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Protein

Galactokinase

Gene

GALK1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 stabilizerCurated
Active sitei186 – 1861Proton acceptorBy similarity
Binding sitei236 – 2361Substrate

Regions

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

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • galactokinase activity Source: UniProtKB
  • galactose binding Source: UniProtKB

GO - Biological processi

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

BRENDAi2.7.1.6. 2681.
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 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:4118. GALK1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Galactosemia II (GALCT2)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAutosomal 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.

See also OMIM:230200
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.

Polymorphism and mutation databases

BioMutaiGALK1.
DMDMi1730187.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 392392GalactokinasePRO_0000184645Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei230 – 2301Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP51570.
PRIDEiP51570.

2D gel databases

OGPiP51570.
REPRODUCTION-2DPAGEIPI00019383.

PTM databases

PhosphoSiteiP51570.

Expressioni

Gene expression databases

BgeeiP51570.
CleanExiHS_GALK1.
ExpressionAtlasiP51570. baseline and differential.
GenevestigatoriP51570.

Organism-specific databases

HPAiHPA007094.
HPA016960.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi108857. 14 interactions.
IntActiP51570. 6 interactions.
MINTiMINT-4999410.
STRINGi9606.ENSP00000225614.

Structurei

Secondary structure

1
392
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi9 – 2416Combined sources
Beta strandi29 – 4113Combined sources
Helixi46 – 483Combined sources
Beta strandi51 – 6818Combined sources
Beta strandi72 – 776Combined sources
Beta strandi80 – 823Combined sources
Beta strandi86 – 916Combined sources
Helixi105 – 1073Combined sources
Helixi108 – 1169Combined sources
Beta strandi118 – 1203Combined sources
Beta strandi124 – 1318Combined sources
Beta strandi137 – 1393Combined sources
Helixi141 – 15616Combined sources
Helixi163 – 17614Combined sources
Helixi185 – 1928Combined sources
Beta strandi197 – 2026Combined sources
Turni203 – 2053Combined sources
Beta strandi208 – 2125Combined sources
Beta strandi216 – 22813Combined sources
Turni233 – 2353Combined sources
Helixi236 – 24914Combined sources
Helixi260 – 2634Combined sources
Helixi266 – 2694Combined sources
Helixi272 – 29625Combined sources
Helixi300 – 31617Combined sources
Helixi323 – 33311Combined sources
Beta strandi338 – 3436Combined sources
Beta strandi348 – 35710Combined sources
Helixi358 – 3603Combined sources
Helixi361 – 37111Combined sources
Beta strandi377 – 3815Combined sources
Beta strandi387 – 3893Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiP51570.

Family & Domainsi

Region

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

Sequence similaritiesi

Belongs to the GHMP kinase family. GalK subfamily.Curated

Phylogenomic databases

eggNOGiCOG0153.
HOGENOMiHOG000241100.
HOVERGENiHBG051695.
InParanoidiP51570.
KOiK00849.
OMAiFANMPCG.
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. AlignAdd to basket

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

        10         20         30         40         50
MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG
60 70 80 90 100
LVLPMALELM TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE
110 120 130 140 150
PGTPRWANYV KGVIQYYPAA PLPGFSAVVV SSVPLGGGLS SSASLEVATY
160 170 180 190 200
TFLQQLCPDS GTIAARAQVC QQAEHSFAGM PCGIMDQFIS LMGQKGHALL
210 220 230 240 250
IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR RQCEEVARAL
260 270 280 290 300
GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY
310 320 330 340 350
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG
360 370 380 390
CTVTLLEASA APHAMRHIQE HYGGTATFYL SQAADGAKVL CL
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. 1 PublicationVSP_055079

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [P51570-1]
UniGeneiHs.407966.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [P51570-1]
UniGeneiHs.407966.

3D structure databases

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

Protein-protein interaction databases

BioGridi108857. 14 interactions.
IntActiP51570. 6 interactions.
MINTiMINT-4999410.
STRINGi9606.ENSP00000225614.

Chemistry

BindingDBiP51570.
ChEMBLiCHEMBL1293257.

PTM databases

PhosphoSiteiP51570.

Polymorphism and mutation databases

BioMutaiGALK1.
DMDMi1730187.

2D gel databases

OGPiP51570.
REPRODUCTION-2DPAGEIPI00019383.

Proteomic databases

PaxDbiP51570.
PRIDEiP51570.

Protocols and materials databases

DNASUi2584.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2584.
GeneCardsiGC17M073730.
HGNCiHGNC:4118. GALK1.
HPAiHPA007094.
HPA016960.
MIMi230200. phenotype.
604313. gene.
neXtProtiNX_P51570.
Orphaneti79237. Galactokinase deficiency.
PharmGKBiPA28533.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0153.
HOGENOMiHOG000241100.
HOVERGENiHBG051695.
InParanoidiP51570.
KOiK00849.
OMAiFANMPCG.
OrthoDBiEOG7K3TMV.
PhylomeDBiP51570.
TreeFamiTF354326.

Enzyme and pathway databases

UniPathwayiUPA00214.
BRENDAi2.7.1.6. 2681.
ReactomeiREACT_532. Galactose catabolism.
SABIO-RKP51570.

Miscellaneous databases

EvolutionaryTraceiP51570.
GenomeRNAii2584.
NextBioi10223.
PROiP51570.
SOURCEiSearch...

Gene expression databases

BgeeiP51570.
CleanExiHS_GALK1.
ExpressionAtlasiP51570. baseline and differential.
GenevestigatoriP51570.

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]
ProtoNetiSearch...

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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-230, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  12. "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.
  13. Cited for: VARIANT GALCT2 THR-28.
  14. Cited for: VARIANTS GALCT2 THR-28; ARG-36; TYR-44; SER-346 AND SER-349.
  15. "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.
  16. "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.
  17. "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.
  18. "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.
  19. "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: May 27, 2015
This is version 156 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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.