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This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in m... See more...
Aliases for RANBP1 Gene
Aliases for RANBP1 Gene
External Ids for RANBP1 Gene
- HGNC: 9847
- NCBI Entrez Gene: 5902
- Ensembl: ENSG00000099901
- OMIM®: 601180
- UniProtKB/Swiss-Prot: P43487
Previous GeneCards Identifiers for RANBP1 Gene
- GC22P017045
- GC22P018478
- GC22P018479
- GC22P020103
- GC22P003725
Summaries for RANBP1 Gene
-
This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GeneCards Summary for RANBP1 Gene
RANBP1 (RAN Binding Protein 1) is a Protein Coding gene. Diseases associated with RANBP1 include Digeorge Syndrome and Ichthyosis, Congenital, Autosomal Recessive 9. Among its related pathways are E2F transcription factor network and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and GDP-dissociation inhibitor activity. An important paralog of this gene is RANBP2.
UniProtKB/Swiss-Prot Summary for RANBP1 Gene
-
Plays a role in RAN-dependent nucleocytoplasmic transport. Alleviates the TNPO1-dependent inhibition of RAN GTPase activity and mediates the dissociation of RAN from proteins involved in transport into the nucleus (By similarity). Induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). Promotes the disassembly of the complex formed by RAN and importin beta. Promotes dissociation of RAN from a complex with KPNA2 and CSE1L (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis via its effect on RAN (PubMed:17671426). Does not increase the RAN GTPase activity by itself, but increases GTP hydrolysis mediated by RANGAP1 (PubMed:7882974). Inhibits RCC1-dependent exchange of RAN-bound GDP by GTP (PubMed:7882974, PubMed:7616957).
Additional gene information for RANBP1 Gene
- HGNC (9847)
- NCBI Entrez Gene (5902)
- Ensembl (ENSG00000099901)
- OMIM® (601180)
- UniProtKB/Swiss-Prot (P43487)
- Open Targets Platform(ENSG00000099901)
- Monarch Initiative
- Search for RANBP1 at DataMed
- Search for RANBP1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RANBP1 Gene
Genomics for RANBP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RANBP1 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 RANBP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RANBP1
- Top Transcription factor binding sites by QIAGEN in the RANBP1 gene promoter:
-
- c-Myc
- CREB
- deltaCREB
- Pax-5
- Spz1
- SRF
- SRF (504 AA)
- YY1
Genomic Locations for RANBP1 Gene
Latest Assembly
- chr22:20,115,938-20,127,355
- (GRCh38/hg38)
- Size:
- 11,418 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:20,103,627-20,114,878
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 11,252 bases
- Orientation:
- Plus strand
- chr22:20,103,461-20,114,878
- (GRCh37/hg19 by Ensembl)
- Size:
- 11,418 bases
- Orientation:
- Plus strand
Genomic View for RANBP1 Gene
Genes around RANBP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q11.21 by HGNC
- 22q11.21 by Entrez Gene
- 22q11.21 by Ensembl
RANBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RANBP1 Gene
Proteins for RANBP1 Gene
-
Protein details for RANBP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P43487-RANG_HUMAN
- Recommended name:
- Ran-specific GTPase-activating protein
- Protein Accession:
- P43487
- Q53EY3
Protein attributes for RANBP1 Gene
- Size:
- 201 amino acids
- Molecular mass:
- 23310 Da
- Quaternary structure:
-
- Interacts with RAN (via C-terminus of GTP-bound form) but not with GDP-bound RAN (PubMed:7882974, PubMed:7891706, PubMed:8896452). Identified in a complex composed of RAN, RANGAP1 and RANBP1 (PubMed:16428860, PubMed:11832950). Identified in a complex that contains TNPO1, RAN and RANBP1. Identified in a complex that contains CSE1L, KPNA2, RAN and RANBP1 (By similarity). Identified in a complex with nucleotide-free RAN and RCC1 (PubMed:7882974, PubMed:7616957).
