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Aliases for GPN1 Gene

Aliases for GPN1 Gene

  • GPN-Loop GTPase 1 2 3 5
  • RNA Polymerase II Associated Protein 4 2 3
  • XPA Binding Protein 1, GTPase 2 3
  • RNAPII-Associated Protein 4 3 4
  • MBD2-Interacting Protein 3 4
  • MBDIN 3 4
  • RPAP4 3 4
  • XAB1 3 4
  • ATP(GTP)-Binding Protein 3
  • XPA Binding Protein 1 2
  • XPA-Binding Protein 1 4
  • EC 3.6.5.- 4
  • ATPBD1A 3
  • NTPBP 3

External Ids for GPN1 Gene

Previous HGNC Symbols for GPN1 Gene

  • XAB1

Previous GeneCards Identifiers for GPN1 Gene

  • GC02P027705
  • GC02P027821

Summaries for GPN1 Gene

Entrez Gene Summary for GPN1 Gene

  • This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

GeneCards Summary for GPN1 Gene

GPN1 (GPN-Loop GTPase 1) is a Protein Coding gene. GO annotations related to this gene include nucleotide binding and GTPase activity.

UniProtKB/Swiss-Prot for GPN1 Gene

  • Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation (PubMed:17643375). May be involved in nuclear localization of XPA (PubMed:11058119).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPN1 Gene

Genomics for GPN1 Gene

Regulatory Elements for GPN1 Gene

Enhancers for GPN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G027719 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22.2 +92.5 92501 2.5 SIN3A GLI4 BRCA1 ZNF2 GATA2 ZNF416 FOS SP3 TSHZ1 ZNF623 ZNF512 CAD GPN1 GTF3C2 ENSG00000272148 AGBL5-IT1 SNX17 ENSG00000272056 LOC105374363 RBKS
GH02G026717 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.4 -906.0 -905993 10.1 HDGF FOXA2 MLX CREB3L1 SIN3A DMAP1 YY1 ZNF766 FOS ZNF263 CENPA GPN1 CAD LOC105374363 ZNF512 NRBP1 GTF3C2-AS1 KCNK3 SLC35F6 ENSG00000235267
GH02G027427 1.1 ENCODE 27.5 -198.4 -198439 4.8 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 SNX17 GPN1 CAD LOC105374363 NRBP1 GTF3C2-AS1 ZNF513 FNDC4 GCKR IFT172
GH02G027662 1.2 ENCODE 25.2 +35.4 35399 2.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ZNF512 GPN1 CCDC121 GTF3C2 ENSG00000272148 SNX17 SLC4A1AP OST4 ENSG00000206731 AGBL5-IT1
GH02G028344 1.5 FANTOM5 ENCODE dbSUPER 17.4 +718.2 718228 4.9 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9 GTF3C2 GPN1 LOC105374363 WDR43 NRBP1 SNX17 LOC105374381 LOC100505716
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPN1 on UCSC Golden Path with GeneCards custom track

Promoters for GPN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114441 853 1401 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for GPN1 Gene

Chromosome:
2
Start:
27,628,247 bp from pter
End:
27,651,508 bp from pter
Size:
23,262 bases
Orientation:
Plus strand

Genomic View for GPN1 Gene

Genes around GPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPN1 Gene

Proteins for GPN1 Gene

  • Protein details for GPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCN4-GPN1_HUMAN
    Recommended name:
    GPN-loop GTPase 1
    Protein Accession:
    Q9HCN4
    Secondary Accessions:
    • B4DQJ5
    • B4DQM4
    • B4DXU4
    • B5MBZ5
    • O76004

    Protein attributes for GPN1 Gene

    Size:
    374 amino acids
    Molecular mass:
    41740 Da
    Quaternary structure:
    • Heterodimer with GPN3 (PubMed:21768307). Binds to RNA polymerase II (RNAPII) (PubMed:17643375, PubMed:20864038, PubMed:21844196). Interacts directly with RNAPII subunits RPB4 and RPB7 and the CTD of RPB1 (PubMed:21768307). Interacts with XPA (PubMed:11058119).

    Alternative splice isoforms for GPN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GPN1 Gene

Post-translational modifications for GPN1 Gene

  • Ubiquitination at isoforms=2, 3, 4, 5278 and posLast=297297
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GPN1 Gene

Domains & Families for GPN1 Gene

Gene Families for GPN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCN4

UniProtKB/Swiss-Prot:

GPN1_HUMAN :
  • Belongs to the GPN-loop GTPase family.
Family:
  • Belongs to the GPN-loop GTPase family.
genes like me logo Genes that share domains with GPN1: view

Function for GPN1 Gene

Molecular function for GPN1 Gene

UniProtKB/Swiss-Prot Function:
Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding proteins, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation (PubMed:17643375). May be involved in nuclear localization of XPA (PubMed:11058119).

Enzyme Numbers (IUBMB) for GPN1 Gene

Gene Ontology (GO) - Molecular Function for GPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 25241168
GO:0005525 GTP binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GPN1: view
genes like me logo Genes that share phenotypes with GPN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GPN1

CRISPR Products

miRNA for GPN1 Gene

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GPN1 Gene

Localization for GPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPN1 Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000269 PubMed:20855544}.

