Human Gene RILPL1 (ENST00000376874.9_11) from GENCODE V47lift37
  Description: Rab interacting lysosomal protein like 1, transcript variant 1 (from RefSeq NM_178314.5)
Gencode Transcript: ENST00000376874.9_11
Gencode Gene: ENSG00000188026.13_14
Transcript (Including UTRs)
   Position: hg19 chr12:123,954,601-124,018,266 Size: 63,666 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr12:123,957,085-124,018,029 Size: 60,945 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq 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 (chr12:123,954,601-124,018,266)mRNA (may differ from genome)Protein (403 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RIPL1_HUMAN
DESCRIPTION: RecName: Full=RILP-like protein 1; AltName: Full=Rab-interacting lysosomal-like protein 1;
FUNCTION: Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus. Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution.
SUBUNIT: Interacts (when S-nitrosylated) with GAPDH (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytosol.
TISSUE SPECIFICITY: Widely expressed. Expressed at lower level in liver and kidney.
PTM: S-nitrosylation is required for the interaction with GAPDH (By similarity).
SIMILARITY: Belongs to the RILPL family.
SIMILARITY: Contains 1 RILP-like 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: RILPL1
Diseases sorted by gene-association score: alzheimer disease, type 3 (4), nominal aphasia (1)

-  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: 20.84 RPKM in Heart - Atrial Appendage
Total median expression: 295.45 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -122.90237-0.519 Picture PostScript Text
3' UTR -966.602484-0.389 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
IPR019143 - JNK/Rab-associated_protein-1_N
IPR021563 - RILP

Pfam Domains:
PF09744 - JNK_SAPK-associated protein-1
PF11461 - Rab interacting lysosomal protein

SCOP Domains:
161256 - RILP dimerisation region

ModBase Predicted Comparative 3D Structure on Q5EBL4
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0031267 small GTPase binding
GO:0046983 protein dimerization activity
GO:0051959 dynein light intermediate chain binding

Biological Process:
GO:0003382 epithelial cell morphogenesis
GO:0015031 protein transport
GO:0060271 cilium assembly
GO:1901214 regulation of neuron death
GO:1903445 protein transport from ciliary membrane to plasma membrane

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0036064 ciliary basal body
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC080626 - Homo sapiens Rab interacting lysosomal protein-like 1, mRNA (cDNA clone MGC:99793 IMAGE:6339887), complete cds.
BC089444 - Homo sapiens Rab interacting lysosomal protein-like 1, mRNA (cDNA clone MGC:105128 IMAGE:30559974), complete cds.
AK096697 - Homo sapiens cDNA FLJ39378 fis, clone PERIC2000214.
JD212297 - Sequence 193321 from Patent EP1572962.
JD522400 - Sequence 503424 from Patent EP1572962.
JD288963 - Sequence 269987 from Patent EP1572962.
JD328347 - Sequence 309371 from Patent EP1572962.
JD120783 - Sequence 101807 from Patent EP1572962.
JD172050 - Sequence 153074 from Patent EP1572962.
JD086845 - Sequence 67869 from Patent EP1572962.
JD197229 - Sequence 178253 from Patent EP1572962.
JD295544 - Sequence 276568 from Patent EP1572962.
BC041375 - Homo sapiens hypothetical protein FLJ39378, mRNA (cDNA clone IMAGE:5274527).
JD418696 - Sequence 399720 from Patent EP1572962.
JD457780 - Sequence 438804 from Patent EP1572962.
JD495500 - Sequence 476524 from Patent EP1572962.
CU687352 - Synthetic construct Homo sapiens gateway clone IMAGE:100023155 5' read FLJ39378 mRNA.
JD307615 - Sequence 288639 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000376874.1, ENST00000376874.2, ENST00000376874.3, ENST00000376874.4, ENST00000376874.5, ENST00000376874.6, ENST00000376874.7, ENST00000376874.8, NM_178314, Q5EBL4, Q66K36, Q8N1M0, RIPL1_HUMAN, RLP1, uc318nfx.1, uc318nfx.2
UCSC ID: ENST00000376874.9_11
RefSeq Accession: NM_178314.5
Protein: Q5EBL4 (aka RIPL1_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.