Protein Expression for RANBP1 Gene
Post-translational modifications for RANBP1 Gene
Other Protein References for RANBP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences RANBP1 Antibody (LS-B9188) and RANBP1 Antibody (LS-B12711)
- G Biosciences Immunotag™ RANBP1 Antibody
- NSJ Bioreagents RanBP1 Antibody
- Novus Biologicals Antibodies for RANBP1
-
Abcam antibodies for RANBP1
- Invitrogen Antibodies for RANBP1 (AFLGC-RANBP1)
-
Boster Bio Antibodies for RANBP1
-
Custom Antibody ServicesProSci Antibodies for RANBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for RANBP1
Protein products for research
-
OriGene Purified Proteins for RANBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for RANBP1
- Origene Custom Protein Services for RANBP1
- ProSpec Recombinant Proteins for RANBP1
- antibodies-online: Show 9 available RANBP1 Proteins ranked by validation data
- Compare Top RANBP1 Proteins
-
Quality Products:
-
Abcam proteins for RANBP1
Assay products for research
-
Abcam assays for RANBP1
No data available for DME Specific Peptides for RANBP1 Gene
Domains & Families for RANBP1 Gene
Gene Families for RANBP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for RANBP1 Gene
- InterPro:
- Blocks:
-
- RanBP1 domain
- ProtoNet:
Suggested Antigen Peptide Sequences for RANBP1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ40340 fis, clone TESTI2032681, moderately similar to RAN-SPECIFIC GTPASE-ACTIVATING PROTEIN (B3KUP2_HUMAN)
- cDNA FLJ54173, highly similar to Ran-specific GTPase-activating protein (B7Z6U1_HUMAN)
- RAN binding protein 1, isoform CRA_b (D3DX26_HUMAN)
- Ran-binding protein 1 (RANG_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P43487- Family:
-
- Belongs to the RANBP1 family.
Function for RANBP1 Gene
Molecular function for RANBP1 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role in RAN-dependent nucleocytoplasmic transport. Alleviates the TNPO1-dependent inhibition of RAN GTPase activity and mediates the dissociation of RAN from proteins involved in transport into the nucleus (By similarity). Induces a conformation change in the complex formed by XPO1 and RAN that triggers the release of the nuclear export signal of cargo proteins (PubMed:20485264). Promotes the disassembly of the complex formed by RAN and importin beta. Promotes dissociation of RAN from a complex with KPNA2 and CSE1L (By similarity). Required for normal mitotic spindle assembly and normal progress through mitosis via its effect on RAN (PubMed:17671426). Does not increase the RAN GTPase activity by itself, but increases GTP hydrolysis mediated by RANGAP1 (PubMed:7882974). Inhibits RCC1-dependent exchange of RAN-bound GDP by GTP (PubMed:7882974, PubMed:7616957).
- GENATLAS Biochemistry:
- Ran (Ras-related small nuclear protein) binding protein 1,stimulating Ran GAP1-induced GTP hydrolysis by RAS-related protein Ran/TC4,also,in absence of RAS-GAP negative regulator of the regulator of chromosome condensation (CHC1L) in association with Ran/TC4
Phenotypes From GWAS Catalog for RANBP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005092 | GDP-dissociation inhibitor activity | IMP | 7616957 |
| GO:0005096 | contributes_to GTPase activator activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 7616957 |
| GO:0031267 | small GTPase binding | TAS | -- |
| GO:0045296 | cadherin binding | HDA | 25468996 |
Phenotypes for RANBP1 Gene
- MGI mutant phenotypes for RANBP1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for RANBP1:
Animal Models for RANBP1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RANBP1 - Starting at $85 >
- * RANBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RANBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RANBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RANBP1
miRNA for RANBP1 Gene
- miRTarBase miRNAs that target RANBP1
-
- hsa-miR-24-3p (MIRT050368)
- hsa-miR-6083 (MIRT573561)
- hsa-miR-623 (MIRT573562)
- hsa-miR-190a-3p (MIRT573563)
- hsa-miR-6780b-3p (MIRT573564)
- hsa-miR-4780 (MIRT573565)
- hsa-miR-4277 (MIRT573566)
- hsa-miR-584-3p (MIRT573567)
- hsa-miR-410-3p (MIRT573568)
- hsa-miR-5584-3p (MIRT573569)
- hsa-miR-3646 (MIRT573570)
- hsa-miR-6507-5p (MIRT573571)
- hsa-miR-3662 (MIRT573572)
- hsa-miR-186-5p (MIRT573573)
- hsa-miR-548c-3p (MIRT573574)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RANBP1
- Browse OriGene Inhibitory RNA Products For RANBP1
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Clone products for research
- Applied Biological Materials (abm): Clones for RANBP1 - Starting at $45 >
- * RANBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RANBP1
- Addgene plasmids for RANBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RANBP1
Cell Lines for research
-
Horizon Cell Lines for RANBP1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RANBP1 Gene
Localization for RANBP1 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| cytoskeleton | 4 |
| nucleus | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS | 16130169 |
