Human Gene SIPA1L3 (ENST00000222345.11_4) from GENCODE V47lift37
  Description: signal induced proliferation associated 1 like 3 (from RefSeq NM_015073.3)
Gencode Transcript: ENST00000222345.11_4
Gencode Gene: ENSG00000105738.11_12
Transcript (Including UTRs)
   Position: hg19 chr19:38,397,848-38,699,009 Size: 301,162 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr19:38,572,206-38,696,880 Size: 124,675 Coding Exon Count: 20 

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 (chr19:38,397,848-38,699,009)mRNA (may differ from genome)Protein (1781 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SI1L3_HUMAN
DESCRIPTION: RecName: Full=Signal-induced proliferation-associated 1-like protein 3; Short=SIPA1-like protein 3; AltName: Full=SPA-1-like protein 3;
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 1 Rap-GAP domain.

-  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: SIPA1L3
Diseases sorted by gene-association score: cataract 45* (969), cataract 44* (143)
* = Manually curated disease association

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

+  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: 9.58 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 163.27 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 -242.10529-0.458 Picture PostScript Text
3' UTR -827.802129-0.389 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
IPR021818 - DUF3401
IPR001478 - PDZ
IPR000331 - Rap_GAP

Pfam Domains:
PF02145 - Rap/ran-GAP
PF11881 - C-terminal domain of SPAR protein

SCOP Domains:
50156 - PDZ domain-like
50729 - PH domain-like
111347 - Rap/Ran-GAP

ModBase Predicted Comparative 3D Structure on O60292
FrontTopSide
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    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

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

Biological Process:
GO:0001654 eye development
GO:0002244 hematopoietic progenitor cell differentiation
GO:0003382 epithelial cell morphogenesis
GO:0007010 cytoskeleton organization
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0090162 establishment of epithelial cell polarity

Cellular Component:
GO:0001725 stress fiber
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0045177 apical part of cell
GO:0061689 tricellular tight junction


-  Descriptions from all associated GenBank mRNAs
  BC150620 - Homo sapiens signal-induced proliferation-associated 1 like 3, mRNA (cDNA clone MGC:183530 IMAGE:9056990), complete cds.
BC036863 - Homo sapiens signal-induced proliferation-associated 1 like 3, mRNA (cDNA clone IMAGE:5203416), partial cds.
AY168880 - Homo sapiens SPA-1-like 3 (SPAL3) mRNA, complete cds.
KJ898443 - Synthetic construct Homo sapiens clone ccsbBroadEn_07837 SIPA1L3 gene, encodes complete protein.
AB011117 - Homo sapiens mRNA for KIAA0545 protein, partial cds.
JD056188 - Sequence 37212 from Patent EP1572962.
JD189472 - Sequence 170496 from Patent EP1572962.
JD124902 - Sequence 105926 from Patent EP1572962.
JD144327 - Sequence 125351 from Patent EP1572962.
JD210977 - Sequence 192001 from Patent EP1572962.
JD424001 - Sequence 405025 from Patent EP1572962.
JD418748 - Sequence 399772 from Patent EP1572962.
JD418462 - Sequence 399486 from Patent EP1572962.
JD132221 - Sequence 113245 from Patent EP1572962.
JD087907 - Sequence 68931 from Patent EP1572962.
JD231735 - Sequence 212759 from Patent EP1572962.
JD191272 - Sequence 172296 from Patent EP1572962.
JD437125 - Sequence 418149 from Patent EP1572962.
JD199808 - Sequence 180832 from Patent EP1572962.
JD406350 - Sequence 387374 from Patent EP1572962.
JD256868 - Sequence 237892 from Patent EP1572962.
JD256869 - Sequence 237893 from Patent EP1572962.
JD407727 - Sequence 388751 from Patent EP1572962.
JD464139 - Sequence 445163 from Patent EP1572962.
JD473161 - Sequence 454185 from Patent EP1572962.
JD397969 - Sequence 378993 from Patent EP1572962.
JD391821 - Sequence 372845 from Patent EP1572962.
JD341489 - Sequence 322513 from Patent EP1572962.
JD128608 - Sequence 109632 from Patent EP1572962.
JD382595 - Sequence 363619 from Patent EP1572962.
JD368821 - Sequence 349845 from Patent EP1572962.
JD065777 - Sequence 46801 from Patent EP1572962.
JD075371 - Sequence 56395 from Patent EP1572962.
JD486059 - Sequence 467083 from Patent EP1572962.
JD516260 - Sequence 497284 from Patent EP1572962.
JD518181 - Sequence 499205 from Patent EP1572962.
JD211538 - Sequence 192562 from Patent EP1572962.
JD409646 - Sequence 390670 from Patent EP1572962.
JD137898 - Sequence 118922 from Patent EP1572962.
JD418764 - Sequence 399788 from Patent EP1572962.
JD440288 - Sequence 421312 from Patent EP1572962.
JD292285 - Sequence 273309 from Patent EP1572962.
JD199379 - Sequence 180403 from Patent EP1572962.
JD566977 - Sequence 548001 from Patent EP1572962.
JD549053 - Sequence 530077 from Patent EP1572962.
JD259660 - Sequence 240684 from Patent EP1572962.
JD426405 - Sequence 407429 from Patent EP1572962.
JD514733 - Sequence 495757 from Patent EP1572962.
JD073593 - Sequence 54617 from Patent EP1572962.
JD218815 - Sequence 199839 from Patent EP1572962.
JD514329 - Sequence 495353 from Patent EP1572962.
JD336644 - Sequence 317668 from Patent EP1572962.
JD191592 - Sequence 172616 from Patent EP1572962.
JD267912 - Sequence 248936 from Patent EP1572962.
JD456049 - Sequence 437073 from Patent EP1572962.
JD294538 - Sequence 275562 from Patent EP1572962.
JD208408 - Sequence 189432 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000222345.1, ENST00000222345.10, ENST00000222345.2, ENST00000222345.3, ENST00000222345.4, ENST00000222345.5, ENST00000222345.6, ENST00000222345.7, ENST00000222345.8, ENST00000222345.9, KIAA0545, NM_015073, O60292, Q2TV87, SI1L3_HUMAN, SPAL3, uc317den.1, uc317den.2
UCSC ID: ENST00000222345.11_4
RefSeq Accession: NM_015073.3
Protein: O60292 (aka SI1L3_HUMAN or SIL3_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.