RILP Gene
protein-coding GIFtS: 51
GCID: GC17M001549
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|
Rab interacting lysosomal protein
| |
Aliases
for RILP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Rab Interacting Lysosomal Protein1 2 | | FLJ311931 | | Rab-Interacting Lysosomal Protein2 |
Export aliases for RILP gene to outside databasesPrevious GC identifers: GC17P001625 GC17M001885 GC17M001500 GC17M001756 GC17M001732 GC17M001496 GC17M001448 |
Summaries
for RILP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RILP:
This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocyticdegradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents adownstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A uniqueregion of this protein has also been shown to be involved in the regulation of lysosomal morphology. (provided byRefSeq, Sep 2011)
UniProtKB/Swiss-Prot: RILP_HUMAN, Q96NA2Function: Rab effector playing a role in late endocytic transport to degradative compartments. Involved in theregulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes toRab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusionof phagosomes with the late endosomes and lysosomes
Gene Wiki entry for RILP
|
Genomic Views
for RILP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the RILP gene promoter:
Tal-1 AML1a Lmo2 NF-E2 p45 Nkx5-1 E47 c-Ets-1 ZID NF-E2
Other transcription factors
Search SABiosciences Chromatin IP Primers for RILP
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RILP |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.3 HGNC cytogenetic band: 17p13.3RILP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M001549: view genomic region
(about GC identifiers)
Start:
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1,549,444 bp from pter |
End:
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1,553,392 bp from pter |
Size:
|
3,949 bases |
Orientation:
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minus strand |
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Proteins
for RILP gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: RILP_HUMAN, Q96NA2 (See
protein sequence)Recommended Name: Rab-interacting lysosomal protein Size: 401 amino acids; 44200 Da
Subunit: Homodimer. Each subunit can interact with either RAB7A or RAB34. Interacts with CLN3
Subcellular location: Endomembrane system. Late endosome membrane. Lysosome membrane. Cytoplasmic vesicle, phagosomemembrane. Note=Associated with late endosomal, lysosomal and phagosomal membranes. The interaction with RAB7A isnecessary for its recruitment to phagosomes
1 PDB 3D structure from  and Proteopedia  for RILP:1YHN (3D)
Secondary accessions: B2RBQ8 Q71RE6 Q9BSL3 Q9BYS3Alternative splicing: 2 isoforms: Q96NA2-1 Q96NA2-2 Explore the universe of human proteins at neXtProt for RILP: NX_Q96NA2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96NA2
RILP Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_113618.2
ENSEMBL proteins: ENSP00000459101 ENSP00000301336 Reactome Protein details: Q96NA2
Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
RILP for ontologies About GeneDecksing
RILP Antibody Products:
Assay Products for RILP: |
Protein
Domains /
Families
for RILP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RILP for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96NA2ProtoNet protein and cluster: Q96NA2 UniProtKB/Swiss-Prot: RILP_HUMAN, Q96NA2Similarity: Contains 1 RILP-like domain |
Function
for RILP gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: RILP_HUMAN, Q96NA2Function: Rab effector playing a role in late endocytic transport to degradative compartments. Involved in theregulation of lysosomal morphology and distribution. Induces recruitment of dynein-dynactin motor complexes toRab7A-containing late endosome and lysosome compartments. Promotes centripetal migration of phagosomes and the fusionof phagosomes with the late endosomes and lysosomes
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RILP
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RILP |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
RILP for ontologies About GeneDecksing
|
Pathways & Interactions
for RILP gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Immune System | | | 2 | MHC class II antigen presentation | | | 3 | wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) | | | 4 | Phagosome | | | 5 | Clathrin-dependent protein traffic | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  GeneGo (Thomson Reuters) Pathways for RILP
4 
Reactome Pathways for RILP
1 
Kegg Pathway (Kegg details for RILP):
RILP for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RILP
STRING Interaction
Network Preview (showing 5 interactants - click image to see 23)
5/24 Interacting proteins for RILP (Q96NA23 ENSP000003013364) via UniProtKB, MINT, STRING, and/or I2D (see all 24)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008333 | endosome to lysosome transport |
IMP | 18272684 | | GO:0015031 | protein transport |
NAS | 11179213 | | GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II |
TAS | -- |
RILP for ontologies About GeneDecksing
|
Drugs & Compounds
for RILP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RILP
Search CenterWatch for drugs/clinical trials and news about RILP
|
Transcripts
for RILP gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for RILP gene: NM_031430.2 Unigene Cluster for RILP: Rab interacting lysosomal protein Hs.534497 [show with all ESTs]Unigene Representative Sequence: AJ4043174 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000574810 ENST00000301336(uc002ftd.3) ENST00000570858 ENST00000573398
