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P51570 (GALK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 146. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Galactokinase

EC=2.7.1.6
Alternative name(s):
Galactose kinase
Gene names
Name:GALK1
Synonyms:GALK
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length392 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Major enzyme for galactose metabolism.

Catalytic activity

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

Pathway

Carbohydrate metabolism; galactose metabolism.

Subunit structure

Homodimer Probable. Ref.11

Involvement in disease

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. Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.18

Sequence similarities

Belongs to the GHMP kinase family. GalK subfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P51570-1)

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.
Isoform 2 (identifier: P51570-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCAPPRGAPPEHPAPTGLCRSSCAELQARVM
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 392392Galactokinase
PRO_0000184645

Regions

Nucleotide binding134 – 14411ATP
Region43 – 464Substrate binding
Region183 – 1864Substrate binding

Sites

Active site1861Proton acceptor By similarity
Binding site2361Substrate
Site371Transition state stabilizer Probable

Natural variations

Alternative sequence11M → MCAPPRGAPPEHPAPTGLCR SSCAELQARVM in isoform 2.
VSP_055079
Natural variant281P → T in GALCT2; founder Romani mutation. Ref.12 Ref.13 Ref.16
VAR_008514
Natural variant321V → M in GALCT2. Ref.1 Ref.16 Ref.18
VAR_002547
Natural variant361G → R in GALCT2. Ref.13 Ref.16
VAR_023486
Natural variant441H → Y in GALCT2. Ref.13 Ref.16
VAR_023487
Natural variant681R → C in GALCT2. Ref.15 Ref.16
VAR_023488
Natural variant1841I → M. Ref.17
VAR_023489
Natural variant1981A → V in GALCT2; mild deficiency; Osaka. Ref.14 Ref.16
Corresponds to variant rs80084721 [ dbSNP | Ensembl ].
VAR_015746
Natural variant2391R → Q in GALCT2. Ref.18
VAR_023490
Natural variant2741G → D. Ref.17
VAR_023491
Natural variant2881T → M in GALCT2. Ref.15 Ref.16
VAR_023492
Natural variant3381V → A. Ref.17
VAR_023493
Natural variant3461G → S in GALCT2. Ref.13 Ref.16
VAR_023494
Natural variant3491G → S in GALCT2. Ref.13 Ref.16
VAR_023495
Natural variant3841A → P in GALCT2. Ref.15 Ref.16
VAR_023496

Secondary structure

............................................................ 392
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 8D7CFF8FDB0E4718

FASTA39242,272
        10         20         30         40         50         60 
MAALRQPQVA ELLAEARRAF REEFGAEPEL AVSAPGRVNL IGEHTDYNQG LVLPMALELM 

        70         80         90        100        110        120 
TVLVGSPRKD GLVSLLTTSE GADEPQRLQF PLPTAQRSLE PGTPRWANYV KGVIQYYPAA 

       130        140        150        160        170        180 
PLPGFSAVVV SSVPLGGGLS SSASLEVATY TFLQQLCPDS GTIAARAQVC QQAEHSFAGM 

       190        200        210        220        230        240 
PCGIMDQFIS LMGQKGHALL IDCRSLETSL VPLSDPKLAV LITNSNVRHS LASSEYPVRR 

       250        260        270        280        290        300 
RQCEEVARAL GKESLREVQL EELEAARDLV SKEGFRRARH VVGEIRRTAQ AAAALRRGDY 

       310        320        330        340        350        360 
RAFGRLMVES HRSLRDDYEV SCPELDQLVE AALAVPGVYG SRMTGGGFGG CTVTLLEASA 

       370        380        390 
APHAMRHIQE HYGGTATFYL SQAADGAKVL CL 

« Hide

Isoform 2 [UniParc].

Checksum: 4ACD28D6352F019C
Show »

FASTA42245,358

References

« Hide 'large scale' references
[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]"Fine structure of the human galactokinase GALK1 gene."
Bergsma D.J., Ai Y., Skach W.R., Nesburn K., Anoia E., van Horn S., Stambolian D.
Genome Res. 6:980-985(1996) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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]"A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)."
Kalaydjieva L., Perez-Lezaun A., Angelicheva D., Onengut S., Dye D., Bosshard N.U., Jordanova A., Savov A., Yanakiev P., Kremensky I., Radeva B., Hallmayer J., Markov A., Nedkova V., Tournev I., Aneva L., Gitzelmann R.
Am. J. Hum. Genet. 65:1299-1307(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GALCT2 THR-28.
[13]"Novel mutations in 13 probands with galactokinase deficiency."
Kolosha V., Anoia E., de Cespedes C., Gitzelmann R., Shih L., Casco T., Saborio M., Trejos R., Buist N., Tedesco T., Skach W., Mitelmann O., Ledee D., Huang K., Stambolian D.
Hum. Mutat. 15:447-453(2000) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11728.1.
RefSeqNP_000145.1. NM_000154.1.
UniGeneHs.407966.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1WUUX-ray2.50A/B/C/D2-392[»]
1YH7model-A1-392[»]
ProteinModelPortalP51570.
SMRP51570. Positions 2-392.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108857. 11 interactions.
IntActP51570. 4 interactions.
MINTMINT-4999410.
STRING9606.ENSP00000225614.

Chemistry

ChEMBLCHEMBL1293257.

PTM databases

PhosphoSiteP51570.

Polymorphism databases

DMDM1730187.

2D gel databases

OGPP51570.
REPRODUCTION-2DPAGEIPI00019383.

Proteomic databases

MaxQBP51570.
PaxDbP51570.
PRIDEP51570.

Protocols and materials databases

DNASU2584.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225614; ENSP00000225614; ENSG00000108479.
ENST00000437911; ENSP00000406305; ENSG00000108479.
ENST00000588479; ENSP00000465930; ENSG00000108479.
GeneID2584.
KEGGhsa:2584.
UCSCuc002jpk.3. human.

Organism-specific databases

CTD2584.
GeneCardsGC17M073730.
HGNCHGNC:4118. GALK1.
HPAHPA007094.
HPA016960.
MIM230200. phenotype.
604313. gene.
neXtProtNX_P51570.
Orphanet79237. Galactokinase deficiency.
PharmGKBPA28533.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0153.
HOGENOMHOG000241100.
HOVERGENHBG051695.
KOK00849.
OrthoDBEOG7K3TMV.
PhylomeDBP51570.
TreeFamTF354326.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
SABIO-RKP51570.
UniPathwayUPA00214.

Gene expression databases

ArrayExpressP51570.
BgeeP51570.
CleanExHS_GALK1.
GenevestigatorP51570.

Family and domain databases

Gene3D3.30.230.10. 1 hit.
3.30.70.890. 1 hit.
InterProIPR000705. 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]
PfamPF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]
PIRSFPIRSF000530. Galactokinase. 1 hit.
PRINTSPR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.
SUPFAMSSF54211. SSF54211. 1 hit.
SSF55060. SSF55060. 1 hit.
TIGRFAMsTIGR00131. gal_kin. 1 hit.
PROSITEPS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP51570.
GenomeRNAi2584.
NextBio10223.
PROP51570.
SOURCESearch...

Entry information

Entry nameGALK1_HUMAN
AccessionPrimary (citable) accession number: P51570
Secondary accession number(s): B2RC07, B4E1G6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 146 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM