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Q14376

- GALE_HUMAN

UniProt

Q14376 - GALE_HUMAN

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Protein

UDP-glucose 4-epimerase

Gene
GALE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine.

Catalytic activityi

UDP-alpha-D-glucose = UDP-alpha-D-galactose.

Cofactori

NAD.

Kineticsi

  1. KM=69 µM for UDP-galactose (at 37 degrees Celsius and pH 8.8)2 Publications

Vmax=1.22 mmol/min/mg enzyme with UDP-galactose as substrate

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei132 – 1321Substrate
Active sitei157 – 1571Proton acceptor

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi4 – 3532NADAdd
BLAST

GO - Molecular functioni

  1. coenzyme binding Source: InterPro
  2. protein homodimerization activity Source: UniProtKB
  3. UDP-glucose 4-epimerase activity Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. cellular metabolic process Source: InterPro
  3. galactose catabolic process Source: UniProtKB
  4. galactose metabolic process Source: Ensembl
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

Carbohydrate metabolism, Galactose metabolism

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS04117-MONOMER.
ReactomeiREACT_532. Galactose catabolism.
SABIO-RKQ14376.
UniPathwayiUPA00214.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-glucose 4-epimerase (EC:5.1.3.2)
Alternative name(s):
Galactowaldenase
UDP-galactose 4-epimerase
Gene namesi
Name:GALE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4116. GALE.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Epimerase-deficiency galactosemia (EDG) [MIM:230350]: Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development.
Note: The disease is caused by mutations affecting the gene represented in this entry.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251A → V in EDG. 1 Publication
VAR_037733
Natural varianti34 – 341N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 Publications
VAR_002539
Natural varianti40 – 401R → C in EDG. 1 Publication
Corresponds to variant rs144492228 [ dbSNP | Ensembl ].
VAR_037734
Natural varianti69 – 691D → E in EDG. 1 Publication
VAR_037735
Natural varianti90 – 901G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 Publications
Corresponds to variant rs28940882 [ dbSNP | Ensembl ].
VAR_002540
Natural varianti94 – 941V → M in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine. 5 Publications
VAR_010058
Natural varianti103 – 1031D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs28940883 [ dbSNP | Ensembl ].
VAR_002541
Natural varianti165 – 1651E → K in EDG. 1 Publication
VAR_037736
Natural varianti169 – 1691R → W in EDG. 1 Publication
VAR_037737
Natural varianti183 – 1831L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 Publications
VAR_002543
Natural varianti239 – 2391R → W in EDG. 1 Publication
VAR_037738
Natural varianti257 – 2571K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 Publications
Corresponds to variant rs28940884 [ dbSNP | Ensembl ].
VAR_002544
Natural varianti302 – 3021G → D in EDG. 1 Publication
VAR_037739
Natural varianti313 – 3131L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs3180383 [ dbSNP | Ensembl ].
VAR_002545
Natural varianti319 – 3191G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation; may be a polymorphism. 4 Publications
Corresponds to variant rs28940885 [ dbSNP | Ensembl ].
VAR_002546
Natural varianti335 – 3351R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 Publications
VAR_037740

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi132 – 1321S → A: Loss of activity. 1 Publication
Mutagenesisi157 – 1571Y → F: Loss of activity. 1 Publication
Mutagenesisi307 – 3071C → Y: No effect on activity towards UDP-galactose. Loss of activity towards UDP-N-acetylgalactosamine. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi230350. phenotype.
Orphaneti308473. Erythrocyte galactose epimerase deficiency.
308487. Generalized galactose epimerase deficiency.
PharmGKBiPA28531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348UDP-glucose 4-epimerasePRO_0000183189Add
BLAST

Proteomic databases

MaxQBiQ14376.
PaxDbiQ14376.
PRIDEiQ14376.

PTM databases

PhosphoSiteiQ14376.

Expressioni

Gene expression databases

ArrayExpressiQ14376.
BgeeiQ14376.
CleanExiHS_GALE.
GenevestigatoriQ14376.

Organism-specific databases

HPAiHPA007340.

Interactioni

Subunit structurei

Homodimer.2 Publications

Protein-protein interaction databases

BioGridi108855. 5 interactions.
IntActiQ14376. 2 interactions.
MINTiMINT-5001272.
STRINGi9606.ENSP00000313026.

