GALNTL5 (polypeptide N-acetylgalactosaminyltransferase like 5)

2014-11-01  

Identity

HGNC
GALNTL5
LOCATION
7q36.1
LOCUSID
168391
ALIAS
GALNACT19,GALNT15,GalNAc-T5L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 168391
MIM: 615133
HGNC: 21725
Ensembl: ENSG00000106648

Variants:

dbSNP: 168391
ClinVar: 168391
TCGA: ENSG00000106648
COSMIC: GALNTL5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106648ENST00000392800Q7Z4T8
ENSG00000106648ENST00000414073D3DX14
ENSG00000106648ENST00000416062Q7Z4T8
ENSG00000106648ENST00000416269D3DX14
ENSG00000106648ENST00000426341D3DX14
ENSG00000106648ENST00000431418Q7Z4T8
ENSG00000106648ENST00000448366Q7Z4T8
ENSG00000106648ENST00000616416Q7Z4T8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Mucin type O-glycan biosynthesisKEGGko00512
Mucin type O-glycan biosynthesisKEGGhsa00512
Metabolic pathwaysKEGGhsa01100
O-glycan biosynthesis, mucin type coreKEGGhsa_M00056
O-glycan biosynthesis, mucin type coreKEGGM00056
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid 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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
306285002020Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia.4
306285002020Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia.4

Citation

Dessen P

GALNTL5 (polypeptide N-acetylgalactosaminyltransferase like 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63691/css/js/lib/haematological-explorer/