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

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; AllianceGenome:HGNC:9854
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: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41244779..41302369, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (41719708..41781201, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (41640783..41698373, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SUMOylation mediates the disassembly of the Smad4 nuclear export complex via RanGAP1 in KELOIDS.
Title: SUMOylation mediates the disassembly of the Smad4 nuclear export complex via RanGAP1 in KELOIDS.
Loss of RanGAP1 drives chromosome instability and rapid tumorigenesis of osteosarcoma.
Title: Loss of RanGAP1 drives chromosome instability and rapid tumorigenesis of osteosarcoma.
CircRNA_0079586 and circRNA_RanGAP1 are involved in the pathogenesis of intracranial aneurysms rupture by regulating the expression of MPO.
Title: CircRNA_0079586 and circRNA_RanGAP1 are involved in the pathogenesis of intracranial aneurysms rupture by regulating the expression of MPO.
The RanBP2/RanGAP1-SUMO complex gates beta-arrestin2 nuclear entry to regulate the Mdm2-p53 signaling axis.
Title: The RanBP2/RanGAP1-SUMO complex gates β-arrestin2 nuclear entry to regulate the Mdm2-p53 signaling axis.
Circular RNA circ-RanGAP1 regulates VEGFA expression by targeting miR-877-3p to facilitate gastric cancer invasion and metastasis.
Title: Circular RNA circ-RanGAP1 regulates VEGFA expression by targeting miR-877-3p to facilitate gastric cancer invasion and metastasis.
NUSAP1 contributes to accurate chromosome segregation by acting as a co-factor for RanBP2-RanGAP1-UBC9 during cell division.
Title: Nucleolar and spindle-associated protein 1 (NUSAP1) interacts with a SUMO E3 ligase complex during chromosome segregation.
RanGAP1 upregulation is associated with drug resistance in Chronic Myeloid Leukemia.
Title: MicroRNA-1301-Mediated RanGAP1 Downregulation Induces BCR-ABL Nuclear Entrapment to Enhance Imatinib Efficacy in Chronic Myeloid Leukemia Cells.
Abnormal localization of RanGAP1 was found in cortex of Huntington's disease patients.
Title: Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport.
our results elucidate that RanGAP1 is actively transported between the nuclear and cytoplasmic compartments, and that the cytoplasmic and NPC localization of RanGAP1 is dependent on CRM1-mediated nuclear export.
Title: The Cellular Distribution of RanGAP1 Is Regulated by CRM1-Mediated Nuclear Export in Mammalian Cells.
immune cell adaptor SLP-76 binds directly to SUMO-RanGAP1 of cytoplasmic fibrils of the nuclear pore complex, and this interaction is needed for optimal NFATc1 and NF-kappaB p65 nuclear entry in T cells
Title: The Immune Adaptor SLP-76 Binds to SUMO-RANGAP1 at Nuclear Pore Complex Filaments to Regulate Nuclear Import of Transcription Factors in T Cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH47253 (e-PCR)
- UniSTS:58428

G67898 (e-PCR)
- UniSTS:225627

RH47123 (e-PCR)
- UniSTS:78429

GDB:229316 (e-PCR)
- UniSTS:156263

AB072759 (e-PCR)
- UniSTS:480139

G65454 (e-PCR)
- UniSTS:166548

A006B13 (e-PCR)
- UniSTS:7580

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
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 more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
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 nuclear export	EXP Inferred from Experiment more info	PubMed
involved_in nucleocytoplasmic transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein sumoylation	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
part_of SUMO ligase complex	IPI Inferred from Physical Interaction more info	PubMed
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
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor 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	NAS Non-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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ran GTPase-activating protein 1

Names: segregation distorter homolog

NCBI Reference Sequences (RefSeq)

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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)

NM_001278651.2 → NP_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, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Related

ENSP00000385866.1, ENST00000405486.5

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
NM_001317930.2 → NP_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, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
NM_002883.4 → NP_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, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Related

ENSP00000348577.3, ENST00000356244.8

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

41244779..41302369 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724289.5 → XP_006724352.1 ran GTPase-activating protein 1 isoform X3

See identical proteins and their annotated locations for XP_006724352.1

UniProtKB/Swiss-Prot

P46060, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
XM_017028893.3 → XP_016884382.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
XM_005261695.2 → XP_005261752.1 ran GTPase-activating protein 1 isoform X1

Conserved Domains (3) summary

cd00116
Location:76 → 413

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:106 → 136

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:461 → 640

RanGAP1_C; RanGAP1 C-terminal domain
XM_017028895.3 → XP_016884384.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
XM_047441452.1 → XP_047297408.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2

Related

ENSP00000401470.2, ENST00000455915.6
XM_017028897.2 → XP_016884386.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:21 → 358

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:51 → 81

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:409 → 585

RanGAP1_C; RanGAP1 C-terminal domain
XM_005261696.2 → XP_005261753.1 ran GTPase-activating protein 1 isoform X2

UniProtKB/TrEMBL

B4DY16

Conserved Domains (3) summary

cd00116
Location:62 → 399

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:92 → 122

LRR_RI; leucine-rich repeat [structural motif]

pfam07834
Location:447 → 626

RanGAP1_C; RanGAP1 C-terminal domain
XM_047441453.1 → XP_047297409.1 ran GTPase-activating protein 1 isoform X4
XM_011530297.2 → XP_011528599.1 ran GTPase-activating protein 1 isoform X5

Conserved Domains (2) summary

cd00116
Location:76 → 416

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:106 → 136

LRR_RI; leucine-rich repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

41719708..41781201 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325813.1 → XP_054181788.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2
XM_054325811.1 → XP_054181786.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2
XM_054325814.1 → XP_054181789.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2
XM_054325809.1 → XP_054181784.1 ran GTPase-activating protein 1 isoform X1
XM_054325815.1 → XP_054181790.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2
XM_054325812.1 → XP_054181787.1 ran GTPase-activating protein 1 isoform X3

UniProtKB/Swiss-Prot

P46060, Q96JJ2
XM_054325810.1 → XP_054181785.1 ran GTPase-activating protein 1 isoform X2
XM_054325816.1 → XP_054181791.1 ran GTPase-activating protein 1 isoform X4
XM_054325817.1 → XP_054181792.1 ran GTPase-activating protein 1 isoform X5