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NKPD1 Gene

protein-coding   GIFtS: 40
GCID: GC19M045655

NTPase, KAP Family P-Loop Domain Containing 1

  Search for NKPD1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NTPase, KAP Family P-Loop Domain Containing 11 2
NTPase KAP Family P-Loop Domain-Containing Protein 12

External Ids:    HGNC: 247391   Entrez Gene: 2843532   Ensembl: ENSG000001798467   UniProtKB: Q17RQ93   

Export aliases for NKPD1 gene to outside databases

Previous GC identifers: GC19M050347 GC19M050348 GC19M042083


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NKPD1 Gene:
NKPD1 (NTPase, KAP family P-loop domain containing 1) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NKPD1 gene promoter:
         Max1   Elk-1   AP-1   Ik-2   AP-4   POU3F2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNKPD1 promoter sequence
   Search Chromatin IP Primers for NKPD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NKPD1


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

Entrez Gene cytogenetic band: 19q13.32   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.32

NKPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NKPD1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M045655:  view genomic region     (about GC identifiers)

Start:
45,653,008 bp from pter      End:
45,663,408 bp from pter
Size:
10,401 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NKPD1_HUMAN, Q17RQ9 (See protein sequence)
Recommended Name: NTPase KAP family P-loop domain-containing protein 1  
Size: 610 amino acids; 67780 Da
Sequence caution: Sequence=BAC03547.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Secondary accessions: B7ZLG6 D6RH15 Q8N2A2

Explore the universe of human proteins at neXtProt for NKPD1: NX_Q17RQ9

Explore proteomics data for NKPD1 at MOPED


See NKPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_940880.3  
ENSEMBL proteins: 
 ENSP00000468649   ENSP00000401739   ENSP00000321976   ENSP00000404706  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR011646 KAP_NTPase

Graphical View of Domain Structure for InterPro Entry Q17RQ9

ProtoNet protein and cluster: Q17RQ9

UniProtKB/Swiss-Prot: NKPD1_HUMAN, Q17RQ9
Similarity: Contains 1 KAP NTPase domain


Find genes that share domains with NKPD1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for NKPD1:
 Decreased viability of wild-ty 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NKPD1_HUMAN, Q17RQ9: Membrane; Multi-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
plasma membrane3
cytosol1
endoplasmic reticulum1
nucleus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with NKPD1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NKPD1
Interactions:

    Search GeneGlobe Interaction Network for NKPD1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NKPD1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for NKPD1 gene: 
NM_198478.3  

Unigene Cluster for NKPD1:

NTPase, KAP family P-loop domain containing 1
Hs.299256  [show with all ESTs]
Unigene Representative Sequence: NM_198478
4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000589776 ENST00000438936 ENST00000317951(uc010xxi.2) ENST00000429338

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3 DOTS entries:

DT.75183972  DT.121485181  DT.40124242 

3 AceView cDNA sequences:

AK090919 AX746682 NM_198478 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NKPD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGTCTCATCC
NKPD1 Expression
About this image

NKPD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NKPD1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.299256
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In Situ
Assay Products:
 

 
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for NKPD1 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nkpd11 , 5 NTPase, KAP family P-loop domain containing 11, 5 83.15(n)1
81.6(a)1
  7 (9.92 cM)5
695471  NM_027116.11  NP_081392.11 
 195187315 
lizard
(Anolis carolinensis)
Reptilia NKPD16
NTPase, KAP family P-loop domain containing 1
51(a)
1 ↔ 1
LGf(3314893-3324584)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004895521 NTPase KAP family P-loop domain-containing protein more 52.18(n)
48.45(a)
  100489552  XM_004916970.1  XP_004917027.1 
zebrafish
(Danio rerio)
Actinopterygii LOC5619461 NTPase KAP family P-loop domain-containing protein more 45.22(n)
35.66(a)
  561946  XM_685343.4  XP_690435.2 


ENSEMBL Gene Tree for NKPD1 (if available)
TreeFam Gene Tree for NKPD1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for NKPD1 (see all 261)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs765000321,2
C,F--45652526(+) TCATTT/ATAATG 1 -- ds50012Minor allele frequency- A:0.06NA EA 240
rs1464974471,2
--45652655(+) GAGTGC/TGGAGA 1 -- ds50010--------
rs10054521,2
F,H--45652672(+) gcaatG/Ccacca 1 -- ds50015Minor allele frequency- C:0.01NS EA WA 538
rs792820471,2
C,F--45652696(+) GGCACA/GGAGAG 1 -- ds50011Minor allele frequency- G:0.03EA 120
rs800807191,2
--45652744(+) AGAGAC/GGATAC 1 -- ds50011Minor allele frequency- G:0.01WA 118
rs1502627591,2
C--45652804(+) AGAAA-/AAAC  
        
CCACA
1 -- ds50010--------
rs1909947641,2
--45652813(+) CAGCCA/GTTACC 1 -- ds50010--------
rs350709621,2
C,F--45653040(+) CATGTG/AGATGT 1 -- ut314Minor allele frequency- A:0.03NA 98
rs765984791,2
C,F--45653055(+) AGTGGC/AAGGCA 1 -- ut311Minor allele frequency- A:0.12NA 120
rs801828631,2
C,F--45653226(+) TCAGCC/TGTGCT 1 -- ut312Minor allele frequency- T:0.03NA 122

HapMap Linkage Disequilibrium report for NKPD1 (45653008 - 45663408 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for NKPD1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv912143CNV Loss21882294
nsv520051CNV Loss19592680
nsv522341CNV Loss19592680
nsv833842CNV Loss17160897
nsv912142CNV Loss21882294
nsv833843CNV Loss17160897
nsv912144CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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(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.)
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(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)
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PubMed articles for NKPD1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with NKPD1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. (PubMed id 15935074)1 Pinto C.S....Seifert R. (J. Neurochem. 2005)
  3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
  4. 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. (Genome Res. 2004)
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 284353 HGNC: 24739 AceView: NKPD1 Ensembl:ENSG00000179846 euGenes: HUgn284353
ECgene: NKPD1 H-InvDB: NKPD1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for NKPD1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NKPD1 gene:
Search GeneIP for patents involving NKPD1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 LSBio Antibodies in human, mouse, rat for NKPD1
Customized transgenic rodents for:
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 Search Addgene for plasmids for NKPD1
  Search eBioscience for proteins for NKPD1
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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