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

  • RAN Binding Protein 1 2 3 5
  • Ran-Specific GTPase-Activating Protein 3 4
  • HTF9A 2 3
  • Testis Secretory Sperm-Binding Protein Li 221n 3
  • HpaII Tiny Fragments Locus 9A 3
  • Ran-Binding Protein 1 4
  • RANBP1 5
  • RanBP1 4

External Ids for RANBP1 Gene

Previous GeneCards Identifiers for RANBP1 Gene

  • GC22P017045
  • GC22P018478
  • GC22P018479
  • GC22P020103
  • GC22P003725

Summaries for RANBP1 Gene

Entrez Gene Summary 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 Transport of the SLBP independent Mature mRNA and Cytoskeletal Signaling. 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).

Gene Wiki entry for RANBP1 Gene

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:
RANBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RANBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).

    Three dimensional structures from OCA and Proteopedia for RANBP1 Gene

    Alternative splice isoforms for RANBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RANBP1 Gene

Post-translational modifications for RANBP1 Gene

  • Ubiquitination at Lys50, Lys68, Lys76, Lys134, Lys150, and Lys183
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies 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

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

UniProtKB/Swiss-Prot:

RANG_HUMAN :
  • Belongs to the RANBP1 family.
Family:
  • Belongs to the RANBP1 family.
genes like me logo Genes that share domains with RANBP1: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with RANBP1: view
genes like me logo Genes that share phenotypes with RANBP1: view

Animal Models for RANBP1 Gene

MGI Knock Outs for RANBP1:

Inhibitory RNAs for research

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

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 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RANBP1 Gene

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
genes like me logo Genes that share ontologies with RANBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RANBP1 Gene

Pathways & Interactions for RANBP1 Gene

genes like me logo Genes that share pathways with RANBP1: view

Pathways by source for RANBP1 Gene

2 Qiagen pathways for RANBP1 Gene
  • Ran Pathway
  • SUMO Pathway
1 Cell Signaling Technology pathway for RANBP1 Gene

Gene Ontology (GO) - Biological Process for RANBP1 Gene

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 --
genes like me logo Genes that share ontologies with RANBP1: view

No data available for SIGNOR curated interactions for RANBP1 Gene

Drugs & Compounds for RANBP1 Gene

(4) Drugs for RANBP1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 276
Guanosine triphosphate Experimental Pharma 0
Phenethyl isothiocyanate Investigational Pharma Target 12

(3) Additional Compounds for RANBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RANBP1: view

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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANBP1

Alternative Splicing Database (ASD) splice patterns (SP) for RANBP1 Gene

No ASD Table

Relevant External Links for RANBP1 Gene

GeneLoc Exon Structure for
RANBP1

Expression for RANBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RANBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for RANBP1 Gene

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



Protein tissue co-expression partners 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.24763

Evidence 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)
genes like me logo Genes that share expression patterns with RANBP1: view

Primer products 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.

Orthologs for RANBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RANBP1 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RANBP1 29 30
  • 91.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ranbp1 29 16 30
  • 88.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ranbp1 29
  • 88.5 (n)
Cow
(Bos Taurus)
Mammalia RANBP1 29 30
  • 86.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RANBP1 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RANBP1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RANBP1 29 30
  • 81.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RANBP1 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ranbp1 29
  • 73.91 (n)
MGC76028 29
Zebrafish
(Danio rerio)
Actinopterygii ranbp1 29 30
  • 72.93 (n)
OneToOne
Dr.12411 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8810 29
Fruit Fly
(Drosophila melanogaster)
Insecta Nup358 30
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea npp-9 30
  • 1 (a)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER002W 29
  • 59.37 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17227g 29
  • 56.72 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YRB1 29 30
  • 55.85 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SIRANBP 29
  • 53.98 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0292800 29
  • 58.79 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00443 29
  • 61.9 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sbp1 29
  • 59.26 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9803 30
  • 48 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1880 29
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
Alliance of Genome Resources:
Additional Orthologs for RANBP1

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
genes like me logo Genes that share paralogs with RANBP1: view

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RANBP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RANBP1 Gene

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

Variation tolerance for RANBP1 Gene

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
Leiden Open Variation Database (LOVD)
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

MalaCards: The human disease database

(3) MalaCards diseases for RANBP1 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RANBP1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RANBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RANBP1 Gene

Publications for RANBP1 Gene

  1. 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 22
  2. Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1. (PMID: 16428860) Takeda E … Yoneda Y (Cell structure and function 2005) 3 4 22
  3. 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 22
  4. 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 22
  5. 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 22

Products for RANBP1 Gene

Sources for RANBP1 Gene