Structurei

Secondary structure

1
348
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi3 – 86
Turni9 – 113
Helixi13 – 2412
Beta strandi29 – 335
Beta strandi35 – 384
Beta strandi42 – 465
Helixi47 – 5610
Beta strandi61 – 644
Helixi70 – 7910
Beta strandi82 – 876
Helixi94 – 996
Helixi101 – 12121
Beta strandi126 – 1327
Helixi133 – 1364
Beta strandi140 – 1445
Helixi156 – 17419
Beta strandi179 – 1857
Beta strandi187 – 1893
Beta strandi195 – 1973
Beta strandi202 – 2043
Helixi208 – 2169
Beta strandi219 – 2213
Beta strandi223 – 2264
Beta strandi230 – 2367
Beta strandi241 – 2433
Helixi244 – 25815
Turni259 – 2613
Beta strandi264 – 2696
Helixi277 – 28812
Beta strandi294 – 2974
Beta strandi305 – 3073
Helixi312 – 3165
Helixi326 – 33914

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1EK5X-ray1.80A1-348[»]
1EK6X-ray1.50A/B1-348[»]
1HZJX-ray1.50A/B1-348[»]
1I3KX-ray1.50A/B1-348[»]
1I3LX-ray1.50A/B1-348[»]
1I3MX-ray1.50A/B1-348[»]
1I3NX-ray1.50A/B1-348[»]
ProteinModelPortaliQ14376.
SMRiQ14376. Positions 1-346.

Miscellaneous databases

EvolutionaryTraceiQ14376.

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG1087.
HOGENOMiHOG000168001.
HOVERGENiHBG001396.
InParanoidiQ14376.
KOiK01784.
OMAiFVAVIHF.
OrthoDBiEOG77T14P.
PhylomeDBiQ14376.
TreeFamiTF105800.

Family and domain databases

Gene3Di3.40.50.720. 2 hits.
InterProiIPR025308. Epimerase_C.
IPR001509. Epimerase_deHydtase.
IPR005886. GalE.
IPR016040. NAD(P)-bd_dom.
IPR008089. Nuc_sugar_epim.
[Graphical view]
PANTHERiPTHR10366:SF39. PTHR10366:SF39. 1 hit.
PfamiPF01370. Epimerase. 1 hit.
PF13950. Epimerase_Csub. 1 hit.
[Graphical view]
PRINTSiPR01713. NUCEPIMERASE.
TIGRFAMsiTIGR01179. galE. 1 hit.

Sequencei

Sequence statusi: Complete.

Q14376-1 [UniParc]FASTAAdd to Basket

« Hide

MAEKVLVTGG AGYIGSHTVL ELLEAGYLPV VIDNFHNAFR GGGSLPESLR    50
RVQELTGRSV EFEEMDILDQ GALQRLFKKY SFMAVIHFAG LKAVGESVQK 100
PLDYYRVNLT GTIQLLEIMK AHGVKNLVFS SSATVYGNPQ YLPLDEAHPT 150
GGCTNPYGKS KFFIEEMIRD LCQADKTWNA VLLRYFNPTG AHASGCIGED 200
PQGIPNNLMP YVSQVAIGRR EALNVFGNDY DTEDGTGVRD YIHVVDLAKG 250
HIAALRKLKE QCGCRIYNLG TGTGYSVLQM VQAMEKASGK KIPYKVVARR 300
EGDVAACYAN PSLAQEELGW TAALGLDRMC EDLWRWQKQN PSGFGTQA 348
Length:348
Mass (Da):38,282
Last modified:May 10, 2005 - v2
Checksum:i06FDBF9B1943DF49
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251A → V in EDG. 1 Publication
VAR_037733
Natural varianti34 – 341N → S in EDG; peripheral; nearly normal activity towards UDP-galactose. 3 Publications
VAR_002539
Natural varianti40 – 401R → C in EDG. 1 Publication
Corresponds to variant rs144492228 [ dbSNP | Ensembl ].
VAR_037734
Natural varianti69 – 691D → E in EDG. 1 Publication
VAR_037735
Natural varianti90 – 901G → E in EDG; 800-fold decrease in UDP-galactose epimerization activity. 4 Publications
Corresponds to variant rs28940882 [ dbSNP | Ensembl ].
VAR_002540
Natural varianti94 – 941V → M in EDG; generalized; 30-fold decrease in UDP-galactose epimerization activity; 2-fold decrease in affinity for UDP-galactose; 24% of normal activity with respect to UDP-N-acetylgalactosamine. 5 Publications
VAR_010058
Natural varianti103 – 1031D → G in EDG; 7-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs28940883 [ dbSNP | Ensembl ].
VAR_002541
Natural varianti165 – 1651E → K in EDG. 1 Publication
VAR_037736
Natural varianti169 – 1691R → W in EDG. 1 Publication
VAR_037737
Natural varianti180 – 1801A → V.2 Publications
Corresponds to variant rs3204468 [ dbSNP | Ensembl ].
VAR_002542
Natural varianti183 – 1831L → P in EDG; peripheral; 3-fold decrease in UDP-galactose epimerization activity. 3 Publications
VAR_002543
Natural varianti239 – 2391R → W in EDG. 1 Publication
VAR_037738
Natural varianti257 – 2571K → R in EDG; 7-fold decrease in UDP-galactose epimerization activity; does not affect affinity for UDP-galactose. 4 Publications
Corresponds to variant rs28940884 [ dbSNP | Ensembl ].
VAR_002544
Natural varianti302 – 3021G → D in EDG. 1 Publication
VAR_037739
Natural varianti313 – 3131L → M in EDG; 6-fold decrease in UDP-galactose epimerization activity; very mild decrease in activity towards UDP-N-acetylgalactosamine. 4 Publications
Corresponds to variant rs3180383 [ dbSNP | Ensembl ].
VAR_002545
Natural varianti319 – 3191G → E in EDG; nearly normal activity towards UDP-galactose; mild impairment under conditions of substrate limitation; may be a polymorphism. 4 Publications
Corresponds to variant rs28940885 [ dbSNP | Ensembl ].
VAR_002546
Natural varianti335 – 3351R → H in EDG; 2-fold decrease in UDP-galactose epimerization activity. 3 Publications
VAR_037740

