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This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
GALM (Galactose Mutarotase) is a Protein Coding gene. Diseases associated with GALM include Galactosemia Iv and Disorder Of Galactose Metabolism. Among its related pathways are Galactose metabolism and Fructose metabolism. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and aldose 1-epimerase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004034 | aldose 1-epimerase activity | IEA,IDA | 12753898 |
GO:0016853 | isomerase activity | IEA | -- |
GO:0030246 | carbohydrate binding | IEA | -- |
GO:0042803 | NOT protein homodimerization activity | IDA | 12753898 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Galactose metabolism |
Glycogen metabolism
.01
|
|
2 | Glucose metabolism | ||
3 | Metabolism | ||
4 | Fructose metabolism | ||
5 | trehalose degradation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA,IDA | 12753898 |
GO:0006006 | glucose metabolic process | IBA,IDA | 12753898 |
GO:0006012 | galactose metabolic process | IEA,IDA | 12753898 |
GO:0019318 | hexose metabolic process | IEA | -- |
GO:0033499 | galactose catabolic process via UDP-galactose | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | Target | 0 | ||
alpha-D-quinovopyranose | Experimental | Pharma | Target | 0 | ||
alpha-D-Xylopyranose | Experimental | Pharma | Target | 0 | ||
Alpha-L-Arabinose | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
alpha-D-Glucose |
|
492-62-6 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GALM 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GALM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GALM 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Galm 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Galm 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GALM 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GALM 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GALM 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GALM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | galm 30 |
|
||
Str.19129 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | galm 30 31 |
|
OneToOne | |
Dr.18948 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004376 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10467 31 |
|
OneToMany | |
CG32445 31 |
|
OneToMany | |||
CG4988 31 |
|
OneToMany | |||
CG32444 31 |
|
OneToMany | |||
CG10996 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y19D10A.16 31 |
|
OneToMany | |
C01B4.6 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G17940 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os10g0155500 30 |
|
||
Os.20067 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs114440198 | - |
p.Gly142Arg |
|||
rs6741892 | - |
p.Asn190Tyr |
|||
VAR_083549 | - |
p.Arg267Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6790n54 | CNV | gain | 21841781 |
dgv6791n54 | CNV | gain | 21841781 |
esv2421335 | CNV | duplication | 20811451 |
esv24300 | CNV | loss | 19812545 |
esv2667436 | CNV | deletion | 23128226 |
esv2667715 | CNV | deletion | 23128226 |
esv2719950 | CNV | deletion | 23290073 |
esv2763640 | CNV | gain | 21179565 |
esv3575232 | CNV | gain | 25503493 |
esv3590419 | CNV | loss | 21293372 |
esv3590420 | CNV | loss | 21293372 |
esv3590421 | CNV | gain | 21293372 |
esv3891860 | CNV | loss | 25118596 |
nsv1114076 | CNV | deletion | 24896259 |
nsv1116372 | CNV | deletion | 24896259 |
nsv213847 | CNV | deletion | 16902084 |
nsv441752 | CNV | gain | 18776908 |
nsv512771 | CNV | insertion | 21212237 |
nsv518220 | CNV | gain | 19592680 |
nsv581485 | CNV | gain | 21841781 |
nsv581487 | CNV | gain | 21841781 |
nsv817751 | CNV | gain | 17921354 |
nsv819664 | CNV | loss | 19587683 |
nsv820974 | CNV | duplication | 20802225 |
nsv828975 | CNV | loss | 20364138 |
nsv828986 | CNV | loss | 20364138 |
nsv828997 | CNV | loss | 20364138 |
nsv961401 | CNV | duplication | 23825009 |
nsv9646 | CNV | loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
galactosemia iv |
|
|
disorder of galactose metabolism |
|
|
galactosemia i |
|
|
partial optic atrophy |
|
|
dirofilariasis |
|
|