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    RANGAP1 Ran GTPase activating protein 1 [ Homo sapiens (human) ]

    Gene ID: 5905, updated on 17-Oct-2021

    Summary

    Official Symbol
    RANGAP1provided by HGNC
    Official Full Name
    Ran GTPase activating protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9854
    See related
    Ensembl:ENSG00000100401 MIM:602362
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SD; Fug1; RANGAP
    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 and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Broad expression in testis (RPKM 19.7), skin (RPKM 13.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RANGAP1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41244779..41302369, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41640783..41698373, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene L3MBTL2 antisense RNA 1 Neighboring gene L3MBTL histone methyl-lysine binding protein 2 Neighboring gene chondroadherin like Neighboring gene microRNA 6889 Neighboring gene Sharpr-MPRA regulatory region 14092 Neighboring gene zinc finger CCCH-type containing 7B Neighboring gene uncharacterized LOC100996598 Neighboring gene uncharacterized LOC105373042 Neighboring gene RNA, U6 small nuclear 495, pseudogene Neighboring gene TEF transcription factor, PAR bZIP family member

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    GeneReviews: Not available
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, Ran GTPase activating protein 1 (RANGAP1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells PubMed
    Tat tat Interaction of HIV-1 Tat with RANGAP1 in T-cells is identified by a proteomic strategy based on affinity chromatography PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1835, MGC20266

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to vasopressin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to axon injury IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytoplasmic periphery of the nuclear pore complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of nuclear pore TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of nuclear pore cytoplasmic filaments IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ran GTPase-activating protein 1
    Names
    segregation distorter homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001278651.2NP_001265580.1  ran GTPase-activating protein 1

      See identical proteins and their annotated locations for NP_001265580.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL035681, BC004990, BC048990, CX872993, HY062550, HY251691
      Consensus CDS
      CCDS14012.1
      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0, Q9BSK3
      Related
      ENSP00000385866.1, ENST00000405486.5
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    2. NM_001317930.2NP_001304859.1  ran GTPase-activating protein 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AL035659, BC004990, BC041396, HY062550, HY251691
      Consensus CDS
      CCDS14012.1
      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0, Q9BSK3
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    3. NM_002883.4NP_002874.1  ran GTPase-activating protein 1

      See identical proteins and their annotated locations for NP_002874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC004990, BC014044, DA269460, HY062550, HY251691
      Consensus CDS
      CCDS14012.1
      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0, Q9BSK3
      Related
      ENSP00000348577.3, ENST00000356244.8
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      41244779..41302369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028898.2XP_016884387.1  ran GTPase-activating protein 1 isoform X5

    2. XM_017028893.2XP_016884382.1  ran GTPase-activating protein 1 isoform X4

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    3. XM_017028894.2XP_016884383.1  ran GTPase-activating protein 1 isoform X4

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    4. XM_011530294.3XP_011528596.1  ran GTPase-activating protein 1 isoform X4

      See identical proteins and their annotated locations for XP_011528596.1

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    5. XM_017028895.2XP_016884384.1  ran GTPase-activating protein 1 isoform X4

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    6. XM_006724289.4XP_006724352.1  ran GTPase-activating protein 1 isoform X4

      See identical proteins and their annotated locations for XP_006724352.1

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    7. XM_017028899.1XP_016884388.1  ran GTPase-activating protein 1 isoform X6

    8. XM_017028896.2XP_016884385.1  ran GTPase-activating protein 1 isoform X4

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    9. XM_011530293.1XP_011528595.1  ran GTPase-activating protein 1 isoform X3

      Conserved Domains (3) summary
      cd00116
      Location:76368
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:106136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:416595
      RanGAP1_C; RanGAP1 C-terminal domain
    10. XM_005261695.1XP_005261752.1  ran GTPase-activating protein 1 isoform X1

      Conserved Domains (3) summary
      cd00116
      Location:76413
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:106136
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:461640
      RanGAP1_C; RanGAP1 C-terminal domain
    11. XM_017028897.1XP_016884386.1  ran GTPase-activating protein 1 isoform X4

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    12. XM_011530295.2XP_011528597.1  ran GTPase-activating protein 1 isoform X4

      See identical proteins and their annotated locations for XP_011528597.1

      UniProtKB/Swiss-Prot
      P46060
      UniProtKB/TrEMBL
      A0A024R1U0
      Related
      ENSP00000401470.2, ENST00000455915.6
      Conserved Domains (3) summary
      cd00116
      Location:21358
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:5181
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:409585
      RanGAP1_C; RanGAP1 C-terminal domain
    13. XM_005261696.1XP_005261753.1  ran GTPase-activating protein 1 isoform X2

      Conserved Domains (3) summary
      cd00116
      Location:62399
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:92122
      LRR_RI; leucine-rich repeat [structural motif]
      pfam07834
      Location:447626
      RanGAP1_C; RanGAP1 C-terminal domain
    14. XM_011530297.1XP_011528599.1  ran GTPase-activating protein 1 isoform X7

      Conserved Domains (2) summary
      cd00116
      Location:76416
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:106136
      LRR_RI; leucine-rich repeat [structural motif]

    RNA

    1. XR_002958711.1 RNA Sequence

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