This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] See more...

Aliases for RANGAP1 Gene

Aliases for RANGAP1 Gene

  • Ran GTPase Activating Protein 1 2 3 5
  • Ran GTPase-Activating Protein 1 3 4
  • SD 3 4
  • Segregation Distorter Homolog (Drosophila) 2
  • Segregation Distorter Homolog 3
  • Segregation Distortion 3
  • KIAA1835 4
  • RanGAP1 4
  • RANGAP 3
  • Fug1 3

External Ids for RANGAP1 Gene

Previous HGNC Symbols for RANGAP1 Gene

  • SD

Previous GeneCards Identifiers for RANGAP1 Gene

  • GC22M038256
  • GC22M039884
  • GC22M039966
  • GC22M041641
  • GC22M024606

Summaries for RANGAP1 Gene

Entrez Gene Summary for RANGAP1 Gene

  • This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for RANGAP1 Gene

RANGAP1 (Ran GTPase Activating Protein 1) is a Protein Coding gene. Diseases associated with RANGAP1 include Epileptic Encephalopathy, Early Infantile, 4 and Brain Cancer. Among its related pathways are Metabolism of proteins and Mitotic Metaphase and Anaphase. Gene Ontology (GO) annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot Summary for RANGAP1 Gene

  • GTPase activator for RAN (PubMed:8146159, PubMed:8896452, PubMed:16428860). Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export (PubMed:8896452, PubMed:27160050). Mediates dissociation of cargo from nuclear export complexes containing XPO1, RAN and RANBP2 after nuclear export (PubMed:27160050).

Gene Wiki entry for RANGAP1 Gene

Additional gene information for RANGAP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RANGAP1 Gene

Genomics for RANGAP1 Gene

GeneHancer (GH) Regulatory Elements for RANGAP1 Gene

Promoters and enhancers for RANGAP1 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 RANGAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RANGAP1

Top Transcription factor binding sites by QIAGEN in the RANGAP1 gene promoter:
  • AhR
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • p53

Genomic Locations for RANGAP1 Gene

Genomic Locations for RANGAP1 Gene
chr22:41,244,777-41,302,210
(GRCh38/hg38)
Size:
57,434 bases
Orientation:
Minus strand
chr22:41,641,615-41,682,255
(GRCh37/hg19)
Size:
40,641 bases
Orientation:
Minus strand

Genomic View for RANGAP1 Gene

Genes around RANGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RANGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RANGAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RANGAP1 Gene

Proteins for RANGAP1 Gene

  • Protein details for RANGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46060-RAGP1_HUMAN
    Recommended name:
    Ran GTPase-activating protein 1
    Protein Accession:
    P46060
    Secondary Accessions:
    • Q96JJ2

    Protein attributes for RANGAP1 Gene

    Size:
    587 amino acids
    Molecular mass:
    63542 Da
    Quaternary structure:
    • Homodimer (PubMed:8146159). Interacts with RAN (PubMed:7891706, PubMed:8896452, PubMed:16428860). Forms a complex with RANBP2/NUP358, NXF1 and NXT1 (PubMed:14729961). Forms a tight complex in association with RANBP2/NUP358 and UBE2I/UBC9, the ubiquitin-conjugating enzyme E2 (PubMed:15037602, PubMed:27160050, PubMed:15931224, PubMed:22194619). Interacts with UBE2I; the interaction conjugates SUMO1 to RANGAP1, and subsequently stabilizes interactions of sumoylated RANGAP1 with RANBP2/NUP358 (PubMed:15037602, PubMed:27160050, PubMed:15931224). The complex composed of RANBP2, SUMO1, RANGAP1 and UBE2I associates with nuclear pore complexes (PubMed:15037602, PubMed:15931224). Identified in a complex composed of RAN, RANBP2, sumoylated RANGAP1, UBE2I and XPO1 (PubMed:27160050). Identified in a complex composed of RAN, RANGAP1 and RANBP1 (PubMed:16428860). Interacts with TRAF6 (PubMed:18093978). Interacts with SUMO1 and SENP1 (PubMed:17099698). Interacts (when sumoylated) with MYCBP2; interaction inhibits MYCBP2 E3 ubiquitin-protein ligase activity and promotes MYCBP2 translocation to the nucleus (PubMed:26304119).
    SequenceCaution:
    • Sequence=BAB47464.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RANGAP1 Gene

neXtProt entry for RANGAP1 Gene

Post-translational modifications for RANGAP1 Gene

  • Phosphorylation occurs before nuclear envelope breakdown and continues throughout mitosis. Phosphorylated by the M-phase kinase cyclin B/Cdk1, in vitro. Differential timimg of dephosphorylation occurs during phases of mitosis. The phosphorylated form remains associated with RANBP2/NUP358 and the SUMO E2-conjugating enzyme, UBE2I, on nuclear pore complex (NPC) diassembly and during mitosis.
  • Sumoylated (PubMed:11854305, PubMed:15037602, PubMed:26304119, PubMed:27160050). Sumoylation is necessary for targeting to the nuclear envelope (NE), and for association with mitotic spindles and kinetochores during mitosis (PubMed:11854305). Also required for interaction with RANBP2 and is mediated by UBE2I (PubMed:27160050).
  • Ubiquitination at Lys296, Lys452, and Lys524
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RANGAP1 Gene

