Human Gene GPN1 (ENST00000264718.7_7) from GENCODE V47lift37
  Description: 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). (from UniProt Q9HCN4)
Gencode Transcript: ENST00000264718.7_7
Gencode Gene: ENSG00000198522.14_15
Transcript (Including UTRs)
   Position: hg19 chr2:27,851,863-27,874,375 Size: 22,513 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr2:27,851,884-27,873,067 Size: 21,184 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:27,851,863-27,874,375)mRNA (may differ from genome)Protein (388 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: GPN1_HUMAN
DESCRIPTION: RecName: Full=GPN-loop GTPase 1; AltName: Full=MBD2-interacting protein; Short=MBDin; AltName: Full=XPA-binding protein 1;
FUNCTION: Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. May be involved in nuclear localization of XPA.
SUBUNIT: Tightly associated with the RNA polymerase II complex. Interacts with XPA.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Expressed ubiquitously.
SIMILARITY: Belongs to the GPN-loop GTPase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GPN1
Diseases sorted by gene-association score: oropharynx cancer (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.87 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 608.60 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -1.2021-0.057 Picture PostScript Text
3' UTR -340.221308-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR004130 - Uncharacterised_ATP-bd

Pfam Domains:
PF00009 - Elongation factor Tu GTP binding domain
PF01926 - 50S ribosome-binding GTPase
PF03029 - Conserved hypothetical ATP binding protein

SCOP Domains:
47162 - Apolipoprotein
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
58038 - SNARE fusion complex
58113 - Apolipoprotein A-I

ModBase Predicted Comparative 3D Structure on Q9HCN4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0016787 hydrolase activity

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK303566 - Homo sapiens cDNA FLJ51176 complete cds, highly similar to Zinc finger protein 512.
AK298827 - Homo sapiens cDNA FLJ51045 complete cds, highly similar to XPA-binding protein 1.
AK316404 - Homo sapiens cDNA, FLJ79303 complete cds, highly similar to XPA-binding protein 1.
AK310340 - Homo sapiens cDNA, FLJ17382.
AK298866 - Homo sapiens cDNA FLJ61157 complete cds, highly similar to XPA-binding protein 1.
AK312992 - Homo sapiens cDNA, FLJ93453, Homo sapiens XPA binding protein 1 (XAB1), mRNA.
AK302131 - Homo sapiens cDNA FLJ51142 complete cds, highly similar to XPA-binding protein 1.
JD218976 - Sequence 200000 from Patent EP1572962.
AB044661 - Homo sapiens XAB1 mRNA for XPA binding protein 1, complete cds.
BC007451 - Homo sapiens GPN-loop GTPase 1, mRNA (cDNA clone MGC:4564 IMAGE:3029376), complete cds.
CU675665 - Synthetic construct Homo sapiens gateway clone IMAGE:100019135 5' read XAB1 mRNA.
KJ902226 - Synthetic construct Homo sapiens clone ccsbBroadEn_11620 GPN1 gene, encodes complete protein.
DQ893280 - Synthetic construct clone IMAGE:100005910; FLH195898.01X; RZPDo839H06152D XPA binding protein 1, GTPase (XAB1) gene, encodes complete protein.
DQ896611 - Synthetic construct Homo sapiens clone IMAGE:100011071; FLH195894.01L; RZPDo839H06151D XPA binding protein 1, GTPase (XAB1) gene, encodes complete protein.
AJ010842 - Homo sapiens mRNA for putative ATP(GTP)-binding protein, partial.
AK311423 - Homo sapiens cDNA, FLJ18465.
JD313543 - Sequence 294567 from Patent EP1572962.
JD424765 - Sequence 405789 from Patent EP1572962.
JD562350 - Sequence 543374 from Patent EP1572962.
JD248418 - Sequence 229442 from Patent EP1572962.
JD248419 - Sequence 229443 from Patent EP1572962.
JD491435 - Sequence 472459 from Patent EP1572962.
JD417805 - Sequence 398829 from Patent EP1572962.
JD117893 - Sequence 98917 from Patent EP1572962.
JD356947 - Sequence 337971 from Patent EP1572962.
DQ601156 - Homo sapiens piRNA piR-39222, complete sequence.
JD058030 - Sequence 39054 from Patent EP1572962.
JD521749 - Sequence 502773 from Patent EP1572962.
LF385507 - JP 2014500723-A/193010: Polycomb-Associated Non-Coding RNAs.
MA621084 - JP 2018138019-A/193010: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AB044661, B4DQJ5, B4DQM4, B4DXU4, B5MBZ5, ENST00000264718.1, ENST00000264718.2, ENST00000264718.3, ENST00000264718.4, ENST00000264718.5, ENST00000264718.6, GPN1 , GPN1_HUMAN, HUSSY-23, MBDIN, O76004, Q9HCN4, RPAP4 , uc317huy.1, XAB1
UCSC ID: ENST00000264718.7_7
RefSeq Accession: NM_007266.4
Protein: Q9HCN4 (aka GPN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.