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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NADKD1 Gene

protein-coding   GIFtS: 40
GCID: GC05M036192

NAD kinase domain containing 1

(Previous name: chromosome 5 open reading frame 33 )
(Previous symbol: C5orf33)
 Explore 1 disease affiliated with
NADKD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NADKD1    

Aliases
for NADKD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NAD Kinase Domain Containing 11 2
C5orf331 2 3
FLJ305961
Chromosome 5 Open Reading Frame 331
NAD Kinase Domain-Containing Protein 12
EC 2.7.1.233

External Ids:    HGNC: 264041   Entrez Gene: 1336862   Ensembl: ENSG000001526207   UniProtKB: Q4G0N43   

Export aliases for NADKD1 gene to outside databases


Summaries
for NADKD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: NAKD1_HUMAN, Q4G0N4
Function: 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




Genomic Views
for NADKD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for NADKD1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for NADKD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NADKD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13.2   Ensembl cytogenetic band:  5p13.2   HGNC cytogenetic band: 5p13.2

NADKD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NADKD1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M036192:  view genomic region     (about GC identifiers)

Start:
 36,192,694 bp from pter      End:
 36,242,381 bp from pter
Size:
 49,688 bases      Orientation:
 minus strand

Proteins
for NADKD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NAKD1_HUMAN, Q4G0N4 (See protein sequence)
Recommended Name: NAD kinase domain-containing protein 1, mitochondrial precursor  
Size: 442 amino acids; 49433 Da
Subunit: Homodimer (Probable)
Subcellular location: Mitochondrion
Secondary accessions: B5MC93 Q6UTX5 Q96NM0
Alternative splicing: 3 isoforms:  Q4G0N4-1   Q4G0N4-2   Q4G0N4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NADKD1: NX_Q4G0N4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q4G0N4

    • NADKD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001078880.1  NP_694558.1  

    ENSEMBL proteins: 
     ENSP00000380499   ENSP00000282512   ENSP00000371362   ENSP00000422250   ENSP00000424166  
     ENSP00000421029   ENSP00000426084  

    Human Recombinant Protein Products: 
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    Novus Biologicals NADKD1 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NADKD1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--


    NADKD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NADKD1

    Protein Domains /
    Families
    for NADKD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NADKD1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR012355 ATP-NAD-like_euk
     IPR002504 PolyP/ATP_NADK_prd
     IPR017437 ATP-NAD_kinase_PpnK-typ_all-b
     IPR017438 ATP-NAD_kinase_dom_1
     IPR016064 ATP-NAD_kinase_PpnK-typ

    Graphical View of Domain Structure for InterPro Entry Q4G0N4

    ProtoNet protein and cluster: Q4G0N4

    UniProtKB/Swiss-Prot: NAKD1_HUMAN, Q4G0N4
    Similarity: Belongs to the NAD kinase family


    Function
    for NADKD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NAKD1_HUMAN, Q4G0N4
    Function: 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
    Catalytic activity: ATP + NAD(+) = ADP + NADP(+)
    Enzyme regulation: Inhibited by NADH, NADPH and NADP(+)
    Biophysicochemical properties: Kinetic parameters: KM=0.022 mM for NAD(+); KM=1.7 mM for ATP; KM=1.2 mM for
    tetrapolyphosphate; Vmax=0.091 umol/min/mg enzyme;

    Enzyme Number (IUBMB): EC 2.7.1.231

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate NADKD1 (see all 23):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-340 hsa-miR-570 hsa-miR-374a* hsa-miR-409-5p hsa-miR-186 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: NADKD1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NADKD1 (see all 4)
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for NADKD1

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IDA--
    GO:0005524ATP binding IEA--
    GO:0042803protein homodimerization activity IDA--


    NADKD1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NADKD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NADKD1

    1 Interacting protein for NADKD1 (Q4G0N43) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYH6P135333I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006741NADP biosynthetic process IEA--
    GO:0019674NAD metabolic process IDA--


    NADKD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NADKD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NADKD1
    Search CenterWatch for drugs/clinical trials and news about NADKD1 / NAKD1 

    Transcripts
    for NADKD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NADKD1 gene (2 alternative transcripts): 
    NM_001085411.1  NM_153013.3  

    Unigene Cluster for NADKD1:

    NAD kinase domain containing 1
    Hs.81907  [show with all ESTs]
    Unigene Representative Sequence: NM_001085411
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397338(uc003jke.4 uc010iux.3 uc003jkf.4 uc003jkg.4 uc011cov.2)
    ENST00000404560 ENST00000282512 ENST00000381937 ENST00000511613 ENST00000506945
    ENST00000502355 ENST00000509225 ENST00000514504 ENST00000511088

    miRNA
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    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate NADKD1 (see all 23):
    hsa-miR-142-5p hsa-miR-607 hsa-miR-340 hsa-miR-570 hsa-miR-374a* hsa-miR-409-5p hsa-miR-186 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmid: NADKD1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK055158.1 AK057950.1 AK304009.1 AY360463.1 BC032912.1 BC045565.1 BC062567.1 BX648388.1 