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L41668 mRNA. Translation: AAB86498.1.
AF022382 Genomic DNA. Translation: AAC39645.1.
DQ233667 Genomic DNA. Translation: ABB04109.1.
DQ233668 mRNA. Translation: ABB04110.1.
AK314397 mRNA. Translation: BAG37021.1.
AL031295 Genomic DNA. Translation: CAB40159.1.
BC001273 mRNA. Translation: AAH01273.1.
BC050685 mRNA. Translation: AAH50685.2.
CCDSiCCDS242.1.
RefSeqiNP_000394.2. NM_000403.3.
NP_001008217.1. NM_001008216.1.
NP_001121093.1. NM_001127621.1.
UniGeneiHs.632380.

Genome annotation databases

EnsembliENST00000374497; ENSP00000363621; ENSG00000117308.
GeneIDi2582.
KEGGihsa:2582.
UCSCiuc001bhv.1. human.

Polymorphism databases

DMDMi68056598.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L41668 mRNA. Translation: AAB86498.1 .
AF022382 Genomic DNA. Translation: AAC39645.1 .
DQ233667 Genomic DNA. Translation: ABB04109.1 .
DQ233668 mRNA. Translation: ABB04110.1 .
AK314397 mRNA. Translation: BAG37021.1 .
AL031295 Genomic DNA. Translation: CAB40159.1 .
BC001273 mRNA. Translation: AAH01273.1 .
BC050685 mRNA. Translation: AAH50685.2 .
CCDSi CCDS242.1.
RefSeqi NP_000394.2. NM_000403.3.
NP_001008217.1. NM_001008216.1.
NP_001121093.1. NM_001127621.1.
UniGenei Hs.632380.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1EK5 X-ray 1.80 A 1-348 [» ]
1EK6 X-ray 1.50 A/B 1-348 [» ]
1HZJ X-ray 1.50 A/B 1-348 [» ]
1I3K X-ray 1.50 A/B 1-348 [» ]
1I3L X-ray 1.50 A/B 1-348 [» ]
1I3M X-ray 1.50 A/B 1-348 [» ]
1I3N X-ray 1.50 A/B 1-348 [» ]
ProteinModelPortali Q14376.
SMRi Q14376. Positions 1-346.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108855. 5 interactions.
IntActi Q14376. 2 interactions.
MINTi MINT-5001272.
STRINGi 9606.ENSP00000313026.

Chemistry

BindingDBi Q14376.
ChEMBLi CHEMBL5843.

PTM databases

PhosphoSitei Q14376.

Polymorphism databases

DMDMi 68056598.

Proteomic databases

MaxQBi Q14376.
PaxDbi Q14376.
PRIDEi Q14376.

Protocols and materials databases

DNASUi 2582.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000374497 ; ENSP00000363621 ; ENSG00000117308 .
GeneIDi 2582.
KEGGi hsa:2582.
UCSCi uc001bhv.1. human.

Organism-specific databases

CTDi 2582.
GeneCardsi GC01M024122.
GeneReviewsi GALE.
HGNCi HGNC:4116. GALE.
HPAi HPA007340.
MIMi 230350. phenotype.
606953. gene.
neXtProti NX_Q14376.
Orphaneti 308473. Erythrocyte galactose epimerase deficiency.
308487. Generalized galactose epimerase deficiency.
PharmGKBi PA28531.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1087.
HOGENOMi HOG000168001.
HOVERGENi HBG001396.
InParanoidi Q14376.
KOi K01784.
OMAi FVAVIHF.
OrthoDBi EOG77T14P.
PhylomeDBi Q14376.
TreeFami TF105800.

