SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P51570

- GALK1_HUMAN

UniProt

P51570 - GALK1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Galactokinase
Gene
GALK1, GALK
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Major enzyme for galactose metabolism.

Catalytic activityi

ATP + alpha-D-galactose = ADP + alpha-D-galactose 1-phosphate.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei37 – 371Transition state stabilizer Inferred
Active sitei186 – 1861Proton acceptor By similarity
Binding sitei236 – 2361Substrate

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi134 – 14411ATP
Add
BLAST

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. galactokinase activity Source: InterPro
  3. galactose binding Source: UniProtKB

GO - Biological processi

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

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Biological processi

Carbohydrate metabolism, Galactose metabolism

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_532. Galactose catabolism.
SABIO-RKP51570.
UniPathwayiUPA00214.

Names & Taxonomyi

Protein namesi
Recommended name:
Galactokinase (EC:2.7.1.6)
Alternative name(s):
Galactose kinase
Gene namesi
Name:GALK1
Synonyms:GALK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:4118. GALK1.

Subcellular locationi

GO - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Galactosemia II (GALCT2) [MIM:230200]: Autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281P → T in GALCT2; founder Romani mutation. 3 Publications
VAR_008514
Natural varianti32 – 321V → M in GALCT2. 3 Publications
VAR_002547
Natural varianti36 – 361G → R in GALCT2. 2 Publications
VAR_023486
Natural varianti44 – 441H → Y in GALCT2. 2 Publications
VAR_023487
Natural varianti68 – 681R → C in GALCT2. 2 Publications
VAR_023488
Natural varianti198 – 1981A → V in GALCT2; mild deficiency; Osaka. 2 Publications
Corresponds to variant rs80084721 [ dbSNP | Ensembl ].
VAR_015746
Natural varianti239 – 2391R → Q in GALCT2. 1 Publication
VAR_023490
Natural varianti288 – 2881T → M in GALCT2. 2 Publications
VAR_023492
Natural varianti346 – 3461G → S in GALCT2. 2 Publications
VAR_023494
Natural varianti349 – 3491G → S in GALCT2. 2 Publications
VAR_023495
Natural varianti384 – 3841A → P in GALCT2. 2 Publications
VAR_023496

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi230200. phenotype.
Orphaneti79237. Galactokinase deficiency.
PharmGKBiPA28533.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 392392Galactokinase
PRO_0000184645Add
BLAST

Proteomic databases

MaxQBiP51570.
PaxDbiP51570.
PRIDEiP51570.

2D gel databases

OGPiP51570.
REPRODUCTION-2DPAGEIPI00019383.

PTM databases

PhosphoSiteiP51570.

Expressioni

Gene expression databases

ArrayExpressiP51570.
BgeeiP51570.
CleanExiHS_GALK1.
GenevestigatoriP51570.

Organism-specific databases

HPAiHPA007094.
HPA016960.

Interactioni

Subunit structurei

Homodimer Inferred.1 Publication

Protein-protein interaction databases

BioGridi108857. 11 interactions.
IntActiP51570. 4 interactions.
MINTiMINT-4999410.
STRINGi9606.ENSP00000225614.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi9 – 2416
Beta strandi29 – 4113
Helixi46 – 483
Beta strandi51 – 6818
Beta strandi72 – 776
Beta strandi80 – 823
Beta strandi86 – 916
Helixi105 – 1073
Helixi108 – 1169
Beta strandi118 – 1203
Beta strandi124 – 1318
Beta strandi137 – 1393
Helixi141 – 15616
Helixi163 – 17614
Helixi185 – 1928
Beta strandi197 – 2026
Turni203 – 2053
Beta strandi208 – 2125
Beta strandi216 – 22813
Turni233 – 2353
Helixi236 – 24914
Helixi260 – 2634
Helixi266 – 2694
Helixi272 – 29625
Helixi300 – 31617
Helixi323 – 33311
Beta strandi338 – 3436
Beta strandi348 – 35710
Helixi358 – 3603
Helixi361 – 37111
Beta strandi377 – 3815
Beta strandi387 – 3893

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WUUX-ray2.50A/B/C/D2-392[»]
1YH7model-A1-392[»]
ProteinModelPortaliP51570.
SMRiP51570. Positions 2-392.