Domains & Families for RANGAP1 Gene

Gene Families for RANGAP1 Gene

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

Protein Domains for RANGAP1 Gene

Blocks:
  • Leucine-rich repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RANGAP1 Gene

GenScript: Design optimal peptide antigens:
  • Ran GTPase activating protein 1 (B0QYT3_HUMAN)
  • Ran GTPase-activating protein 1 (RAGP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46060

UniProtKB/Swiss-Prot:

RAGP1_HUMAN :
  • Belongs to the RNA1 family.
Family:
  • Belongs to the RNA1 family.
genes like me logo Genes that share domains with RANGAP1: view

Function for RANGAP1 Gene

Molecular function for RANGAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase activator for RAN (PubMed:8146159, PubMed:8896452, PubMed:16428860). Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export (PubMed:8896452, PubMed:27160050). Mediates dissociation of cargo from nuclear export complexes containing XPO1, RAN and RANBP2 after nuclear export (PubMed:27160050).
GENATLAS Biochemistry:
Ran GTPase activating protein 1,homolog of yeast Rna1p,component of the nuclear pore complex,highly concentrated at its cytoplasmic periphery,conjugating with UBL1 in a ATP dependent fashion,then associating with RANBP2. Involved in mRNA processing and transport

Phenotypes From GWAS Catalog for RANGAP1 Gene

Gene Ontology (GO) - Molecular Function for RANGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 26308891
GO:0005096 GTPase activator activity TAS,IDA 16428860
GO:0005515 protein binding IEA,IPI 14729961
GO:0008536 Ran GTPase binding IPI 16428860
GO:0031625 ubiquitin protein ligase binding IEA --
genes like me logo Genes that share ontologies with RANGAP1: view
genes like me logo Genes that share phenotypes with RANGAP1: view

Animal Model Products

CRISPR Products

miRNA for RANGAP1 Gene

miRTarBase miRNAs that target RANGAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RANGAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RANGAP1 Gene

Localization for RANGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RANGAP1 Gene

Cytoplasm. Nucleus, nucleoplasm. Nucleus envelope. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic during interphase. Detected at the nuclear envelope during interphase (PubMed:11854305, PubMed:15037602). Targeted to the nuclear pores after sumoylation (PubMed:11854305). During mitosis, associates with mitotic spindles, but is essentially not detected at the spindle poles (PubMed:11854305, PubMed:15037602). Association with kinetochores appears soon after nuclear envelope breakdown and persists until late anaphase (PubMed:11854305). Mitotic location also requires sumoylation (PubMed:11854305). {ECO:0000269 PubMed:11854305, ECO:0000269 PubMed:15037602}.

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 RANGAP1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nuclear membrane (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RANGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA,IEA 17363900
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IDA,TAS --
GO:0005643 nuclear pore TAS 8978815
genes like me logo Genes that share ontologies with RANGAP1: view

Pathways & Interactions for RANGAP1 Gene

genes like me logo Genes that share pathways with RANGAP1: view

Pathways by source for RANGAP1 Gene

1 GeneGo (Thomson Reuters) pathway for RANGAP1 Gene
  • Proteolysis Putative SUMO-1 pathway
2 Qiagen pathways for RANGAP1 Gene
  • Ran Pathway
  • SUMO Pathway

SIGNOR curated interactions for RANGAP1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RANGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA,TAS --
GO:0016925 protein sumoylation TAS --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0046826 negative regulation of protein export from nucleus IDA 16449645
GO:0048678 response to axon injury IEA --
genes like me logo Genes that share ontologies with RANGAP1: view

Drugs & Compounds for RANGAP1 Gene

(1) Drugs for RANGAP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RANGAP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RANGAP1: view

Transcripts for RANGAP1 Gene

mRNA/cDNA for RANGAP1 Gene

3 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
7 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 RANGAP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RANGAP1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^
SP1: - - - - - - -
SP2:
SP3: -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - -
SP9:
SP10: - -
SP11:
SP12:

ExUns: 15a · 15b ^ 16a · 16b ^ 17a · 17b
SP1:
SP2: - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RANGAP1 Gene

GeneLoc Exon Structure for
RANGAP1

Expression for RANGAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RANGAP1 Gene

Protein differential expression in normal tissues from HIPED for RANGAP1 Gene

This gene is overexpressed in Bone (14.4), Nasal epithelium (8.0), and Lymph node (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RANGAP1 Gene



Protein tissue co-expression partners for RANGAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RANGAP1

SOURCE GeneReport for Unigene cluster for RANGAP1 Gene:

Hs.183800

mRNA Expression by UniProt/SwissProt for RANGAP1 Gene:

P46060-RAGP1_HUMAN
Tissue specificity: Highly expressed in brain, thymus and testis.

Evidence on tissue expression from TISSUES for RANGAP1 Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Skin(4.2)
  • Lung(2.7)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with RANGAP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RANGAP1 Gene

Orthologs for RANGAP1 Gene

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

Orthologs for RANGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RANGAP1 31 30
  • 98.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RANGAP1 31 30
  • 89.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RANGAP1 31 30
  • 87.69 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rangap1 30
  • 86.18 (n)
mouse
(Mus musculus)
Mammalia Rangap1 17 31 30
  • 86.09 (n)
oppossum
(Monodelphis domestica)
Mammalia RANGAP1 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RANGAP1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RANGAP1 31 30
  • 75.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RANGAP1 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rangap1 30
  • 68.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia rangap1-prov 30
zebrafish
(Danio rerio)
Actinopterygii rangap1a 31 30
  • 63.95 (n)
OneToMany
rangap1b 31
  • 57 (a)
OneToMany
Dr.26558 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1664 30
fruit fly
(Drosophila melanogaster)
Insecta RanGap 31
  • 7 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ran-2 31 32
  • 12 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR525C 30
  • 47.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RNA1 33 31 30
  • 44.23 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F25036g 30
  • 42.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9560 31
  • 50 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03207 30
  • 49.64 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rna1 30
  • 45.43 (n)
Species where no ortholog for RANGAP1 was found in the sources mined by GeneCards:
  • 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)
  • 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 (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 RANGAP1 Gene

ENSEMBL:
Gene Tree for RANGAP1 (if available)
TreeFam:
Gene Tree for RANGAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RANGAP1: view image

Paralogs for RANGAP1 Gene

No data available for Paralogs for RANGAP1 Gene

Variants for RANGAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RANGAP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
770819 Benign: not provided 41,256,246(-) C/T SYNONYMOUS_VARIANT
780659 Benign: not provided 41,254,367(-) G/C MISSENSE_VARIANT
rs2229752 - p.Glu133Gln

Additional dbSNP identifiers (rs#s) for RANGAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RANGAP1 Gene

Variant ID Type Subtype PubMed ID
nsv3637 CNV deletion 18451855
nsv3638 CNV insertion 18451855
nsv459888 CNV gain 19166990
nsv479885 CNV novel sequence insertion 20440878
nsv516925 CNV loss 19592680
nsv524585 CNV loss 19592680
nsv589049 CNV gain 21841781
nsv589050 CNV gain 21841781
nsv817997 CNV gain 17921354
nsv834207 CNV loss 17160897

Variation tolerance for RANGAP1 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RANGAP1 Gene

Human Gene Mutation Database (HGMD)
RANGAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RANGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RANGAP1 Gene

Disorders for RANGAP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RANGAP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 4
  • eiee4
brain cancer
  • adult brain tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RANGAP1

genes like me logo Genes that share disorders with RANGAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RANGAP1 Gene

Publications for RANGAP1 Gene

  1. Human RanGTPase-activating protein RanGAP1 is a homologue of yeast Rna1p involved in mRNA processing and transport. (PMID: 7878053) Bischoff FR … Ponstingl H (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 23 54
  2. Phosphorylation of RanGAP1 stabilizes its interaction with Ran and RanBP1. (PMID: 16428860) Takeda E … Yoneda Y (Cell structure and function 2005) 3 4 23 54
  3. Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9-Nup358 complex. (PMID: 15931224) Reverter D … Lima CD (Nature 2005) 3 4 23 54
  4. RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly. (PMID: 15037602) Swaminathan S … Melchior F (The Journal of cell biology 2004) 3 4 23 54
  5. Ubiquitous expression and testis-specific alternative polyadenylation of mRNA for the human Ran GTPase activator RanGAP1. (PMID: 8973340) Krebber H … Ponstingl H (Gene 1996) 3 4 23 54

Products for RANGAP1 Gene

Sources for RANGAP1 Gene