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Aliases for RILPL1 Gene

Aliases for RILPL1 Gene

  • Rab Interacting Lysosomal Protein-Like 1 2 3 5
  • RLP1 3 4
  • GAPDH Competitor Of SIAH Protein Enhances Life 3
  • Rab-Interacting Lysosomal-Like Protein 1 4
  • GOSPEL 3

External Ids for RILPL1 Gene

Previous GeneCards Identifiers for RILPL1 Gene

  • GC12M122522
  • GC12M123955
  • GC12M120917

Summaries for RILPL1 Gene

GeneCards Summary for RILPL1 Gene

RILPL1 (Rab Interacting Lysosomal Protein-Like 1) is a Protein Coding gene. Diseases associated with RILPL1 include dyskinesia of esophagus and nominal aphasia. An important paralog of this gene is RILPL2.

UniProtKB/Swiss-Prot for RILPL1 Gene

  • Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport, including protein transport away from primary cilia. 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.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RILPL1 Gene

Genomics for RILPL1 Gene

Regulatory Elements for RILPL1 Gene

Promoters for RILPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RILPL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RILPL1 Gene

Chromosome:
12
Start:
123,470,054 bp from pter
End:
123,533,718 bp from pter
Size:
63,665 bases
Orientation:
Minus strand

Genomic View for RILPL1 Gene

Genes around RILPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RILPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RILPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RILPL1 Gene

Proteins for RILPL1 Gene

  • Protein details for RILPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5EBL4-RIPL1_HUMAN
    Recommended name:
    RILP-like protein 1
    Protein Accession:
    Q5EBL4
    Secondary Accessions:
    • Q66K36
    • Q8N1M0

    Protein attributes for RILPL1 Gene

    Size:
    403 amino acids
    Molecular mass:
    47108 Da
    Quaternary structure:
    • Interacts (when S-nitrosylated) with GAPDH.

    Alternative splice isoforms for RILPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RILPL1 Gene

Proteomics data for RILPL1 Gene at MOPED

Post-translational modifications for RILPL1 Gene

  • S-nitrosylation is required for the interaction with GAPDH.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RILPL1 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for RILPL1

No data available for DME Specific Peptides for RILPL1 Gene

Domains & Families for RILPL1 Gene

Protein Domains for RILPL1 Gene

Suggested Antigen Peptide Sequences for RILPL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5EBL4

UniProtKB/Swiss-Prot:

RIPL1_HUMAN :
  • Contains 1 RH1 domain.
  • Belongs to the RILPL family.
Domain:
  • Contains 1 RH1 domain.
  • Contains 1 RH2 domain.
Family:
  • Belongs to the RILPL family.
genes like me logo Genes that share domains with RILPL1: view

No data available for Gene Families for RILPL1 Gene

Function for RILPL1 Gene

Molecular function for RILPL1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of cell shape and polarity. Plays a role in cellular protein transport, including protein transport away from primary cilia. 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.

Phenotypes for RILPL1 Gene

genes like me logo Genes that share phenotypes with RILPL1: view

Animal Models for RILPL1 Gene

MGI Knock Outs for RILPL1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RILPL1 Gene

Localization for RILPL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RILPL1 Gene

Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RILPL1 Gene COMPARTMENTS Subcellular localization image for RILPL1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for RILPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IEA,ISS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with RILPL1: view

Pathways & Interactions for RILPL1 Gene

SuperPathways for RILPL1 Gene

No Data Available

Interacting Proteins for RILPL1 Gene

Gene Ontology (GO) - Biological Process for RILPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003382 epithelial cell morphogenesis ISS --
genes like me logo Genes that share ontologies with RILPL1: view

No data available for Pathways by source and SIGNOR curated interactions for RILPL1 Gene

Drugs & Compounds for RILPL1 Gene

No Compound Related Data Available

Transcripts for RILPL1 Gene

Unigene Clusters for RILPL1 Gene

Rab interacting lysosomal protein-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RILPL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5:
SP6: -

Relevant External Links for RILPL1 Gene

GeneLoc Exon Structure for
RILPL1
ECgene alternative splicing isoforms for
RILPL1

Expression for RILPL1 Gene

mRNA expression in normal human tissues for RILPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RILPL1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.7) and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for RILPL1 Gene

This gene is overexpressed in Bone marrow stromal cell (16.9) and Urinary Bladder (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RILPL1 Gene



SOURCE GeneReport for Unigene cluster for RILPL1 Gene Hs.530315

mRNA Expression by UniProt/SwissProt for RILPL1 Gene

Q5EBL4-RIPL1_HUMAN
Tissue specificity: Widely expressed. Expressed at lower level in liver and kidney.
genes like me logo Genes that share expression patterns with RILPL1: view

Protein tissue co-expression partners for RILPL1 Gene

Primer Products

In Situ Assay Products

Orthologs for RILPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RILPL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RILPL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RILPL1 36
  • 96 (a)
OneToOne
RILPL1 35
  • 90.32 (n)
  • 95.29 (a)
dog
(Canis familiaris)
Mammalia RILPL1 35
  • 92.14 (n)
  • 96.77 (a)
RILPL1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rilpl1 36
  • 93 (a)
OneToOne
Rilpl1 16
Rilpl1 35
  • 87.84 (n)
  • 93.55 (a)
oppossum
(Monodelphis domestica)
Mammalia RILPL1 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rilpl1 35
  • 87.76 (n)
  • 93.8 (a)
chicken
(Gallus gallus)
Aves RILPL1 35
  • 76.57 (n)
  • 84.38 (a)
gga-mir-7476 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RILPL1 36
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.2738 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rilpl1 35
  • 72.31 (n)
  • 80.77 (a)
zebrafish
(Danio rerio)
Actinopterygii rilpl1 36
  • 68 (a)
OneToOne
rilpl1 35
  • 71.17 (n)
  • 68.83 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005040 35
  • 46.78 (n)
  • 32.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11448 36
  • 22 (a)
OneToMany
CG11448 35
  • 55.63 (n)
  • 38.43 (a)
worm
(Caenorhabditis elegans)
Secernentea rilp-1 35
  • 44.08 (n)
  • 35.53 (a)
rilp-1 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 36
  • 38 (a)
OneToMany
Species with no ortholog for RILPL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RILPL1 Gene

ENSEMBL:
Gene Tree for RILPL1 (if available)
TreeFam:
Gene Tree for RILPL1 (if available)

Paralogs for RILPL1 Gene

Paralogs for RILPL1 Gene

genes like me logo Genes that share paralogs with RILPL1: view

Variants for RILPL1 Gene

Sequence variations from dbSNP and Humsavar for RILPL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs2048615 -- 123,526,738(-) CTTGC(A/G)CCCTC intron-variant
rs2063629 -- 123,522,295(-) GCTGT(A/G)GGCGG intron-variant, upstream-variant-2KB
rs4078291 -- 123,491,038(-) GCATG(A/G)TGGCT intron-variant
rs7298068 -- 123,531,285(+) GAACA(C/T)TTTCC intron-variant
rs7298959 -- 123,526,031(+) ccagg(C/T)gcagt intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RILPL1 Gene

Variant ID Type Subtype PubMed ID
esv2746507 CNV Deletion 23290073
esv1489716 CNV Deletion 17803354
esv2746509 CNV Deletion 23290073
esv2422416 CNV Duplication 17116639
esv24540 CNV Gain 19812545

Variation tolerance for RILPL1 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RILPL1 Gene

HapMap Linkage Disequilibrium report
RILPL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RILPL1 Gene

Disorders for RILPL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RILPL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dyskinesia of esophagus
  • dyskinesia of oesophagus
nominal aphasia
  • anomia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RILPL1

Genetic Association Database (GAD)
RILPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RILPL1
genes like me logo Genes that share disorders with RILPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RILPL1 Gene

Publications for RILPL1 Gene

  1. A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PMID: 14668488) Wang T. … Hong W. (Mol. Biol. Cell 2004) 2 3 4 67
  2. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld C.A. … Koellinger P.D. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  3. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for RILPL1 Gene

Sources for RILPL1 Gene

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