Human Gene SIPA1 (ENST00000527525.5) from GENCODE V44
  Description: Contains 1 PDZ (DHR) domain. (from UniProt F6RY50)
RefSeq Summary (NM_006747): The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000527525.5
Gencode Gene: ENSG00000213445.10
Transcript (Including UTRs)
   Position: hg38 chr11:65,639,866-65,650,880 Size: 11,015 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg38 chr11:65,640,922-65,650,715 Size: 9,794 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:65,639,866-65,650,880)mRNA (may differ from genome)Protein (940 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMalacardsMGIPubMedUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: F6RY50_HUMAN
DESCRIPTION: SubName: Full=Signal-induced proliferation-associated protein 1;
SIMILARITY: Contains 1 PDZ (DHR) domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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: SIPA1
Diseases sorted by gene-association score: juvenile myelomonocytic leukemia (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 76.62 RPKM in Whole Blood
Total median expression: 657.30 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 -99.50247-0.403 Picture PostScript Text
3' UTR -55.40165-0.336 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
IPR001478 - PDZ
IPR000331 - Rap_GAP

Pfam Domains:
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF02145 - Rap/ran-GAP

ModBase Predicted Comparative 3D Structure on F6RY50
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity

Biological Process:
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction


-  Descriptions from all associated GenBank mRNAs
  LF211174 - JP 2014500723-A/18677: Polycomb-Associated Non-Coding RNAs.
MA446751 - JP 2018138019-A/18677: Polycomb-Associated Non-Coding RNAs.
AF029789 - Homo sapiens GTPase-activating protein (SIPA1) mRNA, complete cds.
AK308234 - Homo sapiens cDNA, FLJ98182.
BC110353 - Homo sapiens signal-induced proliferation-associated 1, mRNA (cDNA clone MGC:102688 IMAGE:5223107), complete cds.
BC010492 - Homo sapiens signal-induced proliferation-associated 1, mRNA (cDNA clone MGC:17037 IMAGE:3048253), complete cds.
AK303551 - Homo sapiens cDNA FLJ60386 complete cds, moderately similar to Signal-induced proliferation-associated protein 1.
AB005666 - Homo sapiens mRNA for GTPase-activating protein, complete cds.
JD372477 - Sequence 353501 from Patent EP1572962.
JD468283 - Sequence 449307 from Patent EP1572962.
AK310068 - Homo sapiens cDNA, FLJ17110.
JD379278 - Sequence 360302 from Patent EP1572962.
JD383480 - Sequence 364504 from Patent EP1572962.
JD389341 - Sequence 370365 from Patent EP1572962.
AB384994 - Synthetic construct DNA, clone: pF1KB4875, Homo sapiens SIPA1 gene for signal-induced proliferation-associated protein 1, complete cds, without stop codon, in Flexi system.
LF344404 - JP 2014500723-A/151907: Polycomb-Associated Non-Coding RNAs.
MA579981 - JP 2018138019-A/151907: Polycomb-Associated Non-Coding RNAs.
JD025374 - Sequence 6398 from Patent EP1572962.
JD027940 - Sequence 8964 from Patent EP1572962.
JD534758 - Sequence 515782 from Patent EP1572962.
DQ571851 - Homo sapiens piRNA piR-31963, complete sequence.
LF344401 - JP 2014500723-A/151904: Polycomb-Associated Non-Coding RNAs.
MA579978 - JP 2018138019-A/151904: Polycomb-Associated Non-Coding RNAs.
LF344400 - JP 2014500723-A/151903: Polycomb-Associated Non-Coding RNAs.
MA579977 - JP 2018138019-A/151903: Polycomb-Associated Non-Coding RNAs.
LF344399 - JP 2014500723-A/151902: Polycomb-Associated Non-Coding RNAs.
MA579976 - JP 2018138019-A/151902: Polycomb-Associated Non-Coding RNAs.
LF344398 - JP 2014500723-A/151901: Polycomb-Associated Non-Coding RNAs.
MA579975 - JP 2018138019-A/151901: Polycomb-Associated Non-Coding RNAs.
JD396676 - Sequence 377700 from Patent EP1572962.
JD318745 - Sequence 299769 from Patent EP1572962.
JD191716 - Sequence 172740 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04670 - Leukocyte transendothelial migration

-  Other Names for This Gene
  Alternate Gene Symbols: AK303551, ENST00000527525.1, ENST00000527525.2, ENST00000527525.3, ENST00000527525.4, F6RY50, F6RY50_HUMAN, uc010rom.1, uc010rom.2
UCSC ID: ENST00000527525.5
RefSeq Accession: NM_006747
Protein: F6RY50

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