| GO:0005635 | nuclear envelope | TAS | -- |
| GO:0005643 | nuclear pore | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA,TAS | 16130169 |
| GO:0005813 | centrosome | IBA | 21873635 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for RANBP1 Gene
Pathways & Interactions for RANBP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Life Cycle |
.91
.64
|
.45
|
| 2 | Transport of the SLBP independent Mature mRNA | ||
| 3 | Cytoskeletal Signaling | ||
| 4 | Human T-cell leukemia virus 1 infection | ||
| 5 | Viral carcinogenesis | ||
Pathways by source for RANBP1 Gene
1 BioSystems pathway for RANBP1 Gene
8 Reactome pathways for RANBP1 Gene
2 KEGG pathways for RANBP1 Gene
2 Qiagen pathways for RANBP1 Gene
- Ran Pathway
- SUMO Pathway
1 Cell Signaling Technology pathway for RANBP1 Gene
Interacting Proteins for RANBP1 Gene
Selected Interacting proteins:
P43487-RANG_HUMAN
ENSP00000401564
for RANBP1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for RANBP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007051 | spindle organization | IEA | -- |
| GO:0007165 | signal transduction | TAS | 16130169 |
| GO:0010976 | positive regulation of neuron projection development | IEA | -- |
| GO:0016032 | viral process | TAS | -- |
| GO:0035690 | cellular response to drug | IEA | -- |
No data available for SIGNOR curated interactions for RANBP1 Gene
Drugs & Compounds for RANBP1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for RANBP1 Gene
mRNA/cDNA for RANBP1 Gene
- 4 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000331821 837 nts (view in UCSC)
- ENST00000402752 1132 nts (view in UCSC)
- ENST00000411892 584 nts (view in UCSC)
- ENST00000416427 645 nts (view in UCSC)
- ENST00000418705 932 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RANBP1 - Starting at $85 >
- * RANBP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RANBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RANBP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RANBP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RANBP1
- Browse OriGene Inhibitory RNA Products For RANBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP1
Clone products for research
- Applied Biological Materials (abm): Clones for RANBP1 - Starting at $45 >
- * RANBP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for RANBP1
- Addgene plasmids for RANBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RANBP1
Relevant External Links for RANBP1 Gene
- GeneLoc Exon Structure for
- RANBP1
Expression for RANBP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
This gene is overexpressed in Bone (22.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RANBP1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RANBP1
SOURCE GeneReport for Unigene cluster for RANBP1 Gene:
Hs.24763Evidence on tissue expression from TISSUES for RANBP1 Gene
- Liver(4.6)
- Heart(4.5)
- Blood(4.4)
- Nervous system(3.5)
- Lung(3)
- Kidney(2.7)
- Intestine(2.7)
- Spleen(2.6)
- Muscle(2.5)
- Skin(2.3)
- Lymph node(2)
Primer products for research
-
OriGene qPCR primer pairs for RANBP1
-
OriGene qPCR primer pairs and template standards for RANBP1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RANBP1 Gene
Orthologs for RANBP1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RANBP1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RANBP1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ranbp1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ranbp1 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | RANBP1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RANBP1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RANBP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RANBP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RANBP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ranbp1 30 |
|
||
| MGC76028 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | ranbp1 30 31 |
|
OneToOne | |
| Dr.12411 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8810 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Nup358 31 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | npp-9 31 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER002W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E17227g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YRB1 30 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SIRANBP 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os03g0292800 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU00443 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | sbp1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9803 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1880 30 |
|
- Species where no ortholog for RANBP1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for RANBP1 Gene
- ENSEMBL:
- Gene Tree for RANBP1 (if available)
- TreeFam:
- Gene Tree for RANBP1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RANBP1: view image
Paralogs for RANBP1 Gene
Paralogs for RANBP1 Gene
(6) SIMAP similar genes for RANBP1 Gene using alignment to 10 proteins:
- RANG_HUMAN
- B3KUP2_HUMAN
- C9JDM3_HUMAN
- C9JGV6_HUMAN
- C9JIC6_HUMAN
- C9JJ34_HUMAN
- C9JXG8_HUMAN
- D3DX26_HUMAN
- F8WCY3_HUMAN
- H7C137_HUMAN
Pseudogenes.org Pseudogenes for RANBP1 Gene
Variants for RANBP1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RANBP1 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs150814421 | Benign: not provided | 20,126,989(+) |
G/A NM_001278639.2(RANBP1):c.774G>A (p.Ala258=) |
SYNONYMOUS | |
| VAR_036567 | A breast cancer sample |
p.Glu16Asp |
|||
| rs5746863 | - |
p.Ala145Val |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4480n100 | CNV | gain | 25217958 |
| dgv4481n100 | CNV | gain | 25217958 |
| dgv726n67 | CNV | gain | 20364138 |
| dgv7983n54 | CNV | gain | 21841781 |
| esv2110469 | CNV | deletion | 18987734 |
| esv2758825 | CNV | loss | 17122850 |
| esv3557940 | CNV | deletion | 23714750 |
| esv3647284 | CNV | gain | 21293372 |
| esv3893434 | CNV | gain | 25118596 |
| nsv1118943 | CNV | deletion | 24896259 |
| nsv1131651 | CNV | deletion | 24896259 |
| nsv471183 | CNV | loss | 18288195 |
| nsv828938 | CNV | gain | 20364138 |
| nsv828939 | CNV | loss | 20364138 |
| nsv834133 | CNV | loss | 17160897 |
| nsv953027 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
34.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.15;
3.50% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RANBP1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RANBP1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RANBP1 Gene
Disorders for RANBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| digeorge syndrome |
|
|
| ichthyosis, congenital, autosomal recessive 9 |
|
|
| velocardiofacial syndrome |
|
|
Search RANBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RANBP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RANBP1 Gene
Publications for RANBP1 Gene
- RanBP1, a Ras-like nuclear G protein binding to Ran/TC4, inhibits RCC1 via Ran/TC4. (PMID: 7616957) Hayashi N … Nishimoto T (Molecular & general genetics : MGG 1995) 2 3 4 23
- Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1. (PMID: 16428860) Takeda E … Yoneda Y (Cell structure and function 2005) 3 4 23
- A role for RanBP1 in the release of CRM1 from the nuclear pore complex in a terminal step of nuclear export. (PMID: 10330396) Kehlenbach RH … Gerace L (The Journal of cell biology 1999) 2 3 23
- Separate domains of the Ran GTPase interact with different factors to regulate nuclear protein import and RNA processing. (PMID: 7891706) Ren M … Rush MG (Molecular and cellular biology 1995) 3 4 23
- Co-activation of RanGTPase and inhibition of GTP dissociation by Ran-GTP binding protein RanBP1. (PMID: 7882974) Bischoff FR … Ponstingl H (The EMBO journal 1995) 3 4 23
ExternalLinks
Products for RANBP1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RANBP1
- Search Origene for MassSpec and Protein Over-expression Lysates for RANBP1
- Origene Custom Protein Services for RANBP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RANBP1
- Browse OriGene Inhibitory RNA Products For RANBP1
- OriGene qPCR primer pairs for RANBP1
- OriGene qPCR primer pairs and template standards for RANBP1
- OriGene CRISPR knockouts for RANBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RANBP1
- Sino Biological Human cDNA Clone for RANBP1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for RANBP1
- Novus Biologicals proteins and lysates for RANBP1
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- Abcam antibodies for RANBP1
- Abcam proteins for RANBP1
- Abcam assays for RANBP1
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- VectorBuilder Custom and pre-made DNA vectors for RANBP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RANBP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RANBP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RANBP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RANBP1
- Addgene plasmids for RANBP1
- antibodies-online: Show 14 available RANBP1 Antibodies ranked by validation data
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- antibodies-online: Search results for available RANBP1 related products ranked by validation data
- antibodies-online: Show 9 available RANBP1 Proteins ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for RANBP1
- Search Santa Cruz Biotechnology (SCBT) for RANBP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for RANBP1
- Custom Antibody ServicesProSci Antibodies for RANBP1
- Search for RANBP1 Proteins at ProSci
- Horizon Cell Lines for RANBP1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RANBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RANBP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RANBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP1
- Boster Bio Antibodies for RANBP1
- Browse Boster Bio ELISA Kits
Sources for RANBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB