Aliases for NPAT Gene

Aliases for NPAT Gene

  • Nuclear Protein, Coactivator Of Histone Transcription 2 3 5
  • Nuclear Protein Of The Ataxia Telangiectasia Mutated Locus 3 4
  • Nuclear Protein, Ataxia-Telangiectasia Locus 2 3
  • Nuclear Protein Of The ATM Locus 3 4
  • Protein NPAT 3 4
  • P220 3 4
  • E14 3 4
  • Nuclear Protein, Co-Activator Of Histone Transcription 3
  • E14/NPAT 3
  • CAND3 4

External Ids for NPAT Gene

Previous GeneCards Identifiers for NPAT Gene

  • GC11M110222
  • GC11M109384
  • GC11M108062
  • GC11M107565
  • GC11M107533
  • GC11M103953

Summaries for NPAT Gene

GeneCards Summary for NPAT Gene

NPAT (Nuclear Protein, Coactivator Of Histone Transcription) is a Protein Coding gene. Diseases associated with NPAT include Ataxia-Telangiectasia and Cleft Palate, Isolated. Among its related pathways are Retinoblastoma (RB) in Cancer. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and protein C-terminus binding.

UniProtKB/Swiss-Prot Summary for NPAT Gene

  • Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters.

Gene Wiki entry for NPAT Gene

Additional gene information for NPAT Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPAT Gene

Genomics for NPAT Gene

GeneHancer (GH) Regulatory Elements for NPAT Gene

Promoters and enhancers for NPAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J108219 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -3.2 -3223 12.2 RXRA FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G USF1 ATM NPAT NONHSAG009544.2 ACAT1 POGLUT3 ENSG00000255467 DDX10 C11orf65 ENSG00000206967 KY994054-006
GH11J107927 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 25 +293.6 293637 2.8 SIN3A NRF1 USF1 SP1 ZIC2 REST ZBTB10 FOS AFF1 ZBTB26 SLC35F2 RAB39A NPAT CWF19L2 CUL5 ALKBH8 DDX10 ENSG00000255353 piR-42694-032
GH11J108008 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.8 +212.6 212640 3.6 EP300 CTCF SIN3A USF1 POLR2G SP1 PHF8 ZFX ZNF10 ZIC2 CUL5 ENSG00000288012 NONHSAG009537.2 NPAT DDX10 ACAT1 piR-33614-046
GH11J107718 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 9.9 +501.4 501423 4.6 EP300 WT1 GATA3 FOS KLF9 STAT3 ZNF416 GATA2 POLR2A MYC SLN DDX10 NPAT SLC35F2 ENSG00000254702
GH11J107839 Enhancer 1 ENCODE 10.7 +380.8 380848 5.6 RXRA ZBTB40 TCF12 SP1 JUND FOS ZNF10 EP300 ZIC2 REST SLC35F2 ENSG00000261098 CWF19L2 NPAT DDX10 piR-57133-091 LOC203930
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPAT on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPAT

Top Transcription factor binding sites by QIAGEN in the NPAT gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • CUTL1
  • GATA-3
  • MZF-1
  • RP58
  • Sp1
  • TBP
  • TFIID

Genomic Locations for NPAT Gene

Genomic Locations for NPAT Gene
chr11:108,157,215-108,222,638
(GRCh38/hg38)
Size:
65,424 bases
Orientation:
Minus strand
chr11:108,027,942-108,093,369
(GRCh37/hg19)
Size:
65,428 bases
Orientation:
Minus strand

Genomic View for NPAT Gene

Genes around NPAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPAT Gene

Proteins for NPAT Gene

  • Protein details for NPAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14207-NPAT_HUMAN
    Recommended name:
    Protein NPAT
    Protein Accession:
    Q14207
    Secondary Accessions:
    • A8K1V5
    • A8K6M2
    • Q13632
    • Q14967
    • Q16580
    • Q86W55
    • Q8IWE9

    Protein attributes for NPAT Gene

    Size:
    1427 amino acids
    Molecular mass:
    154290 Da
    Quaternary structure:
    • Interacts with the cylin/CDK complexes CCNE1/CDK2 and CCNA1/CDK2. Interacts with BZW1, CASP8AP2, CREBBP, MIZF and YY1. Interacts with the RUVBL1, RUVBL2 and TRRAP subunits of the NuA4 complex. May also interact with GAPDH, NME1, NME2 and STIP1.
    SequenceCaution:
    • Sequence=AAB02735.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 11 and 4.; Evidence={ECO:0000305}; Sequence=AAH40356.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH50561.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for NPAT Gene

Post-translational modifications for NPAT Gene

  • Phosphorylated at Ser-775, Ser-779, Ser-1100, Thr-1270 and Thr-1350 by CCNE1/CDK2 at G1-S transition and until prophase, which promotes association with histone gene clusters and stimulates activation of histone transcription. Also phosphorylated by CCNA1/CDK2 in vitro.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPAT Gene

No data available for DME Specific Peptides for NPAT Gene

Domains & Families for NPAT Gene

Gene Families for NPAT Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NPAT Gene

Blocks:
  • Lissencephaly type-1-like homology motif
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NPAT Gene

GenScript: Design optimal peptide antigens:
  • Nuclear protein, ataxia-telangiectasia locus (B9EG70_HUMAN)
  • p220 (NPAT_HUMAN)
  • E14/NPAT (Q7KYL7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14207

UniProtKB/Swiss-Prot:

NPAT_HUMAN :
  • The LisH domain is required for the activation of histone gene transcription.
  • Belongs to the NPAT family.
Domain:
  • The LisH domain is required for the activation of histone gene transcription.
Family:
  • Belongs to the NPAT family.
genes like me logo Genes that share domains with NPAT: view

Function for NPAT Gene

Molecular function for NPAT Gene

UniProtKB/Swiss-Prot Function:
Required for progression through the G1 and S phases of the cell cycle and for S phase entry. Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with MIZF. Also positively regulates the ATM, MIZF and PRKDC promoters. Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters.
UniProtKB/Swiss-Prot Induction:
By expression of E2F1, E2F2, E2F3 and E2F4. Expression is reduced in response to radiation-induced DNA damage.
GENATLAS Biochemistry:
nuclear protein,mapped upstream to the AT locus,in opposite orientation,likely transcribed from a bidirectional promoter,with homology

Phenotypes From GWAS Catalog for NPAT Gene

Gene Ontology (GO) - Molecular Function for NPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity IBA 21873635
GO:0003713 transcription coactivator activity IMP 15988025
GO:0003714 transcription corepressor activity IMP 17163457
GO:0005515 protein binding IPI,IEA 18850719
GO:0008022 protein C-terminus binding IPI 15988025
genes like me logo Genes that share ontologies with NPAT: view
genes like me logo Genes that share phenotypes with NPAT: view

Animal Models for NPAT Gene

MGI Knock Outs for NPAT:
  • Npat Npat<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPAT Gene

Localization for NPAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPAT Gene

Nucleus. Nucleus, Cajal body. Note=Concentrates in two Cajal bodies tethered to histone gene clusters at chromosome 6p21 during G1, S and G2 phases. Also concentrates in two additional Cajal bodies tethered to histone gene clusters at chromosome 1q21 specifically during S and G2 phases.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPAT gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 15988025
GO:0005654 nucleoplasm IDA 17068332
GO:0005737 cytoplasm IDA 17068332
GO:0015030 Cajal body IDA,IEA 15988025
GO:0097504 Gemini of coiled bodies IDA 17068332
genes like me logo Genes that share ontologies with NPAT: view

Pathways & Interactions for NPAT Gene

PathCards logo

SuperPathways for NPAT Gene

SuperPathway Contained pathways
1 Retinoblastoma (RB) in Cancer
genes like me logo Genes that share pathways with NPAT: view

Pathways by source for NPAT Gene

1 BioSystems pathway for NPAT Gene

SIGNOR curated interactions for NPAT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for NPAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle IMP 15988025
GO:0001701 in utero embryonic development IEA --
GO:0007049 cell cycle IEA --
GO:0010468 regulation of gene expression IMP 15988025
GO:0045893 positive regulation of transcription, DNA-templated IBA,IDA 18850719
genes like me logo Genes that share ontologies with NPAT: view

Drugs & Compounds for NPAT Gene

No Compound Related Data Available

Transcripts for NPAT Gene

mRNA/cDNA for NPAT Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPAT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b
SP1: - -
SP2:
SP3:
SP4: -

Relevant External Links for NPAT Gene

GeneLoc Exon Structure for
NPAT

Expression for NPAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPAT Gene

Protein differential expression in normal tissues from HIPED for NPAT Gene

This gene is overexpressed in Lung (24.6), Pancreas (23.6), and Peripheral blood mononuclear cells (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NPAT Gene



Protein tissue co-expression partners for NPAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPAT

SOURCE GeneReport for Unigene cluster for NPAT Gene:

Hs.171061

mRNA Expression by UniProt/SwissProt for NPAT Gene:

Q14207-NPAT_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for NPAT Gene

  • Nervous system(4.5)
  • Intestine(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with NPAT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPAT Gene

Orthologs for NPAT Gene

This gene was present in the common ancestor of chordates.

Orthologs for NPAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPAT 31 30
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NPAT 31 30
  • 87.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPAT 31 30
  • 85.92 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Npat 17 31 30
  • 81.79 (n)
rat
(Rattus norvegicus)
Mammalia Npat 30
  • 80.7 (n)
oppossum
(Monodelphis domestica)
Mammalia NPAT 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPAT 31 30
  • 61.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPAT 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8206 30
zebrafish
(Danio rerio)
Actinopterygii npat 30
  • 54.27 (n)
Species where no ortholog for NPAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPAT Gene

ENSEMBL:
Gene Tree for NPAT (if available)
TreeFam:
Gene Tree for NPAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPAT: view image

Paralogs for NPAT Gene

(19) SIMAP similar genes for NPAT Gene using alignment to 4 proteins:

  • NPAT_HUMAN
  • B9EG70_HUMAN
  • E9PKJ1_HUMAN
  • H0YET3_HUMAN
genes like me logo Genes that share paralogs with NPAT: view

No data available for Paralogs for NPAT Gene

Variants for NPAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPAT Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
720605 Benign: not provided 108,192,199(-) T/C INTRON_VARIANT
723933 Likely Benign: not provided 108,194,004(-) T/C MISSENSE_VARIANT
733665 Likely Benign: not provided 108,173,197(-) T/C MISSENSE_VARIANT
744729 Benign: not provided 108,189,274(-) T/C MISSENSE_VARIANT
754085 Likely Benign: not provided 108,161,667(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NPAT Gene

Structural Variations from Database of Genomic Variants (DGV) for NPAT Gene

Variant ID Type Subtype PubMed ID
dgv1278n100 CNV gain 25217958
esv2670718 CNV deletion 23128226
esv3627672 CNV loss 21293372
nsv1138073 CNV deletion 24896259
nsv472309 CNV novel sequence insertion 20440878
nsv951066 CNV duplication 24416366

Variation tolerance for NPAT Gene

Residual Variation Intolerance Score: 76.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.68; 82.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPAT Gene

Human Gene Mutation Database (HGMD)
NPAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPAT Gene

Disorders for NPAT Gene

MalaCards: The human disease database

(2) MalaCards diseases for NPAT Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ataxia-telangiectasia
  • at
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards
Search NPAT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NPAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NPAT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPAT Gene

Publications for NPAT Gene

  1. S phase activation of the histone H2B promoter by OCA-S, a coactivator complex that contains GAPDH as a key component. (PMID: 12887926) Zheng L … Luo Y (Cell 2003) 3 4 23 54
  2. NPAT expression is regulated by E2F and is essential for cell cycle progression. (PMID: 12665581) Gao G … Zhao J (Molecular and cellular biology 2003) 3 4 23 54
  3. Cell cycle-regulated phosphorylation of p220(NPAT) by cyclin E/Cdk2 in Cajal bodies promotes histone gene transcription. (PMID: 10995387) Ma T … Harper JW (Genes & development 2000) 2 3 4 54
  4. NPAT links cyclin E-Cdk2 to the regulation of replication-dependent histone gene transcription. (PMID: 10995386) Zhao J … Harlow E (Genes & development 2000) 3 4 23 54
  5. Expression of NPAT, a novel substrate of cyclin E-CDK2, promotes S-phase entry. (PMID: 9472014) Zhao J … Harlow E (Genes & development 1998) 3 4 23 54

Products for NPAT Gene

Sources for NPAT Gene