosaminyl transferase and aberrant α-dystroglycan expression with human tongue cancer metastasis.	8
24709677	2014	Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.	16
25279697	2014	B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.	50

Citation

Dessen P

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-06-01

Online version: http://atlasgeneticsoncology.org/gene/55802/js/gene-explorer/case-report-explorer/hgnc