GALM (galactose mutarotase)

2014-08-01  

Identity

HGNC
GALM
LOCATION
2p22.1
LOCUSID
130589
ALIAS
BLOCK25,GALAC4,GLAT,HEL-S-63p,IBD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 130589
MIM: 137030
HGNC: 24063
Ensembl: ENSG00000143891

Variants:

dbSNP: 130589
ClinVar: 130589
TCGA: ENSG00000143891
COSMIC: GALM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143891ENST00000272252Q96C23
ENSG00000143891ENST00000272252A0A384MDW6
ENSG00000143891ENST00000410063B8ZZ75
ENSG00000143891ENST00000434934H7C1B5
ENSG00000143891ENST00000444351H7C320

Expression (GTEx)

0
50
100
150
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
Glycolysis / GluconeogenesisKEGGko00010
Galactose metabolismKEGGko00052
Glycolysis / GluconeogenesisKEGGhsa00010
Galactose metabolismKEGGhsa00052
Metabolic pathwaysKEGGhsa01100
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGhsa_M00632
Galactose degradation, Leloir pathway, galactose => alpha-D-glucose-1PKEGGM00632

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
213397552011A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study.7
213397552011A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study.7
150264232004Molecular structure of human galactose mutarotase.10
150264232004Molecular structure of human galactose mutarotase.10
127538982003Identification and characterisation of human aldose 1-epimerase.9
127538982003Identification and characterisation of human aldose 1-epimerase.9
127538982003Identification and characterisation of human aldose 1-epimerase.9
127538982003Identification and characterisation of human aldose 1-epimerase.9

Citation

Dessen P

GALM (galactose mutarotase)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54322