Miscellaneous databases

EvolutionaryTraceiP51570.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni43 – 464Substrate binding
Regioni183 – 1864Substrate binding

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0153.
HOGENOMiHOG000241100.
HOVERGENiHBG051695.
KOiK00849.
OrthoDBiEOG7K3TMV.
PhylomeDBiP51570.
TreeFamiTF354326.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProiIPR000705. Galactokinase.
IPR019741. Galactokinase_CS.
IPR019539. GalKase_gal-bd.
IPR013750. GHMP_kinase_C_dom.
IPR006204. GHMP_kinase_N_dom.
IPR006203. GHMP_knse_ATP-bd_CS.
IPR006206. Mevalonate/galactokinase.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PfamiPF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000530. Galactokinase. 1 hit.
PRINTSiPR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.
SUPFAMiSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsiTIGR00131. gal_kin. 1 hit.
PROSITEiPS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51570-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG    50
LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE 100
PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY 150
TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL 200
IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL 250
GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY 300
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG 350
CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL 392
Length:392
Mass (Da):42,272
Last modified:October 1, 1996 - v1
Checksum:i8D7CFF8FDB0E4718
GO
Isoform 2 (identifier: P51570-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCAPPRGAPPEHPAPTGLCRSSCAELQARVM

Note: No experimental confirmation available.

Show »
Length:422
Mass (Da):45,358
Checksum:i4ACD28D6352F019C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti28 – 281P → T in GALCT2; founder Romani mutation. 3 Publications
VAR_008514
Natural varianti32 – 321V → M in GALCT2. 3 Publications
VAR_002547
Natural varianti36 – 361G → R in GALCT2. 2 Publications
VAR_023486
Natural varianti44 – 441H → Y in GALCT2. 2 Publications
VAR_023487
Natural varianti68 – 681R → C in GALCT2. 2 Publications
VAR_023488
Natural varianti184 – 1841I → M.1 Publication
VAR_023489
Natural varianti198 – 1981A → V in GALCT2; mild deficiency; Osaka. 2 Publications
Corresponds to variant rs80084721 [ dbSNP | Ensembl ].
VAR_015746
Natural varianti239 – 2391R → Q in GALCT2. 1 Publication
VAR_023490
Natural varianti274 – 2741G → D.1 Publication
VAR_023491
Natural varianti288 – 2881T → M in GALCT2. 2 Publications
VAR_023492
Natural varianti338 – 3381V → A.1 Publication
VAR_023493
Natural varianti346 – 3461G → S in GALCT2. 2 Publications
VAR_023494
Natural varianti349 – 3491G → S in GALCT2. 2 Publications
VAR_023495
Natural varianti384 – 3841A → P in GALCT2. 2 Publications
VAR_023496

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MCAPPRGAPPEHPAPTGLCR SSCAELQARVM in isoform 2.
VSP_055079

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U26401 mRNA. Translation: AAA96147.1.
L76927 Genomic DNA. Translation: AAB51607.1.
AK303832 mRNA. Translation: BAG64778.1.
AK314890 mRNA. Translation: BAG37404.1.
BT007005 mRNA. Translation: AAP35651.1.
AC087749 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89316.1.
BC001166 mRNA. Translation: AAH01166.1.
CCDSiCCDS11728.1. [P51570-1]
RefSeqiNP_000145.1. NM_000154.1.
UniGeneiHs.407966.

Genome annotation databases

EnsembliENST00000225614; ENSP00000225614; ENSG00000108479.
ENST00000437911; ENSP00000406305; ENSG00000108479.
ENST00000588479; ENSP00000465930; ENSG00000108479.
GeneIDi2584.
KEGGihsa:2584.
UCSCiuc002jpk.3. human. [P51570-1]

Polymorphism databases

DMDMi1730187.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U26401 mRNA. Translation: AAA96147.1 .
L76927 Genomic DNA. Translation: AAB51607.1 .
AK303832 mRNA. Translation: BAG64778.1 .
AK314890 mRNA. Translation: BAG37404.1 .
BT007005 mRNA. Translation: AAP35651.1 .
AC087749 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89316.1 .
BC001166 mRNA. Translation: AAH01166.1 .
CCDSi CCDS11728.1. [P51570-1 ]
RefSeqi NP_000145.1. NM_000154.1.
UniGenei Hs.407966.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WUU X-ray 2.50 A/B/C/D 2-392 [» ]
1YH7 model - A 1-392 [» ]
ProteinModelPortali P51570.
SMRi P51570. Positions 2-392.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108857. 11 interactions.
IntActi P51570. 4 interactions.
MINTi MINT-4999410.
STRINGi 9606.ENSP00000225614.

Chemistry

ChEMBLi CHEMBL1293257.

PTM databases

PhosphoSitei P51570.

Polymorphism databases

DMDMi 1730187.

2D gel databases

OGPi P51570.
REPRODUCTION-2DPAGE IPI00019383.

Proteomic databases

MaxQBi P51570.
PaxDbi P51570.
PRIDEi P51570.