Enzyme and pathway databases

UniPathwayi UPA00214 .
BioCyci MetaCyc:HS04117-MONOMER.
Reactomei REACT_532. Galactose catabolism.
SABIO-RK Q14376.

Miscellaneous databases

EvolutionaryTracei Q14376.
GenomeRNAii 2582.
NextBioi 10213.
PROi Q14376.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14376.
Bgeei Q14376.
CleanExi HS_GALE.
Genevestigatori Q14376.

Family and domain databases

Gene3Di 3.40.50.720. 2 hits.
InterProi IPR025308. Epimerase_C.
IPR001509. Epimerase_deHydtase.
IPR005886. GalE.
IPR016040. NAD(P)-bd_dom.
IPR008089. Nuc_sugar_epim.
[Graphical view ]
PANTHERi PTHR10366:SF39. PTHR10366:SF39. 1 hit.
Pfami PF01370. Epimerase. 1 hit.
PF13950. Epimerase_Csub. 1 hit.
[Graphical view ]
PRINTSi PR01713. NUCEPIMERASE.
TIGRFAMsi TIGR01179. galE. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4'-epimerase."
    Daude N., Gallaher T.K., Zeschnigk M., Starzinski-Powitz A., Petry K.G., Haworth I.S., Reichardt J.K.V.
    Biochem. Mol. Med. 56:1-7(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-180.
  2. "Human UDP-galactose 4'epimerase (GALE) gene and identification of five missense mutations in patients with epimerase deficiency galactosemia."
    Maceratesi P., Daude N., Dallapiccola B., Novelli G., Allen R., Okano Y., Reichardt J.K.V.
    Mol. Genet. Metab. 63:26-30(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS EDG GLU-90; GLY-103; ARG-257; MET-313 AND GLU-319.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Colon.
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cervix and Skin.
  7. "Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase."
    Schulz J.M., Watson A.L., Sanders R., Ross K.L., Thoden J.B., Holden H.M., Fridovich-Keil J.L.
    J. Biol. Chem. 279:32796-32803(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF SER-132; TYR-157 AND CYS-307.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "Crystallographic evidence for Tyr 157 functioning as the active site Proton acceptor in human UDP-galactose 4-epimerase."
    Thoden J.B., Wohlers T.M., Fridovich-Keil J.L., Holden H.M.
    Biochemistry 39:5691-5701(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) IN COMPLEX WITH NAD AND SUBSTRATE, SUBUNIT.
  10. "Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase."
    Thoden J.B., Wohlers T.M., Fridovich-Keil J.L., Holden H.M.
    J. Biol. Chem. 276:20617-20623(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF VARIANT EDG MET-94.
  11. "Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase."
    Quimby B.B., Alano A., Almashanu S., Desandro A.M., Cowan T.M., Fridovich-Keil J.L.
    Am. J. Hum. Genet. 61:590-598(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EDG SER-34 AND PRO-183, VARIANT VAL-180.
  12. "Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia."
    Wohlers T.M., Christacos N.C., Harreman M.T., Fridovich-Keil J.L.
    Am. J. Hum. Genet. 64:462-470(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EDG MET-94, CHARACTERIZATION OF VARIANTS EDG GLU-90; MET-94; GLY-103 AND MET-313.
  13. "Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia."
    Wohlers T.M., Fridovich-Keil J.L.
    J. Inherit. Metab. Dis. 23:713-729(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANT MET-94.
  14. "A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia."
    Henderson J.M., Huguenin S.M., Cowan T.M., Fridovich-Keil J.L.
    Clin. Genet. 60:350-355(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EDG SER-34; GLU-90; MET-94; GLY-103; PRO-183; ARG-257; MET-313; GLU-319 AND HIS-335.
  15. "Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase."
    Timson D.J.
    FEBS J. 272:6170-6177(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANTS EDG SER-34; GLU-90; MET-94; GLY-103; PRO-183; ARG-257; MET-313; GLU-319 AND HIS-335, SUBUNIT.
  16. "The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients."
    Park H.-D., Park K.U., Kim J.Q., Shin C.H., Yang S.W., Lee D.H., Song Y.-H., Song J.
    Genet. Med. 7:646-649(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EDG VAL-25; CYS-40; GLU-69; LYS-165; TRP-169; TRP-239; ASP-302 AND HIS-335.
  17. "Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia."
    Wasilenko J., Lucas M.E., Thoden J.B., Holden H.M., Fridovich-Keil J.L.
    Mol. Genet. Metab. 84:32-38(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS EDG ARG-257 AND GLU-319.

Entry informationi

Entry nameiGALE_HUMAN
AccessioniPrimary (citable) accession number: Q14376
Secondary accession number(s): Q38G75
, Q86W41, Q9BVE3, Q9UJB4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 10, 2005
Last modified: September 3, 2014
This is version 152 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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