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RILP (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RILP
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: RILP (NM_031430) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RILP | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RILP |
Additional cDNA sequence: AF370391.1 AJ278711.1 AJ404317.1 AK055755.1 AK314767.1 BC004961.1 BC031621.1 3 DOTS entries: DT.111171 DT.100815441 DT.91759222 24/86 AceView cDNA sequences (see all 86): BC031621 AW300471 AI470524 AI701824 BX279764 BF438317 BU753899 AK055755 AI373237 CR617608 AI341992 AI022243 AI369877 BQ948632 BC004961 BI755469 F19292 AJ278711 BM671727 BF195334 CR614924 BE501099 CR619373 AI768664
GeneLoc Exon Structure
|
Expression
for RILP gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RILP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See RILP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RILP
SOURCE GeneReport for Unigene cluster: Hs.534497
UniProtKB/Swiss-Prot: RILP_HUMAN, Q96NA2Tissue specificity: Ubiquitous. Strongly expressed in fetal heart, heart, stomach, spleen, adrenal gland, thyroidgland, salivary gland, fetal liver, liver and lung. Poorly expressed in brain
SABiosciences Expression via Pathway-Focused PCR Array including RILP:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RILP
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RILP |
Orthologs
for RILP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RILP gene from 4/17 species (see all 17) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
RILP1 |
Rab interacting lysosomal protein |
60.94(n)
50.31(a) |
|
417558 XM_415804.3 XP_415804.3 |
zebrafish
(Danio rerio) |
Actinopterygii |
CR522882.16 |
-- |
27(a) |
1 ↔ 1 |
15(27572989-27596084) |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG114486 |
-- |
15(a) |
1 → many |
X(1287087-1291370) |
worm
(Caenorhabditis elegans) |
Secernentea |
rilp-16 |
-- |
16(a) |
1 → many |
III(3636028-3643654) |
ENSEMBL Gene Tree for RILP (if available)
TreeFam Gene Tree for RILP (if available) |
Paralogs
for RILP gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RILP gene
- RILPL22 RILPL12
7 SIMAP similar genes for RILP using alignment to 4 protein entries: RILP_HUMAN (see all proteins):PRICKLE1 PRICKLE2 LMO6 PRICKLE3 LMCD1 PRICKLE4
TES
RILP for paralogs About GeneDecksing
|
Genomic Variants
for RILP gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RILP (1549444 - 1553392 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RILP
1 CNV: 72765 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RILP |
|
Disorders
/ Diseases
for RILP gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
RILP for disorders About GeneDecksing
OMIM gene information: 607848
OMIM disorders: --
9  diseases for RILP: About MalaCardsmiller-dieker syndrome lissencephaly huntington's disease cholesterol
thyroiditis prostatitis neuronitis neuronal ceroid-lipofuscinosis
ceroid lipofuscinosis
Human Genome Epidemiology (HuGE) Navigator: RILP (7 documents)
Export disorders for RILP gene to outside databases
|
Publications
for RILP gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for RILP gene, integrated from 9 sources (see all 39):
(articles sorted by number of sources associating them with RILP) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Rab-interacting lysosomal protein (RILP): the Rab7 effector required for transport to lysosomes. (PubMed id 11179213)1, 2, 3, 9 Cantalupo G.... Bucci C. (2001)
- A unique region of RILP distinguishes it from its related proteins in its regulation of lysosomal morphology and interaction with Rab7 and Rab34. (PubMed id 14668488)1, 2, 9 Wang T.... Hong W. (2004)
- Expression analysis and chromosomal assignment of PRA1 and RILP genes. (PubMed id 11520070)1, 2, 9 Bucci C.... Bruni C.B. (2001)
- Interorganellar regulation of lysosome positioning by the Golgi apparatus through Rab34 interaction with Rab-interacting lysosomal protein. (PubMed id 12475955)1, 2, 9 Wang T. and Hong W. (2002)
- The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. (PubMed id 11696325)1, 2, 9 Jordens I.... Neefjes J. (2001)
- The Rab-interacting lysosomal protein, a Rab7 and Rab34 effector, is capable of self-interaction. (PubMed id 15996637)1, 2 Colucci A.M.R.... Bucci C. (2005)
- Structural basis for recruitment of RILP by small GTPase Rab7. (PubMed id 15933719)1, 2 Wu M.... Song H. (2005)
- Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
|
External Searches for RILP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing RILP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RILP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RILP gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RILP | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RILP gene:
Search GeneIP for patents involving RILP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for RILP gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RILP | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RILP | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RILP | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RILP | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RILP | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RILP |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RILP |
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