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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
  • RILP-Like Protein 1 3
  • 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 Alzheimer Disease 3 and Nominal Aphasia. An important paralog of this gene is RILP.

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.

Additional gene information for RILPL1 Gene

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

Genomics for RILPL1 Gene

GeneHancer (GH) Regulatory Elements for RILPL1 Gene

Promoters and enhancers for RILPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J123530 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 659.6 +0.9 945 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF766 SP3 RILPL1 DDX55 LOC101927415 EIF2B1 TCTN2 ENSG00000235423 C12orf65 OGFOD2 GTF2H3 ENSG00000278112
GH12J123386 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 +144.6 144640 4.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF766 E2F8 SP3 MXD4 SBNO1 CDK2AP1 ENSG00000256092 RILPL1 DNAH10 KMT5A RILPL2
GH12J123457 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 +74.8 74788 2.8 MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 SP3 MEF2D ZNF610 GLIS1 SNRNP35 PIR40920 RSRC2 DDX55 ZCCHC8 EIF2B1 KNTC1 ATP6V0A2 RILPL2 TCTN2
GH12J123265 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 +264.4 264375 7.1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 YY1 GLIS2 ZNF213 ZNF143 SP3 CDK2AP1 DDX55 C12orf65 EIF2B1 SBNO1 MPHOSPH9 TCTN2 RSRC2 ZCCHC8 RPL27P12
GH12J123444 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +88.1 88117 2.8 BCOR FOXA2 JUN ZFP64 ZNF664 CTBP1 GATA3 POLR3A ZNF157 PRDM10 RILPL1 C12orf65 ABCB9 ENSG00000256092 RILPL2 ENSG00000270445 SNRNP35
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RILPL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RILPL1 gene promoter:
  • GCNF-2
  • GCNF-1
  • GCNF
  • AML1a
  • HTF
  • AP-4
  • Max1
  • c-Myc
  • Evi-1

Genomic Locations for RILPL1 Gene

Genomic Locations for RILPL1 Gene
chr12:123,470,054-123,533,718
(GRCh38/hg38)
Size:
63,665 bases
Orientation:
Minus strand
chr12:123,955,909-124,018,265
(GRCh37/hg19)
Size:
62,357 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

Post-translational modifications for RILPL1 Gene

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

No data available for DME Specific Peptides for RILPL1 Gene

Domains & Families for RILPL1 Gene

Gene Families for RILPL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the RILPL family.
Family:
  • Belongs to the RILPL family.
genes like me logo Genes that share domains with RILPL1: view

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 From GWAS Catalog for RILPL1 Gene

Gene Ontology (GO) - Molecular Function for RILPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031267 small GTPase binding IBA --
GO:0046983 protein dimerization activity IEA --
GO:0051959 dynein light intermediate chain binding IBA --
genes like me logo Genes that share ontologies with RILPL1: view
genes like me logo Genes that share phenotypes with RILPL1: view

Animal Models for RILPL1 Gene

MGI Knock Outs for RILPL1:
  • Rilpl1 Rilpl1<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for RILPL1 Gene

miRTarBase miRNAs that target RILPL1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RILPL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RILPL1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RILPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005813 centrosome IEA,ISS --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol ISS,IDA --
genes like me logo Genes that share ontologies with RILPL1: view

Pathways & Interactions for RILPL1 Gene

SuperPathways for RILPL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RILPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003382 epithelial cell morphogenesis ISS --
GO:0015031 protein transport IEA --
GO:0060271 cilium assembly IBA --
GO:1901214 regulation of neuron death ISS,IEA --
GO:1903445 protein transport from ciliary membrane to plasma membrane IEA,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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RILPL1

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RILPL1 Gene



Protein tissue co-expression partners for RILPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RILPL1 Gene:

RILPL1

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.

Evidence on tissue expression from TISSUES for RILPL1 Gene

  • Nervous system(4.3)
  • Liver(4.1)
  • Eye(3.2)
genes like me logo Genes that share expression patterns with RILPL1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RILPL1 Gene

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 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RILPL1 34 33
  • 92.14 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RILPL1 34 33
  • 90.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rilpl1 16 34 33
  • 87.84 (n)
rat
(Rattus norvegicus)
Mammalia Rilpl1 33
  • 87.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia RILPL1 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves gga-mir-7476 34
  • 83 (a)
OneToOne
RILPL1 33
  • 76.57 (n)
lizard
(Anolis carolinensis)
Reptilia RILPL1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rilpl1 33
  • 72.31 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2738 33
zebrafish
(Danio rerio)
Actinopterygii rilpl1 34 33
  • 71.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11448 34 33
  • 55.63 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005040 33
  • 46.78 (n)
worm
(Caenorhabditis elegans)
Secernentea rilp-1 34 33
  • 44.08 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2252 34
  • 38 (a)
OneToMany
Species where no ortholog for RILPL1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RILPL1: view image

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 Variation AA Info Type
rs1000026852 -- 123,502,083(-) A/G intron_variant
rs1000128712 -- 123,495,770(-) T/A intron_variant
rs1000156269 -- 123,502,401(-) G/A intron_variant
rs1000212857 -- 123,508,629(-) T/G intron_variant
rs1000224036 -- 123,503,879(-) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
dgv886n106 CNV deletion 24896259
dgv927e59 CNV duplication 20981092
esv1489716 CNV deletion 17803354
esv2422416 CNV duplication 17116639
esv24540 CNV gain 19812545
esv2746507 CNV deletion 23290073
esv2746509 CNV deletion 23290073
esv3409514 CNV duplication 20981092
esv3630989 CNV loss 21293372
nsv1037260 CNV gain 25217958
nsv1070139 CNV deletion 25765185
nsv1122778 CNV deletion 24896259
nsv1124664 CNV duplication 24896259
nsv1142819 CNV tandem duplication 24896259
nsv1150664 CNV duplication 26484159
nsv560495 CNV loss 21841781
nsv952499 CNV deletion 24416366

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)

Additional Variant Information for RILPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
alzheimer disease 3
  • ad
nominal aphasia
  • anomia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 (Molecular biology of the cell 2004) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Enhancement by GOSPEL protein of GAPDH aggregation induced by nitric oxide donor and its inhibition by NAD(.). (PMID: 27282776) González MC … Carrizo ME (FEBS letters 2016) 3 58
  4. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. (PMID: 25201988) Rietveld CA … Koellinger PD (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 58
  5. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58

Products for RILPL1 Gene

Sources for RILPL1 Gene

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