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Protein

NAD kinase 2, mitochondrial

Gene

NADK2

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

Functioni

Mitochondrial NAD+ kinase that phosphorylates NAD+ to yield NADP+. Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD+ kinase activity and may not be relevant in vivo.1 Publication

Catalytic activityi

ATP + NAD+ = ADP + NADP+.1 Publication

Enzyme regulationi

Inhibited by NADH, NADPH and NADP+.1 Publication

Kineticsi

  1. KM=0.022 mM for NAD+1 Publication
  2. KM=1.7 mM for ATP1 Publication
  3. KM=1.2 mM for tetrapolyphosphate1 Publication
  1. Vmax=0.091 µmol/min/mg enzyme1 Publication

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • NAD+ kinase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

  • NAD metabolic process Source: UniProtKB
  • NADP biosynthetic process Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, NAD, NADP, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
NAD kinase 2, mitochondrial (EC:2.7.1.23)
Alternative name(s):
Mitochondrial NAD kinase
NAD kinase domain-containing protein 1, mitochondrial
Gene namesi
Name:NADK2
Synonyms:C5orf33, MNADK, NADKD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26404. NADK2.

Subcellular locationi

  • Mitochondrion 1 Publication

GO - Cellular componenti

  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

2,4-dienoyl-CoA reductase deficiency (DECRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.
See also OMIM:616034

Organism-specific databases

DisGeNETi133686.
MalaCardsiNADK2.
MIMi616034. phenotype.
OpenTargetsiENSG00000152620.
PharmGKBiPA162380039.

Polymorphism and mutation databases

BioMutaiNADK2.
DMDMi156630863.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 62MitochondrionSequence analysisAdd BLAST62
ChainiPRO_000029629263 – 442NAD kinase 2, mitochondrialAdd BLAST380

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei76N6-acetyllysine; alternateBy similarity1
Modified residuei76N6-succinyllysine; alternateBy similarity1
Modified residuei188PhosphoserineCombined sources1
Modified residuei302N6-succinyllysineBy similarity1
Modified residuei317N6-acetyllysine; alternateBy similarity1
Modified residuei317N6-succinyllysine; alternateBy similarity1
Modified residuei367PhosphoserineCombined sources1
Modified residuei397N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ4G0N4.
MaxQBiQ4G0N4.
PaxDbiQ4G0N4.
PeptideAtlasiQ4G0N4.
PRIDEiQ4G0N4.

PTM databases

iPTMnetiQ4G0N4.
PhosphoSitePlusiQ4G0N4.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000152620.
CleanExiHS_C5orf33.
ExpressionAtlasiQ4G0N4. baseline and differential.
GenevisibleiQ4G0N4. HS.

Organism-specific databases

HPAiHPA038366.
HPA038367.
HPA061492.

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi126369. 17 interactors.
IntActiQ4G0N4. 1 interactor.
MINTiMINT-3056473.
STRINGi9606.ENSP00000371362.

Structurei

3D structure databases

ProteinModelPortaliQ4G0N4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NAD kinase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG4180. Eukaryota.
ENOG410XQA4. LUCA.
GeneTreeiENSGT00390000006320.
HOVERGENiHBG106388.
InParanoidiQ4G0N4.
KOiK00858.
OMAiLDHQDVV.
OrthoDBiEOG091G0AX1.
PhylomeDBiQ4G0N4.
TreeFamiTF314077.

Family and domain databases

Gene3Di2.60.200.30. 2 hits.
3.40.50.10330. 1 hit.
InterProiIPR017438. ATP-NAD_kinase_dom_1.
IPR017437. ATP-NAD_kinase_PpnK-typ_all-b.
IPR016064. NAD/diacylglycerol_kinase.
IPR002504. NADK.
IPR012355. NADK_euk.
[Graphical view]
PfamiPF01513. NAD_kinase. 1 hit.
[Graphical view]
PIRSFiPIRSF017565. Kin_ATP-NAD_euk. 1 hit.
SUPFAMiSSF111331. SSF111331. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4G0N4-1) [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
MTCYRGFLLG SCCRVAGGRA AALRGPGAGG PAARPRLGGD GGGRRHLGQG
60 70 80 90 100
QPRELAGCGS RADGGFRPSR VVVVAKTTRY EFEQQRYRYA ELSEEDLKQL
110 120 130 140 150
LALKGSSYSG LLERHHIHTK NVEHIIDSLR NEGIEVRLVK RREYDEETVR
160 170 180 190 200
WADAVIAAGG DGTMLLAASK VLDRLKPVIG VNTDPERSEG HLCLPVRYTH
210 220 230 240 250
SFPEALQKFY RGEFRWLWRQ RIRLYLEGTG INPVPVDLHE QQLSLNQHNR
260 270 280 290 300
ALNIERAHDE RSEASGPQLL PVRALNEVFI GESLSSRASY YEISVDDGPW
310 320 330 340 350
EKQKSSGLNL CTGTGSKAWS FNINRVATQA VEDVLNIAKR QGNLSLPLNR
360 370 380 390 400
ELVEKVTNEY NESLLYSPEE PKILFSIREP IANRVFSSSR QRCFSSKVCV
410 420 430 440
RSRCWDACMV VDGGTSFEFN DGAIASMMIN KEDELRTVLL EQ
Length:442
Mass (Da):49,433
Last modified:July 24, 2007 - v2
Checksum:i289EA16979AF14D8
GO
Isoform 2 (identifier: Q4G0N4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     288-319: Missing.

