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Q01415

- GALK2_HUMAN

UniProt

Q01415 - GALK2_HUMAN

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Protein

N-acetylgalactosamine kinase

Gene

GALK2

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

Functioni

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.1 Publication

Catalytic activityi

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei43 – 431Transition state stabilizerBy similarity
Active sitei190 – 1901Proton acceptorBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi139 – 14911ATP1 PublicationAdd
BLAST

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. galactokinase activity Source: UniProtKB
  3. N-acetylgalactosamine kinase activity Source: UniProtKB-EC

GO - Biological processi

  1. carbohydrate metabolic process Source: ProtInc
  2. galactose metabolic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylgalactosamine kinase (EC:2.7.1.157)
Alternative name(s):
GalNAc kinase
Galactokinase 2
Gene namesi
Name:GALK2
Synonyms:GK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:4119. GALK2.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA28534.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 458458N-acetylgalactosamine kinasePRO_0000184647Add
BLAST

Proteomic databases

MaxQBiQ01415.
PaxDbiQ01415.
PRIDEiQ01415.

PTM databases

PhosphoSiteiQ01415.

Expressioni

Gene expression databases

BgeeiQ01415.
CleanExiHS_GALK2.
ExpressionAtlasiQ01415. baseline and differential.
GenevestigatoriQ01415.

Organism-specific databases

HPAiHPA043564.
HPA048267.

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi108858. 1 interaction.
MINTiMINT-5004443.
STRINGi9606.ENSP00000379766.

Structurei

Secondary structure

1
458
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi8 – 114
Helixi13 – 153
Helixi17 – 3014
Beta strandi35 – 4713
Helixi52 – 543
Beta strandi58 – 7316
Beta strandi75 – 773
Beta strandi79 – 857
Beta strandi91 – 933
Beta strandi102 – 1043
Helixi107 – 12115
Beta strandi130 – 1367
Beta strandi142 – 1443
Helixi146 – 16217
Helixi168 – 17912
Helixi180 – 1823
Helixi189 – 1968
Beta strandi201 – 2066
Turni207 – 2104
Beta strandi211 – 2155
Beta strandi221 – 2277
Helixi234 – 2363
Helixi239 – 25719
Turni262 – 2643
Helixi268 – 2758
Helixi279 – 28911
Helixi297 – 3048
Helixi308 – 3147
Helixi318 – 3203
Helixi328 – 35124
Helixi356 – 37318
Helixi380 – 39112
Beta strandi395 – 3995
Beta strandi404 – 41310
Helixi414 – 4163
Helixi417 – 42913
Beta strandi442 – 4465
Beta strandi453 – 4575

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2A2CX-ray1.65A1-458[»]
2A2DX-ray2.20A1-458[»]
ProteinModelPortaliQ01415.
SMRiQ01415. Positions 2-458.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ01415.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni49 – 524Substrate binding
Regioni187 – 1904Substrate binding

Sequence similaritiesi

Belongs to the GHMP kinase family. GalK subfamily.Curated

Phylogenomic databases

eggNOGiCOG0153.
GeneTreeiENSGT00530000063433.
HOGENOMiHOG000241099.
HOVERGENiHBG051696.
InParanoidiQ01415.
KOiK00849.
OMAiRRAGTWG.
PhylomeDBiQ01415.
TreeFamiTF324235.

Family and domain databases

Gene3Di3.30.230.10. 1 hit.
3.30.70.890. 2 hits.
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. 2 hits.
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: Q01415-1) [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
MATESPATRR VQVAEHPRLL KLKEMFNSKF GSIPKFYVRA PGRVNIIGEH
60 70 80 90 100
IDYCGYSVLP MAVEQDVLIA VEPVKTYALQ LANTNPLYPD FSTSANNIQI
110 120 130 140 150
DKTKPLWHNY FLCGLKGIQE HFGLSNLTGM NCLVDGNIPP SSGLSSSSAL
160 170 180 190 200
VCCAGLVTLT VLGRNLSKVE LAEICAKSER YIGTEGGGMD QSISFLAEEG
210 220 230 240 250
TAKLIEFSPL RATDVKLPSG AVFVIANSCV EMNKAATSHF NIRVMECRLA
260 270 280 290 300
AKLLAKYKSL QWDKVLRLEE VQAKLGISLE EMLLVTEDAL HPEPYNPEEI
310 320 330 340 350
CRCLGISLEE LRTQILSPNT QDVLIFKLYQ RAKHVYSEAA RVLQFKKICE
360 370 380 390 400
EAPENMVQLL GELMNQSHMS CRDMYECSCP ELDQLVDICR KFGAQGSRLT
410 420 430 440 450
GAGWGGCTVS MVPADKLPSF LANVHKAYYQ RSDGSLAPEK QSLFATKPGG

