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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 Show/Hide all (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 Show/Hide all (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
PF07834 RanGAP1_C 371 → 585 RanGAP1 C-terminal domain Domain
PF13516 LRR_6 112 → 132 Leucine Rich repeat Repeat
PF13516 LRR_6 321 → 341 Leucine Rich repeat Repeat
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 Pathway Reactome Pathway
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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 39998322
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE — CTD 27150054
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog 39349817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA — GWAS catalog 26198764
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog 39349817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (39)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 24223200
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 24223200
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26308891
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22183962 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28733602
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 24223200
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 930927
★★★★★
★☆☆☆☆
Found in Text Mining only
beta^+^ Thalassemia beta Thalassemia BEFREE 930927
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 24223200
★★★★★
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 24223200 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only