Note: No experimental confirmation available.
Show »
Length:410
Mass (Da):45,972
Checksum:iBAED88797577AAC2
GO
Isoform 3 (identifier: Q4G0N4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-163: Missing.

Show »
Length:279
Mass (Da):31,716
Checksum:i8A6977E19682F747
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0271921 – 163Missing in isoform 3. 2 PublicationsAdd BLAST163
Alternative sequenceiVSP_027193288 – 319Missing in isoform 2. 1 PublicationAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055158 mRNA. Translation: BAB70864.1.
AC008807 Genomic DNA. No translation available.
AC008942 Genomic DNA. No translation available.
BC045565 mRNA. No translation available.
BC062567 mRNA. Translation: AAH62567.1.
AY360463 mRNA. Translation: AAQ62967.1.
CCDSiCCDS3917.1. [Q4G0N4-3]
CCDS47197.1. [Q4G0N4-1]
RefSeqiNP_001078880.1. NM_001085411.2. [Q4G0N4-1]
NP_001274269.1. NM_001287340.1. [Q4G0N4-3]
NP_001274270.1. NM_001287341.1.
NP_694558.1. NM_153013.4. [Q4G0N4-3]
UniGeneiHs.81907.

Genome annotation databases

EnsembliENST00000282512; ENSP00000282512; ENSG00000152620. [Q4G0N4-3]
ENST00000381937; ENSP00000371362; ENSG00000152620. [Q4G0N4-1]
ENST00000397338; ENSP00000380499; ENSG00000152620. [Q4G0N4-3]
ENST00000514504; ENSP00000421029; ENSG00000152620. [Q4G0N4-2]
GeneIDi133686.
KEGGihsa:133686.
UCSCiuc003jkf.6. human. [Q4G0N4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055158 mRNA. Translation: BAB70864.1.
AC008807 Genomic DNA. No translation available.
AC008942 Genomic DNA. No translation available.
BC045565 mRNA. No translation available.
BC062567 mRNA. Translation: AAH62567.1.
AY360463 mRNA. Translation: AAQ62967.1.
CCDSiCCDS3917.1. [Q4G0N4-3]
CCDS47197.1. [Q4G0N4-1]
RefSeqiNP_001078880.1. NM_001085411.2. [Q4G0N4-1]
NP_001274269.1. NM_001287340.1. [Q4G0N4-3]
NP_001274270.1. NM_001287341.1.
NP_694558.1. NM_153013.4. [Q4G0N4-3]
UniGeneiHs.81907.

3D structure databases

ProteinModelPortaliQ4G0N4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126369. 17 interactors.
IntActiQ4G0N4. 1 interactor.
MINTiMINT-3056473.
STRINGi9606.ENSP00000371362.

PTM databases

iPTMnetiQ4G0N4.
PhosphoSitePlusiQ4G0N4.

Polymorphism and mutation databases

BioMutaiNADK2.
DMDMi156630863.

Proteomic databases

EPDiQ4G0N4.
MaxQBiQ4G0N4.
PaxDbiQ4G0N4.
PeptideAtlasiQ4G0N4.
PRIDEiQ4G0N4.

Protocols and materials databases

DNASUi133686.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282512; ENSP00000282512; ENSG00000152620. [Q4G0N4-3]
ENST00000381937; ENSP00000371362; ENSG00000152620. [Q4G0N4-1]
ENST00000397338; ENSP00000380499; ENSG00000152620. [Q4G0N4-3]
ENST00000514504; ENSP00000421029; ENSG00000152620. [Q4G0N4-2]
GeneIDi133686.
KEGGihsa:133686.
UCSCiuc003jkf.6. human. [Q4G0N4-1]

Organism-specific databases

CTDi133686.
DisGeNETi133686.
GeneCardsiNADK2.
H-InvDBHIX0004812.
HGNCiHGNC:26404. NADK2.
HPAiHPA038366.
HPA038367.
HPA061492.
MalaCardsiNADK2.
MIMi615787. gene.
616034. phenotype.
neXtProtiNX_Q4G0N4.
OpenTargetsiENSG00000152620.
PharmGKBiPA162380039.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4180. Eukaryota.
ENOG410XQA4. LUCA.
GeneTreeiENSGT00390000006320.
HOVERGENiHBG106388.
InParanoidiQ4G0N4.
KOiK00858.
OMAiLDHQDVV.
OrthoDBiEOG091G0AX1.
PhylomeDBiQ4G0N4.
TreeFamiTF314077.

Miscellaneous databases

ChiTaRSiNADK2. human.
GenomeRNAii133686.
PROiQ4G0N4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152620.
CleanExiHS_C5orf33.
ExpressionAtlasiQ4G0N4. baseline and differential.
GenevisibleiQ4G0N4. HS.

Family and domain databases

Gene3Di2.60.200.30. 2 hits.
3.40.50.10330. 1 hit.
InterProiIPR017438. ATP-NAD_kinase_dom_1.
IPR017437. ATP-NAD_kinase_PpnK-typ_all-b.
IPR016064. NAD/diacylglycerol_kinase.
IPR002504. NADK.
IPR012355. NADK_euk.
[Graphical view]
PfamiPF01513. NAD_kinase. 1 hit.
[Graphical view]
PIRSFiPIRSF017565. Kin_ATP-NAD_euk. 1 hit.
SUPFAMiSSF111331. SSF111331. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiNAKD2_HUMAN
AccessioniPrimary (citable) accession number: Q4G0N4
Secondary accession number(s): B5MC93, Q6UTX5, Q96NM0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: November 2, 2016
This is version 94 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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 one 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.