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

Gene ID: 5905, updated on 3-May-2020

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

Genomic context

See RANGAP1 in Genome Data Viewer
Location:
22q13.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (41244779..41302369, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (41640781..41682255, 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

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

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

NCBI Reference Sequences (RefSeq)

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, ENST00000356244.7
    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.

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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