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 GPN1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 4

Gene Ontology (GO) - Cellular Components for GPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with GPN1: view

Pathways & Interactions for GPN1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044376 RNA polymerase II complex import to nucleus IBA --
GO:1990022 RNA polymerase III complex localization to nucleus IBA --
genes like me logo Genes that share ontologies with GPN1: view

No data available for Pathways by source and SIGNOR curated interactions for GPN1 Gene

Drugs & Compounds for GPN1 Gene

No Compound Related Data Available

Transcripts for GPN1 Gene

Unigene Clusters for GPN1 Gene

GPN-loop GTPase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GPN1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a ·
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - -
SP7: - -
SP8: - -
SP9: - - - - -
SP10:
SP11:

ExUns: 14b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for GPN1 Gene

GeneLoc Exon Structure for
GPN1
ECgene alternative splicing isoforms for
GPN1

Expression for GPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GPN1 Gene

This gene is overexpressed in Bone (28.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GPN1 Gene



Protein tissue co-expression partners for GPN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GPN1 Gene:

GPN1

SOURCE GeneReport for Unigene cluster for GPN1 Gene:

Hs.18259

mRNA Expression by UniProt/SwissProt for GPN1 Gene:

Q9HCN4-GPN1_HUMAN
Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for GPN1 Gene

  • Spleen(4.3)
  • Liver(4.2)
  • Muscle(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with GPN1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPN1 Gene

Orthologs for GPN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPN1 34 35
  • 99.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GPN1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPN1 34 35
  • 92.03 (n)
dog
(Canis familiaris)
Mammalia GPN1 34 35
  • 91.62 (n)
mouse
(Mus musculus)
Mammalia Gpn1 34 16 35
  • 87.33 (n)
rat
(Rattus norvegicus)
Mammalia Gpn1 34
  • 87 (n)
oppossum
(Monodelphis domestica)
Mammalia GPN1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves XAB1 34
  • 74.93 (n)
GPN1 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPN1 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11612 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.31084 34
zebrafish
(Danio rerio)
Actinopterygii zgc:100927 34
  • 72.74 (n)
GPN1 35
  • 72 (a)
OneToOne
Dr.14823 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1169 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010314 34
  • 63.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3704 34 35
  • 60.35 (n)
worm
(Caenorhabditis elegans)
Secernentea gop-2 34 35
  • 57.96 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B14124g 34
  • 58.18 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR428C 34
  • 57.71 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NPA3 34 35 37
  • 55.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons QQT2 34
  • 56.53 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8234 34
rice
(Oryza sativa)
Liliopsida Os03g0312600 34
  • 59.52 (n)
Os.14774 34
barley
(Hordeum vulgare)
Liliopsida Hv.4333 34
wheat
(Triticum aestivum)
Liliopsida Ta.5068 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6086 35
  • 62 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04507 34
  • 57.16 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC119.15 34
  • 55.48 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9261 34
Species where no ortholog for GPN1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for GPN1 Gene

ENSEMBL:
Gene Tree for GPN1 (if available)
TreeFam:
Gene Tree for GPN1 (if available)

Paralogs for GPN1 Gene

(2) SIMAP similar genes for GPN1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for GPN1 Gene

genes like me logo Genes that share paralogs with GPN1: view

No data available for Paralogs for GPN1 Gene

Variants for GPN1 Gene

Sequence variations from dbSNP and Humsavar for GPN1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000051484 -- 27,634,748(+) TTACT(A/C/G)CAGTC intron-variant
rs1000493511 -- 27,627,509(+) CTGGA(C/T)TGGAT upstream-variant-2KB, reference, synonymous-codon
rs1000519908 -- 27,642,047(+) ATTTT(A/G)TAGGC intron-variant
rs1000555549 -- 27,647,033(+) TGAGG(A/C)AAGTC intron-variant
rs1000691367 -- 27,646,669(+) TAAAA(G/T)AAAAG intron-variant

Variation tolerance for GPN1 Gene

Residual Variation Intolerance Score: 51.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.58; 78.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPN1 Gene

Human Gene Mutation Database (HGMD)
GPN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GPN1 Gene

Disorders for GPN1 Gene

Relevant External Links for GPN1

Genetic Association Database (GAD)
GPN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPN1

No disorders were found for GPN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GPN1 Gene

Publications for GPN1 Gene

  1. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PMID: 11124703) Stanchi F. … Valle G. (Yeast 2001) 2 3 4 64
  2. A novel cytoplasmic GTPase XAB1 interacts with DNA repair protein XPA. (PMID: 11058119) Nitta M. … Tanaka K. (Nucleic Acids Res. 2000) 2 3 4 64
  3. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. (PMID: 21386085) Kraja A.T. … Borecki I.B. (Diabetes 2011) 3 46 64
  4. Human GTPases associate with RNA polymerase II to mediate its nuclear import. (PMID: 21768307) CarrAc C. … Shiekhattar R. (Mol. Cell. Biol. 2011) 3 4 64
  5. The protein interaction network of the human transcription machinery reveals a role for the conserved GTPase RPAP4/GPN1 and microtubule assembly in nuclear import and biogenesis of RNA polymerase II. (PMID: 20855544) Forget D. … Coulombe B. (Mol. Cell Proteomics 2010) 3 4 64

Products for GPN1 Gene

Sources for GPN1 Gene

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