GALVLLEA
Length:458
Mass (Da):50,378
Last modified:July 1, 1993 - v1
Checksum:i192B774938F32947
GO
Isoform 2 (identifier: Q01415-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:447
Mass (Da):49,235
Checksum:i66D4925D605D1A4F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti182 – 1821I → V.
Corresponds to variant rs35507772 [ dbSNP | Ensembl ].
VAR_049123

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1717MATES…VAEHP → MPVLYD in isoform 2. 1 PublicationVSP_042897Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS32236.1. [Q01415-2]
CCDS42034.1. [Q01415-1]
PIRiA46366.
RefSeqiNP_001001556.1. NM_001001556.2. [Q01415-2]
NP_002035.1. NM_002044.3. [Q01415-1]
UniGeneiHs.122006.
Hs.738080.
Hs.738534.

Genome annotation databases

EnsembliENST00000327171; ENSP00000316632; ENSG00000156958. [Q01415-2]
ENST00000560031; ENSP00000453129; ENSG00000156958. [Q01415-1]
GeneIDi2585.
KEGGihsa:2585.
UCSCiuc001zxi.1. human. [Q01415-2]
uc001zxj.1. human. [Q01415-1]

Polymorphism databases

DMDMi399518.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS32236.1. [Q01415-2 ]
CCDS42034.1. [Q01415-1 ]
PIRi A46366.
RefSeqi NP_001001556.1. NM_001001556.2. [Q01415-2 ]
NP_002035.1. NM_002044.3. [Q01415-1 ]
UniGenei Hs.122006.
Hs.738080.
Hs.738534.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2A2C X-ray 1.65 A 1-458 [» ]
2A2D X-ray 2.20 A 1-458 [» ]
ProteinModelPortali Q01415.
SMRi Q01415. Positions 2-458.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108858. 1 interaction.
MINTi MINT-5004443.
STRINGi 9606.ENSP00000379766.

PTM databases

PhosphoSitei Q01415.

Polymorphism databases

DMDMi 399518.

Proteomic databases

MaxQBi Q01415.
PaxDbi Q01415.
PRIDEi Q01415.

Protocols and materials databases

DNASUi 2585.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000327171 ; ENSP00000316632 ; ENSG00000156958 . [Q01415-2 ]
ENST00000560031 ; ENSP00000453129 ; ENSG00000156958 . [Q01415-1 ]
GeneIDi 2585.
KEGGi hsa:2585.
UCSCi uc001zxi.1. human. [Q01415-2 ]
uc001zxj.1. human. [Q01415-1 ]

Organism-specific databases

CTDi 2585.
GeneCardsi GC15P049447.
HGNCi HGNC:4119. GALK2.
HPAi HPA043564.
HPA048267.
MIMi 137028. gene.
neXtProti NX_Q01415.
PharmGKBi PA28534.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0153.
GeneTreei ENSGT00530000063433.
HOGENOMi HOG000241099.
HOVERGENi HBG051696.
InParanoidi Q01415.
KOi K00849.
OMAi RRAGTWG.
PhylomeDBi Q01415.
TreeFami TF324235.

Miscellaneous databases

EvolutionaryTracei Q01415.
GenomeRNAii 2585.
NextBioi 10227.
PROi Q01415.
SOURCEi Search...

Gene expression databases

Bgeei Q01415.
CleanExi HS_GALK2.
ExpressionAtlasi Q01415. baseline and differential.
Genevestigatori Q01415.

Family and domain databases

Gene3Di 3.30.230.10. 1 hit.
3.30.70.890. 2 hits.
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. 2 hits.
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 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.
    , 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. 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.

Entry informationi

Entry nameiGALK2_HUMAN
AccessioniPrimary (citable) accession number: Q01415
Secondary accession number(s): Q7Z4Q4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: October 29, 2014
This is version 141 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, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3