Gene Gene information from NCBI Gene database.
Entrez ID 5905
Gene name Ran GTPase activating protein 1
Gene symbol RANGAP1
Synonyms (NCBI Gene)
Fug1RANGAPSD
Chromosome 22
Chromosome location 22q13.2
Summary 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 an
miRNA miRNA information provided by mirtarbase database.
912
miRTarBase ID miRNA Experiments Reference
MIRT031630 hsa-miR-16-5p Proteomics 18668040
MIRT049887 hsa-miR-31-5p CLASH 23622248
MIRT049661 hsa-miR-92a-3p CLASH 23622248
MIRT043425 hsa-miR-331-3p CLASH 23622248
MIRT036035 hsa-miR-1301-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 17363900
GO:0000776 Component Kinetochore IEA
GO:0003723 Function RNA binding IDA 26308891
GO:0005096 Function GTPase activator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602362 9854 ENSG00000100401
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46060
Protein name Ran GTPase-activating protein 1 (RanGAP1)
Protein function GTPase activator for RAN (PubMed:16428860, PubMed:8146159, PubMed:8896452). Converts cytoplasmic GTP-bound RAN to GDP-bound RAN, which is essential for RAN-mediated nuclear import and export (PubMed:27160050, PubMed:8896452). Mediates dissociati
PDB 1Z5S , 2GRN , 2GRO , 2GRP , 2GRQ , 2GRR , 2IO2 , 2IO3 , 2IY0 , 3UIN , 3UIO , 3UIP , 5D2M , 9B62
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13516 LRR_6 112 132 Leucine Rich repeat Repeat
PF13516 LRR_6 321 341 Leucine Rich repeat Repeat
PF07834 RanGAP1_C 371 585 RanGAP1 C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, thymus and testis. {ECO:0000269|PubMed:8973340}.
Sequence
MASEDIAKLAETLAKTQVAGGQLSFKGKSLKLNTAEDAKDVIKEIEDFDSLEALRLEGNT
VGVEAARVIAKALEKKSELKRCHWSDMFTGRLRTEIPPALISLGEGLITAGAQLVELDLS
DNAFGPDGVQGF
EALLKSSACFTLQELKLNNCGMGIGGGKILAAALTECHRKSSAQGKPL
ALKVFVAGRNRLENDGATALAEAFRVIGTLEEVHMPQNGINHPGITALAQAFAVNPLLRV
INLNDNTFTEKGAVAMAETLKTLRQVEVINFGDCLVRSKGAVAIADAIRGGLPKLKELNL
SFCEIKRDAALAVAEAMADKAELEKLDLNGNTLGEEGCEQLQEVLEGFNMAKVLASLSDD
EDEEEEEEGEEEEEEAEEEEEEDEEEEEEEEEEEEEEPQQRGQGEKSATPSRKILDPNTG
EPAPVLSSPPPADVSTFLAFPSPEKLLRLGPKSSVLIAQQTDTSDPEKVVSAFLKVSSVF
KDEATVRMAVQDAVDALMQKAFNSSSFNSNTFLTRLLVHMGLLKSEDKVKAIANLYGPLM
ALNHMVQQDYFPKALAPLLLAFVTKPNSALESCSFARHSLLQTLY
KV
Sequence length 587
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleocytoplasmic transport   Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Rev-mediated nuclear export of HIV RNA
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
SUMO E3 ligases SUMOylate target proteins
SUMOylation of DNA replication proteins
RHO GTPases Activate Formins
Mitotic Prometaphase
Postmitotic nuclear pore complex (NPC) reformation
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aneurysm Ruptured Associate 34611229
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Inhibit 22183962
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Stimulate 24223200
★☆☆☆☆
Found in Text Mining only
Hodgkin Disease Associate 24223200
★☆☆☆☆
Found in Text Mining only
Keloid Associate 36916534
★☆☆☆☆
Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive Associate 27228340
★☆☆☆☆
Found in Text Mining only
Lymphoma B Cell Associate 24223200
★☆☆☆☆
Found in Text Mining only
Lymphoma Large B Cell Diffuse Associate 24223200
★☆☆☆☆
Found in Text Mining only
Lymphoma Mantle Cell Associate 24223200
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 22832492
★☆☆☆☆
Found in Text Mining only