RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (sum... See more...

Aliases for RALBP1 Gene

Aliases for RALBP1 Gene

  • RalA Binding Protein 1 2 3 5
  • RLIP76 2 3 4
  • Dinitrophenyl S-Glutathione ATPase 3 4
  • 76 KDa Ral-Interacting Protein 3 4
  • Ral-Interacting Protein 1 3 4
  • RalA-Binding Protein 1 3 4
  • DNP-SG ATPase 3 4
  • RLIP1 3 4
  • RIP1 2 3
  • RALBP1 5
  • RalBP1 4
  • RIP 2

External Ids for RALBP1 Gene

Previous GeneCards Identifiers for RALBP1 Gene

  • GC18P009629

Summaries for RALBP1 Gene

Entrez Gene Summary for RALBP1 Gene

  • RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]

GeneCards Summary for RALBP1 Gene

RALBP1 (RalA Binding Protein 1) is a Protein Coding gene. Diseases associated with RALBP1 include Lung Cancer. Among its related pathways are Signaling by GPCR and Regulation of CDC42 activity. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and Rac GTPase binding.

UniProtKB/Swiss-Prot Summary for RALBP1 Gene

  • Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin.

Gene Wiki entry for RALBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RALBP1 Gene

Genomics for RALBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RALBP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RALBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RALBP1

Top Transcription factor binding sites by QIAGEN in the RALBP1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • AREB6
  • p53
  • Pax-4a
  • Sp1

Genomic Locations for RALBP1 Gene

Genomic Locations for RALBP1 Gene
chr18:9,475,009-9,538,114
(GRCh38/hg38)
Size:
63,106 bases
Orientation:
Plus strand
chr18:9,475,007-9,538,114
(GRCh37/hg19)
Size:
63,108 bases
Orientation:
Plus strand

Genomic View for RALBP1 Gene

Genes around RALBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RALBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RALBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RALBP1 Gene

Proteins for RALBP1 Gene

  • Protein details for RALBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15311-RBP1_HUMAN
    Recommended name:
    RalA-binding protein 1
    Protein Accession:
    Q15311
    Secondary Accessions:
    • D3DUI0

    Protein attributes for RALBP1 Gene

    Size:
    655 amino acids
    Molecular mass:
    76063 Da
    Quaternary structure:
    • Interacts with the GTP-bound form of RALA, RALB, CDC42 and RAC1. Interacts with REPS1 and REPS2 and this does not affect the Ral-binding activity. Interacts with DAB2IP. Interacts with catalytically active CCNB1 and CDK1 during mitosis. Interacts with EPN1, NUMB and TFAP2A during interphase and mitosis.

    Three dimensional structures from OCA and Proteopedia for RALBP1 Gene

neXtProt entry for RALBP1 Gene

Post-translational modifications for RALBP1 Gene

  • Ubiquitination at Lys161
  • Modification sites at PhosphoSitePlus

Other Protein References for RALBP1 Gene

No data available for DME Specific Peptides for RALBP1 Gene

Domains & Families for RALBP1 Gene

Gene Families for RALBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for RALBP1 Gene

InterPro:
Blocks:
  • RhoGAP domain
ProtoNet:

Suggested Antigen Peptide Sequences for RALBP1 Gene

GenScript: Design optimal peptide antigens:
  • Ral-interacting protein 1 (RBP1_HUMAN)
genes like me logo Genes that share domains with RALBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RALBP1 Gene

Function for RALBP1 Gene

Molecular function for RALBP1 Gene

UniProtKB/Swiss-Prot Function:
Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin.

Phenotypes From GWAS Catalog for RALBP1 Gene

Gene Ontology (GO) - Molecular Function for RALBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 7673236
GO:0005515 protein binding IPI 9422736
GO:0017160 Ral GTPase binding IEA,IPI 7673236
GO:0022857 transmembrane transporter activity IDA 10924126
GO:0042626 ATPase activity, coupled to transmembrane movement of substances TAS 11437348
genes like me logo Genes that share ontologies with RALBP1: view
genes like me logo Genes that share phenotypes with RALBP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RALBP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RALBP1 Gene

Localization for RALBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALBP1 Gene

Membrane. Peripheral membrane protein.

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 RALBP1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
cytoskeleton 2
endosome 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RALBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA,IDA 10924126
genes like me logo Genes that share ontologies with RALBP1: view

Pathways & Interactions for RALBP1 Gene

genes like me logo Genes that share pathways with RALBP1: view

Pathways by source for RALBP1 Gene

5 GeneGo (Thomson Reuters) pathways for RALBP1 Gene
  • Cytoskeleton remodeling_RalA regulation pathway
  • Cytoskeleton remodeling_RalB regulation pathway
  • G-protein signaling_Cross-talk between Ras-family GTPases
  • G-protein signaling_Regulation of CDC42 activity
  • G-protein signaling_Regulation of RAC1 activity
3 Qiagen pathways for RALBP1 Gene
  • FGF Pathway
  • Molecular Mechanisms of Cancer
  • Ras Pathway
1 Cell Signaling Technology pathway for RALBP1 Gene
2 GeneTex pathways for RALBP1 Gene

SIGNOR curated interactions for RALBP1 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for RALBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IBA 21873635
GO:0006935 chemotaxis TAS 10848592
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction IEA,IPI 7673236
GO:0043087 regulation of GTPase activity IDA 7673236
genes like me logo Genes that share ontologies with RALBP1: view

Drugs & Compounds for RALBP1 Gene

(14) Drugs for RALBP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Transporter, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2029
Carbamazepine Approved, Investigational Pharma Transporter, substrate Inhibitor of neuronal voltage-gated Na+ channels; anticonvulsant 104
Sorafenib Approved, Investigational Pharma Transporter, substrate Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 779
Vincristine Approved, Investigational Pharma Transporter, substrate Microtubule disrupter,antitumor agent 1073
Glutathione Approved, Investigational Nutra 0

(4) Additional Compounds for RALBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RALBP1: view

Transcripts for RALBP1 Gene

mRNA/cDNA for RALBP1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALBP1

Alternative Splicing Database (ASD) splice patterns (SP) for RALBP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1:
SP2: - - -
SP3: -
SP4: - -

Relevant External Links for RALBP1 Gene

GeneLoc Exon Structure for
RALBP1

Expression for RALBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RALBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RALBP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.8) and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RALBP1 Gene



Protein tissue co-expression partners for RALBP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RALBP1

SOURCE GeneReport for Unigene cluster for RALBP1 Gene:

Hs.528993

mRNA Expression by UniProt/SwissProt for RALBP1 Gene:

Q15311-RBP1_HUMAN
Tissue specificity: Expressed ubiquitously but at low levels. Shows a strong expression in the erythrocytes.

Evidence on tissue expression from TISSUES for RALBP1 Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Bone marrow(4.4)
  • Kidney(2.8)
  • Muscle(2.8)
  • Heart(2.6)
  • Skin(2.5)
  • Intestine(2.5)
  • Pancreas(2.2)
  • Lung(2.2)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with RALBP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALBP1 Gene

Orthologs for RALBP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RALBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RALBP1 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RALBP1 30 31
  • 92.05 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia RALBP1 31
  • 92 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ralbp1 30 17 31
  • 88.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ralbp1 30
  • 87.29 (n)
Cow
(Bos Taurus)
Mammalia RALBP1 30 31
  • 85.62 (n)
OneToOne
Chicken
(Gallus gallus)
Aves RALBP1 30 31
  • 83.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RALBP1 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ralbp1 30
  • 77.86 (n)
Str.11420 30
African clawed frog
(Xenopus laevis)
Amphibia rlip1-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii ralbp1 30 31
  • 70.7 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Rlip 31 32
  • 24 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rlbp-1 31
  • 21 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGD1 31
  • 7 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToOne
Species where no ortholog for RALBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • 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 RALBP1 Gene

ENSEMBL:
Gene Tree for RALBP1 (if available)
TreeFam:
Gene Tree for RALBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RALBP1: view image

Paralogs for RALBP1 Gene

(1) SIMAP similar genes for RALBP1 Gene using alignment to 3 proteins:

  • RBP1_HUMAN
  • E7ENF8_HUMAN
  • J3QLT3_HUMAN

Pseudogenes.org Pseudogenes for RALBP1 Gene

genes like me logo Genes that share paralogs with RALBP1: view

No data available for Paralogs for RALBP1 Gene

Variants for RALBP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RALBP1 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
716581 Likely Benign: not provided 9,522,350(+) G/A SYNONYMOUS_VARIANT
747831 Benign: not provided 9,522,340(+) C/T MISSENSE_VARIANT
748072 Likely Benign: not provided 9,516,858(+) A/G SYNONYMOUS_VARIANT
748073 Likely Benign: not provided 9,535,892(+) G/A SYNONYMOUS_VARIANT
756087 Likely Benign: not provided 9,535,868(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for RALBP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RALBP1 Gene

Variant ID Type Subtype PubMed ID
nsv1056407 CNV gain 25217958
nsv833585 CNV gain+loss 17160897
nsv962485 CNV duplication 23825009
nsv978599 CNV duplication 23825009

Variation tolerance for RALBP1 Gene

Residual Variation Intolerance Score: 14.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RALBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RALBP1 Gene

Disorders for RALBP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RALBP1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
lung cancer
  • adenocarcinoma of lung
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALBP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RALBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RALBP1 Gene

Publications for RALBP1 Gene

  1. Bridging Ral GTPase to Rho pathways. RLIP76, a Ral effector with CDC42/Rac GTPase-activating protein activity. (PMID: 7673236) Jullien-Flores V … Camonis JH (The Journal of biological chemistry 1995) 2 3 4 23
  2. The association between polymorphisms in RLIP76 and drug response in epilepsy. (PMID: 18086001) Leschziner GD … Pirmohamed M (Pharmacogenomics 2007) 3 23 41
  3. AIP1/DAB2IP, a novel member of the Ras-GAP family, transduces TRAF2-induced ASK1-JNK activation. (PMID: 15310755) Zhang H … Min W (The Journal of biological chemistry 2004) 3 4 23
  4. RLIP76 is the major ATP-dependent transporter of glutathione-conjugates and doxorubicin in human erythrocytes. (PMID: 11437348) Sharma R … Awasthi YC (Archives of biochemistry and biophysics 2001) 3 4 23
  5. Novel function of human RLIP76: ATP-dependent transport of glutathione conjugates and doxorubicin. (PMID: 10924126) Awasthi S … Awasthi YC (Biochemistry 2000) 3 4 23

Products for RALBP1 Gene

  • Signalway ELISA kits for RALBP1

Sources for RALBP1 Gene