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Q01415 (GALK2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 139. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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:
N-acetylgalactosamine kinase

EC=2.7.1.157
Alternative name(s):
GalNAc kinase
Galactokinase 2
Gene names
Name:GALK2
Synonyms:GK2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length458 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates. Ref.7 Ref.9

Catalytic activity

ATP + N-acetyl-alpha-D-galactosamine = ADP + N-acetyl-alpha-D-galactosamine 1-phosphate.

Subunit structure

Monomer. Ref.9

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: Q01415-1)

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: Q01415-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MATESPATRRVQVAEHP → MPVLYD

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 458458N-acetylgalactosamine kinase
PRO_0000184647

Regions

Nucleotide binding139 – 14911ATP
Region49 – 524Substrate binding
Region187 – 1904Substrate binding

Sites

Active site1901Proton acceptor By similarity
Site431Transition state stabilizer By similarity

Natural variations

Alternative sequence1 – 1717MATES…VAEHP → MPVLYD in isoform 2.
VSP_042897
Natural variant1821I → V.
Corresponds to variant rs35507772 [ dbSNP | Ensembl ].
VAR_049123

Secondary structure

........................................................................ 458
Helix Strand Turn

Details...

Sequences

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

Last modified July 1, 1993. Version 1.
Checksum: 192B774938F32947

FASTA45850,378
        10         20         30         40         50         60 
MATESPATRR VQVAEHPRLL KLKEMFNSKF GSIPKFYVRA PGRVNIIGEH IDYCGYSVLP 

        70         80         90        100        110        120 
MAVEQDVLIA VEPVKTYALQ LANTNPLYPD FSTSANNIQI DKTKPLWHNY FLCGLKGIQE 

       130        140        150        160        170        180 
HFGLSNLTGM NCLVDGNIPP SSGLSSSSAL VCCAGLVTLT VLGRNLSKVE LAEICAKSER 

       190        200        210        220        230        240 
YIGTEGGGMD QSISFLAEEG TAKLIEFSPL RATDVKLPSG AVFVIANSCV EMNKAATSHF 

       250        260        270        280        290        300 
NIRVMECRLA AKLLAKYKSL QWDKVLRLEE VQAKLGISLE EMLLVTEDAL HPEPYNPEEI 

       310        320        330        340        350        360 
CRCLGISLEE LRTQILSPNT QDVLIFKLYQ RAKHVYSEAA RVLQFKKICE EAPENMVQLL 

       370        380        390        400        410        420 
GELMNQSHMS CRDMYECSCP ELDQLVDICR KFGAQGSRLT GAGWGGCTVS MVPADKLPSF 

       430        440        450 
LANVHKAYYQ RSDGSLAPEK QSLFATKPGG GALVLLEA 

« Hide

Isoform 2 [UniParc].

Checksum: 66D4925D605D1A4F
Show »

FASTA44749,235

References

« Hide 'large scale' references
[1]"Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast."
Lee R.T., Peterson C.L., Calman A.F., Herskowitz I., O'Donnell J.J.
Proc. Natl. Acad. Sci. U.S.A. 89:10887-10891(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]Guo J.H., Zan Q., Yu L.
Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"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 (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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: Placenta.
[6]"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.
[7]"Identification of the GalNAc kinase amino acid sequence."
Pastuszak I., O'Donnell J., Elbein A.D.
J. Biol. Chem. 271:23653-23656(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE FUNCTION.
[8]"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].
[9]"The molecular architecture of human N-acetylgalactosamine kinase."
Thoden J.B., Holden H.M.
J. Biol. Chem. 280:32784-32791(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) IN COMPLEX WITH GALNAC AND ATP, SUBUNIT, FUNCTION, SUBSTRATE-BINDING SITES.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M84443 mRNA. Translation: AAA58612.1.
AF461816 mRNA. Translation: AAP97708.1.
BT006901 mRNA. Translation: AAP35547.1.
AC013452 Genomic DNA. No translation available.
AC022306 Genomic DNA. No translation available.
AC036102 Genomic DNA. No translation available.
BC005141 mRNA. Translation: AAH05141.1.
CCDSCCDS32236.1. [Q01415-2]
CCDS42034.1. [Q01415-1]
PIRA46366.
RefSeqNP_001001556.1. NM_001001556.2. [Q01415-2]
NP_002035.1. NM_002044.3. [Q01415-1]
UniGeneHs.122006.
Hs.738080.
Hs.738534.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2A2CX-ray1.65A1-458[»]
2A2DX-ray2.20A1-458[»]
ProteinModelPortalQ01415.
SMRQ01415. Positions 2-458.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108858. 1 interaction.
MINTMINT-5004443.
STRING9606.ENSP00000379766.

PTM databases

PhosphoSiteQ01415.

Polymorphism databases

DMDM399518.

Proteomic databases

MaxQBQ01415.
PaxDbQ01415.
PRIDEQ01415.

Protocols and materials databases

DNASU2585.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000327171; ENSP00000316632; ENSG00000156958. [Q01415-2]
ENST00000560031; ENSP00000453129; ENSG00000156958. [Q01415-1]
GeneID2585.
KEGGhsa:2585.
UCSCuc001zxi.1. human. [Q01415-2]
uc001zxj.1. human. [Q01415-1]

Organism-specific databases

CTD2585.
GeneCardsGC15P049447.
HGNCHGNC:4119. GALK2.
HPAHPA043564.
HPA048267.
MIM137028. gene.
neXtProtNX_Q01415.
PharmGKBPA28534.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0153.
HOGENOMHOG000241099.
HOVERGENHBG051696.
KOK00849.
OMARRAGTWG.
PhylomeDBQ01415.
TreeFamTF324235.

Gene expression databases

ArrayExpressQ01415.
BgeeQ01415.
CleanExHS_GALK2.
GenevestigatorQ01415.

Family and domain databases

Gene3D3.30.230.10. 1 hit.
3.30.70.890. 2 hits.
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. 2 hits.
TIGRFAMsTIGR00131. gal_kin. 1 hit.
PROSITEPS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ01415.
GenomeRNAi2585.
NextBio10227.
PROQ01415.
SOURCESearch...

Entry information

Entry nameGALK2_HUMAN
AccessionPrimary (citable) accession number: Q01415
Secondary accession number(s): Q7Z4Q4
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: July 9, 2014
This is version 139 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

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 15

Human chromosome 15: entries, gene names and cross-references to MIM