Q01415 (GALK2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetylgalactosamine kinase
EC=2.7.1.157

Alternative name(s):
GalNAc kinase
Galactokinase 2

Gene names

Name:	GALK2
Synonyms:	GK2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	458 AA.
Sequence status	Complete.
Protein existence	Evidence 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-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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Transferase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	galactose metabolic process Inferred from electronic annotation. Source: InterPro
Cellular_component	cytoplasm Inferred from electronic annotation. Source: InterPro
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW N-acetylgalactosamine kinase activity Inferred from electronic annotation. Source: EC galactokinase activity Inferred from direct assay Ref.6. Source: UniProtKB
Complete GO annotation...

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 key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 458

458

N-acetylgalactosamine kinase

PRO_0000184647

Regions

Nucleotide binding

139 – 149

11

ATP

Region

49 – 52

4

Substrate binding

Region

187 – 190

4

Substrate binding

Sites

Active site

190

1

Proton acceptor By similarity

Site

43

1

Transition state stabilizer By similarity

Natural variations

Alternative sequence

1 – 17

17

MATES…VAEHP → MPVLYD in isoform 2.

VSP_042897

Natural variant

182

1

I → V.
Corresponds to variant rs35507772 [ dbSNP | Ensembl ].

VAR_049123

Secondary structure

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458

Helix Strand Turn

Details...

Beta strand

8 – 11

4

Helix

13 – 15

3

Helix

17 – 30

14

Beta strand

35 – 47

13

Helix

52 – 54

3

Beta strand

58 – 73

16

Beta strand

75 – 77

3

Beta strand

79 – 85

7

Beta strand

91 – 93

3

Beta strand

102 – 104

3

Helix

107 – 121

15

Beta strand

130 – 136

7

Beta strand

142 – 144

3

Helix

146 – 162

17

Helix

168 – 179

12

Helix

180 – 182

3

Helix

189 – 196

8

Beta strand

201 – 206

6

Turn

207 – 210

4

Beta strand

211 – 215

5

Beta strand

221 – 227

7

Helix

234 – 236

3

Helix

239 – 257

19

Turn

262 – 264

3

Helix

268 – 275

8

Helix

279 – 289

11

Helix

297 – 304

8

Helix

308 – 314

7

Helix

318 – 320

3

Helix

328 – 351

24

Helix

356 – 373

18

Helix

380 – 391

12

Beta strand

395 – 399

5

Beta strand

404 – 413

10

Helix

414 – 416

3

Helix

417 – 429

13

Beta strand

442 – 446

5

Beta strand

453 – 457

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 1, 1993. Version 1. Checksum: 192B774938F32947	FASTA	458	50,378
	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
	Isoform 2 [UniParc]. Checksum: 66D4925D605D1A4F	FASTA	447	49,235
	10 20 30 40 50 60 MPVLYDRLLK LKEMFNSKFG SIPKFYVRAP GRVNIIGEHI DYCGYSVLPM AVEQDVLIAV 70 80 90 100 110 120 EPVKTYALQL ANTNPLYPDF STSANNIQID KTKPLWHNYF LCGLKGIQEH FGLSNLTGMN 130 140 150 160 170 180 CLVDGNIPPS SGLSSSSALV CCAGLVTLTV LGRNLSKVEL AEICAKSERY IGTEGGGMDQ 190 200 210 220 230 240 SISFLAEEGT AKLIEFSPLR ATDVKLPSGA VFVIANSCVE MNKAATSHFN IRVMECRLAA 250 260 270 280 290 300 KLLAKYKSLQ WDKVLRLEEV QAKLGISLEE MLLVTEDALH PEPYNPEEIC RCLGISLEEL 310 320 330 340 350 360 RTQILSPNTQ DVLIFKLYQR AKHVYSEAAR VLQFKKICEE APENMVQLLG ELMNQSHMSC 370 380 390 400 410 420 RDMYECSCPE LDQLVDICRK FGAQGSRLTG AGWGGCTVSM VPADKLPSFL ANVHKAYYQR 430 440 SDGSLAPEKQ SLFATKPGGG ALVLLEA

References

	« Hide 'large scale' referencesShow '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. , 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.

IPI

IPI00186704.
IPI00414287.

PIR

A46366.

RefSeq

NP_001001556.1. NM_001001556.1.
NP_002035.1. NM_002044.2.

UniGene

Hs.122006.
Hs.738080.
Hs.738534.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2A2C	X-ray	1.65	A	1-458	[»]
2A2D	X-ray	2.20	A	1-458	[»]

ProteinModelPortal

Q01415.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000379766.

PTM databases

PhosphoSite

Q01415.

Polymorphism databases

DMDM

399518.

Proteomic databases

PaxDb

Q01415.

PRIDE

Q01415.

Protocols and materials databases

DNASU

2585.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000327171; ENSP00000316632; ENSG00000156958.
ENST00000560031; ENSP00000453129; ENSG00000156958.

GeneID

2585.

KEGG

hsa:2585.

UCSC

uc001zxj.1. human.

Organism-specific databases

CTD

2585.

GeneCards

GC15P049447.

HGNC

HGNC:4119. GALK2.

HPA

HPA043564.
HPA048267.

MIM

137028. gene.

neXtProt

NX_Q01415.

PharmGKB

PA28534.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0153.

HOGENOM

HOG000241099.

HOVERGEN

HBG051696.

KO

K00849.

OMA

LKGIQEH.

Gene expression databases

ArrayExpress

Q01415.

Bgee

Q01415.

CleanEx

HS_GALK2.

Genevestigator

Q01415.

GermOnline

ENSG00000156958. Homo sapiens.

Family and domain databases

Gene3D

3.30.230.10. 1 hit.

InterPro

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]

Pfam

PF10509. GalKase_gal_bdg. 1 hit.
PF08544. GHMP_kinases_C. 1 hit.
PF00288. GHMP_kinases_N. 1 hit.
[Graphical view]

PIRSF

PIRSF000530. Galactokinase. 1 hit.

PRINTS

PR00473. GALCTOKINASE.
PR00959. MEVGALKINASE.

SUPFAM

SSF54211. Ribosomal_S5_D2-typ_fold. 1 hit.

TIGRFAMs

TIGR00131. gal_kin. 1 hit.

PROSITE

PS00106. GALACTOKINASE. 1 hit.
PS00627. GHMP_KINASES_ATP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q01415.

GenomeRNAi

2585.

NextBio

10227.

SOURCE

Search...

Entry information

Entry name

GALK2_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 129 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.