Human Gene RAPGEFL1 (ENST00000264644.10_2) from GENCODE V47lift37
  Description: Probable guanine nucleotide exchange factor (GEF). (from UniProt Q9UHV5)
Gencode Transcript: ENST00000264644.10_2
Gencode Gene: ENSG00000108352.13_16
Transcript (Including UTRs)
   Position: hg19 chr17:38,333,348-38,351,908 Size: 18,561 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr17:38,340,485-38,350,040 Size: 9,556 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:38,333,348-38,351,908)mRNA (may differ from genome)Protein (456 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: RPGFL_HUMAN
DESCRIPTION: RecName: Full=Rap guanine nucleotide exchange factor-like 1; AltName: Full=Link guanine nucleotide exchange factor II; Short=Link GEFII;
FUNCTION: Probable guanine nucleotide exchange factor (GEF).
SIMILARITY: Contains 1 Ras-GEF domain.
SEQUENCE CAUTION: Sequence=BAG36274.1; Type=Erroneous initiation;

-  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


-  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: 123.82 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 795.65 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 -53.60190-0.282 Picture PostScript Text
3' UTR -702.601868-0.376 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
IPR008937 - Ras_GEF
IPR023578 - Ras_GEF_dom
IPR001895 - RasGRF_CDC25

Pfam Domains:
PF00617 - RasGEF domain

SCOP Domains:
48366 - Ras GEF
51569 - Aldolase
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DHZ - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9UHV5
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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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0007399 nervous system development

Cellular Component:
GO:0005622 intracellular
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK313492 - Homo sapiens cDNA, FLJ94045, Homo sapiens Link guanine nucleotide exchange factor II(Link-GEFII), mRNA.
AK304160 - Homo sapiens cDNA FLJ56384 complete cds, highly similar to Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.
BC029956 - Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1, mRNA (cDNA clone IMAGE:5174822).
AF117946 - Homo sapiens Link guanine nucleotide exchange factor II mRNA, complete cds.
JD131658 - Sequence 112682 from Patent EP1572962.
U78518 - Human cAMP-binding guanine nucleotide exchange factor III (cAMP-GEFIII) mRNA, clone 172, partial sequence.
JD137265 - Sequence 118289 from Patent EP1572962.
BC115374 - Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1, mRNA (cDNA clone MGC:134798 IMAGE:40028278), complete cds.
BC115375 - Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1, mRNA (cDNA clone MGC:134799 IMAGE:40028280), complete cds.
AK294642 - Homo sapiens cDNA FLJ58529 complete cds, highly similar to Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.
JD360445 - Sequence 341469 from Patent EP1572962.
JD303585 - Sequence 284609 from Patent EP1572962.
JD165457 - Sequence 146481 from Patent EP1572962.
JD294363 - Sequence 275387 from Patent EP1572962.
JD087255 - Sequence 68279 from Patent EP1572962.
JD540478 - Sequence 521502 from Patent EP1572962.
JD043924 - Sequence 24948 from Patent EP1572962.
JD311234 - Sequence 292258 from Patent EP1572962.
JD500457 - Sequence 481481 from Patent EP1572962.
JD419118 - Sequence 400142 from Patent EP1572962.
JD288768 - Sequence 269792 from Patent EP1572962.
JD313738 - Sequence 294762 from Patent EP1572962.
JD423481 - Sequence 404505 from Patent EP1572962.
JD431480 - Sequence 412504 from Patent EP1572962.
JD402858 - Sequence 383882 from Patent EP1572962.
JD161201 - Sequence 142225 from Patent EP1572962.
JD487202 - Sequence 468226 from Patent EP1572962.
JD108844 - Sequence 89868 from Patent EP1572962.
JD220457 - Sequence 201481 from Patent EP1572962.
JD056028 - Sequence 37052 from Patent EP1572962.
JD222240 - Sequence 203264 from Patent EP1572962.
JD273819 - Sequence 254843 from Patent EP1572962.
JD051542 - Sequence 32566 from Patent EP1572962.
JD157540 - Sequence 138564 from Patent EP1572962.
JD134846 - Sequence 115870 from Patent EP1572962.
JD269016 - Sequence 250040 from Patent EP1572962.
JD253238 - Sequence 234262 from Patent EP1572962.
JD487422 - Sequence 468446 from Patent EP1572962.
JD449088 - Sequence 430112 from Patent EP1572962.
JD038226 - Sequence 19250 from Patent EP1572962.
JD424632 - Sequence 405656 from Patent EP1572962.
JD196827 - Sequence 177851 from Patent EP1572962.
JD501163 - Sequence 482187 from Patent EP1572962.
JD325608 - Sequence 306632 from Patent EP1572962.
JD403685 - Sequence 384709 from Patent EP1572962.
JD127130 - Sequence 108154 from Patent EP1572962.
JD400783 - Sequence 381807 from Patent EP1572962.
JD210354 - Sequence 191378 from Patent EP1572962.
JD271671 - Sequence 252695 from Patent EP1572962.
JD525598 - Sequence 506622 from Patent EP1572962.
JD554595 - Sequence 535619 from Patent EP1572962.
JD380033 - Sequence 361057 from Patent EP1572962.
JD375520 - Sequence 356544 from Patent EP1572962.
JD123665 - Sequence 104689 from Patent EP1572962.
JD192632 - Sequence 173656 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AF117946, ENST00000264644.1, ENST00000264644.2, ENST00000264644.3, ENST00000264644.4, ENST00000264644.5, ENST00000264644.6, ENST00000264644.7, ENST00000264644.8, ENST00000264644.9, Q9UHV5, RPGFL_HUMAN, uc317htw.1
UCSC ID: ENST00000264644.10_2
RefSeq Accession: NM_001303534.3
Protein: Q9UHV5 (aka RPGFL_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.