Protocols and materials databases

DNASUi 2584.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000225614 ; ENSP00000225614 ; ENSG00000108479 .
ENST00000437911 ; ENSP00000406305 ; ENSG00000108479 .
ENST00000588479 ; ENSP00000465930 ; ENSG00000108479 .
GeneIDi 2584.
KEGGi hsa:2584.
UCSCi uc002jpk.3. human. [P51570-1 ]

Organism-specific databases

CTDi 2584.
GeneCardsi GC17M073730.
HGNCi HGNC:4118. GALK1.
HPAi HPA007094.
HPA016960.
MIMi 230200. phenotype.
604313. gene.
neXtProti NX_P51570.
Orphaneti 79237. Galactokinase deficiency.
PharmGKBi PA28533.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0153.
HOGENOMi HOG000241100.
HOVERGENi HBG051695.
KOi K00849.
OrthoDBi EOG7K3TMV.
PhylomeDBi P51570.
TreeFami TF354326.

Enzyme and pathway databases

UniPathwayi UPA00214 .
Reactomei REACT_532. Galactose catabolism.
SABIO-RK P51570.

Miscellaneous databases

EvolutionaryTracei P51570.
GenomeRNAii 2584.
NextBioi 10223.
PROi P51570.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51570.
Bgeei P51570.
CleanExi HS_GALK1.
Genevestigatori P51570.

Family and domain databases

Gene3Di 3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProi IPR000705. Galactokinase.
IPR019741. Galactokinase_CS.
IPR019539. GalKase_gal-bd.
IPR013750. GHMP_kinase_C_dom.
IPR006204. GHMP_kinase_N_dom.
IPR006203. GHMP_knse_ATP-bd_CS.
IPR006206. Mevalonate/galactokinase.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view ]
Pfami PF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF000530. Galactokinase. 1 hit.
PRINTSi PR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.
SUPFAMi SSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsi TIGR00131. gal_kin. 1 hit.
PROSITEi PS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts."
    Stambolian D., Ai Y., Sidjanin D., Nesburn K., Sathe G., Rosenberg M., Bergsma D.J.
    Nat. Genet. 10:307-312(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT II GALACTOSEMIA MET-32.
  2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "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] (ISOFORMS 1 AND 2).
    Tissue: Lung.
  4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Brain.
  8. Lubec G., Chen W.-Q., Sun Y.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 6-17; 22-37; 70-97; 205-239; 257-267; 288-296 AND 343-388, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Fetal brain cortex.
  9. "Comparison of the enzymatic activities of human galactokinase GALK1 and a related human galactokinase protein GK2."
    Ai Y., Basu M., Bergsma D.J., Stambolian D.
    Biochem. Biophys. Res. Commun. 212:687-691(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Molecular structure of human galactokinase: implications for type II galactosemia."
    Thoden J.B., Timson D.J., Reece R.J., Holden H.M.
    J. Biol. Chem. 280:9662-9670(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 2-392 IN COMPLEX WITH D-GALACTOSE AND ATP ANALOG, SUBUNIT, SUBSTRATE-BINDING SITES.
  12. Cited for: VARIANT GALCT2 THR-28.
  13. Cited for: VARIANTS GALCT2 THR-28; ARG-36; TYR-44; SER-346 AND SER-349.
  14. "A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians."
    Okano Y., Asada M., Fujimoto A., Ohtake A., Murayama K., Hsiao K.-J., Choeh K., Yang Y., Cao Q., Reichardt J.K.V., Niihira S., Imamura T., Yamano T.
    Am. J. Hum. Genet. 68:1036-1042(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GALCT2 VAL-198.
  15. "Novel mutations in the GALK1 gene in patients with galactokinase deficiency."
    Hunter M., Angelicheva D., Levy H.L., Pueschel S.M., Kalaydjieva L.
    Hum. Mutat. 17:77-78(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT2 CYS-68; MET-288 AND PRO-384.
  16. "Functional analysis of disease-causing mutations in human galactokinase."
    Timson D.J., Reece R.J.
    Eur. J. Biochem. 270:1767-1774(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS GALCT2 THR-28; MET-32; ARG-36; TYR-44; CYS-68; VAL-198; MET-288; SER-346; SER-349 AND PRO-384.
  17. "Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population."
    Maraini G., Hejtmancik J.F., Shiels A., Mackay D.S., Aldigeri R., Jiao X.D., Williams S.L., Sperduto R.D., Reed G.
    Mol. Vis. 9:397-400(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MET-184; ASP-274 AND ALA-338.
  18. "Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency."
    Sangiuolo F., Magnani M., Stambolian D., Novelli G.
    Hum. Mutat. 23:396-396(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GALCT2 MET-32 AND GLN-239.

Entry informationi

Entry nameiGALK1_HUMAN
AccessioniPrimary (citable) accession number: P51570
Secondary accession number(s): B2RC07, B4E1G6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 3, 2014
This is version 147 of the entry and version 1 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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

Similar proteinsi