    12 DOTS entries:

    DT.91721131  DT.91721128  DT.100033602  DT.95158833  DT.100022958  DT.114193  DT.120807252  DT.120807279 
    DT.95323724  DT.102826831  DT.120807270  DT.97796274 

    24/127 AceView cDNA sequences (see all 127):

    AI453203 CB155327 BX648388 CA423922 CB113587 AY360463 AI565337 NM_153013 
    AA688425 N49595 F02028 AI038703 BU674306 H60144 F04448 F05782 
    AI373326 BQ024467 T68464 AA682606 F08707 F08205 F04449 BC062567 

    GeneLoc Exon Structure


    Expression
    for NADKD1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NADKD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCGGCCTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NADKD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NADKD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NADKD1

    SOURCE GeneReport for Unigene cluster: Hs.81907

    UniProtKB/Swiss-Prot: NAKD1_HUMAN, Q4G0N4
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:     
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    Orthologs
    for NADKD1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NADKD1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nadkd11 , 5 RIKEN cDNA 1110020G09 gene5
    NAD kinase domain containing 11    		 89.38(n)1
    94.88(a)1    		   15 (3.82 cM)5
    686461  NM_001040395.31  NP_001035485.21 
     90712605 
    chicken
    (Gallus gallus)    		 Aves NADKD11 NAD kinase domain containing 1 76.42(n)
    79.39(a)    		   427438  XM_425010.3  XP_425010.3 
    lizard
    (Anolis carolinensis)    		 Reptilia NADKD16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL343241.1(1521732-1546583)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.26382 Xenopus laevis transcribed sequence with weak similarity more 74.36(n)    48050728 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.132382 Transcribed sequence with weak similarity to protein more 75.34(n)    CF999985.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG80801 CG8080 46.43(n)
    37.97(a)    		   35918  NM_176108.1  NP_788288.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y17G7B.101 Protein Y17G7B.10 50.4(n)
    45.12(a)    		   174846  NM_064165.4  NP_496566.1 


    ENSEMBL Gene Tree for NADKD1 (if available)
    TreeFam Gene Tree for NADKD1 (if available) 

    Paralogs
    for NADKD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NADKD1 gene
    1 SIMAP similar gene for NADKD1 using alignment to 4 protein entries:     NAKD1_HUMAN (see all proteins):
    C5orf33

    NADKD1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NADKD1
    PGOHUM00000246440


    Genomic Variants
    for NADKD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/862 NCBI SNPs in NADKD1 are shown (see all 862)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs77196861,2
    		C,F,A,H,--36192232(+) AGCCCA/GTAAGA 2 -- ds500123Minor allele frequency- G:0.46NS EA NA WA CSA 2342
    rs1509374251,2
    		--36192238(+) TAAGAC/TTTAAA 2 -- ds50010--------
    rs772394371,2
    		F,--36192422(+) ATTATA/TTTTAG 2 -- ds50011Minor allele frequency- T:0.17EA 120
    rs1407382471,2
    		--36192522(+) ATGGAA/GTGAAT 2 -- ds50010--------
    rs2020335151,2
    		--36192656(+) CCTGG-/CTCTCTC 2 -- ds50010--------
    rs2008756451,2
    		C--36192659(+) TGGCTA/CTCTTT 2 -- ds50010--------
    rs792172981,2
    		C--36192660(+) GCTCTAT/-CTTTC 2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1112876021,2
    		C--36192991(+) GTAACT/AGTGGA 2 -- ut311Minor allele frequency- A:0.00CSA 1
    rs1504793181,2
    		--36192992(+) TAACAC/GTGGAG 2 -- ut310--------
    rs1452441181,2
    		C,--36193036(+) TTAAC-/TCAT  
                TCAAA     		2 -- ut310--------

    HapMap Linkage Disequilibrium report for NADKD1 (36192694 - 36242381 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NADKD1: --

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    Disorders / Diseases
    for NADKD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NADKD1 for disorders           About GeneDecksing

    1 disease for NADKD1:    About MalaCards
    malaria


    Export disorders for NADKD1 gene to outside databases

    Publications
    for NADKD1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NADKD1 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with NADKD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a human mitochondrial NAD kinase. (PubMed id 23212377)1, 2 Ohashi K.... Murata K. (2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (2004)

    External Searches for NADKD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing NADKD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 133686 HGNC: 26404 AceView: FLJ30596 Ensembl:ENSG00000152620 euGenes: HUgn133686
    ECgene: NADKD1 H-InvDB: NADKD1

    Other Databases showing NADKD1 gene

    (According to HUGE)
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    Specialized Databases showing NADKD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NADKD1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NADKD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NADKD1 gene:
    Search GeneIP for patents involving NADKD1

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