RANBP1 RAN binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RANBP1provided by HGNC
Official Full Name: RAN binding protein 1provided by HGNC
Primary source: HGNC:HGNC:9847
See related: Ensembl:ENSG00000099901 MIM:601180; AllianceGenome:HGNC:9847
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: HTF9A
Summary: This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in testis (RPKM 15.4), lymph node (RPKM 10.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.21

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (20116104..20127355)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (20495154..20506390)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (20103627..20114878)

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?

Oxidative stress and signaling through EGFR and PKA pathways converge on the nuclear transport factor RanBP1.
Title: Oxidative stress and signaling through EGFR and PKA pathways converge on the nuclear transport factor RanBP1.
RanBP1: A Potential Therapeutic Target for Cancer Stem Cells in Lung Cancer and Glioma.
Title: RanBP1: A Potential Therapeutic Target for Cancer Stem Cells in Lung Cancer and Glioma.
RanBP1 controls the Ran pathway in mammalian cells through regulation of mitotic RCC1 dynamics.
Title: RanBP1 controls the Ran pathway in mammalian cells through regulation of mitotic RCC1 dynamics.
Sgk1-dependent regulation of RANBP1 has functional consequences on both mitotic microtubule activity and taxol sensitivity of cancer cells.
Title: Sgk1 enhances RANBP1 transcript levels and decreases taxol sensitivity in RKO colon carcinoma cells.
in vitro and in vivo phosphorylation of RanBP1 by Plk1 as well as the importance of phosphorylation of RanBP1 in the interaction between Plk1 and Ran during early mitosis, is demonstrated.
Title: Phosphorylation of Ran-binding protein-1 by Polo-like kinase-1 is required for interaction with Ran and early mitotic progression.
RANBP1 on 22q11.21 locus might be causally related to the smooth pursuit eye movement abnormality rather than the development of schizophrenia.
Title: Association of RANBP1 haplotype with smooth pursuit eye movement abnormality.
Downregulation of the Ran GTPase effector RanBP1 is required for nuclear reorganisation.
Title: Nuclear reformation after mitosis requires downregulation of the Ran GTPase effector RanBP1 in mammalian cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
Generation of Ran-GTP from Ran-GDP by importin-beta is activated by Ran-binding protein-1 (RanBP1) that forms a trimeric complex with Ran-GDP and importin-beta.
Title: Importin-beta is a GDP-to-GTP exchange factor of Ran: implications for the mechanism of nuclear import.
RanBP1-interfered cells show an increased apoptotic response to taxol compared to their counterpart with normal or high RanBP1 levels, and this response is caspase-3 dependent.
Title: RanBP1 downregulation sensitizes cancer cells to taxol in a caspase-3-dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

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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Replication interactions

Interaction	Pubs
Knockdown of RAN binding protein 1 (RANBP1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	RanBP1 competes with Rev for the same nuclear export pathway and as a result can affect Rev-mediated nuclear export of HIV-1 mRNA	PubMed
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with RAN binding protein 1 (RANBP1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	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

SGC31575 (e-PCR)
- UniSTS:79278

G20657 (e-PCR)
- UniSTS:70106

WI-19818 (e-PCR)
- UniSTS:29917

RH17118 (e-PCR)
- UniSTS:91385

RH77824 (e-PCR)
- UniSTS:82687

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP-dissociation inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation of mitotic centrosome separation	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear envelope	TAS Traceable Author Statement more info
part_of nuclear pore	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ran-specific GTPase-activating protein

Names: HpaII tiny fragments locus 9A; testis secretory sperm-binding protein Li 221n

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_001278639.2 → NP_001265568.1 ran-specific GTPase-activating protein isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AW404614, CA489474, DC397929, HY229989, X83617

Consensus CDS

CCDS74823.1

UniProtKB/TrEMBL

F6WQW2

Related

ENSP00000401564.2, ENST00000430524.6

Conserved Domains (1) summary

cd13179
Location:101 → 237

RanBD_RanBP1; Ran-binding domain
NM_001278640.2 → NP_001265569.1 ran-specific GTPase-activating protein isoform 3

See identical proteins and their annotated locations for NP_001265569.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains multiple differences, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AW404614, D38076, HY229989

Consensus CDS

CCDS63408.1

UniProtKB/Swiss-Prot

P43487

Related

ENSP00000384925.1, ENST00000402752.5

Conserved Domains (1) summary

cd13179
Location:24 → 160

RanBD_RanBP1; Ran-binding domain
NM_001278641.2 → NP_001265570.1 ran-specific GTPase-activating protein isoform 4

See identical proteins and their annotated locations for NP_001265570.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains multiple differences, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC006547, AW404614, BG717186, BI916757, HY229989

UniProtKB/TrEMBL

C9JXG8

Related

ENSP00000413502.2, ENST00000418705.2

Conserved Domains (1) summary

cd13179
Location:1 → 110

RanBD_RanBP1; Ran-binding domain
NM_002882.4 → NP_002873.1 ran-specific GTPase-activating protein isoform 2

See identical proteins and their annotated locations for NP_002873.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AW404614, DB459798, HY229989, X83617

Consensus CDS

CCDS13775.1

UniProtKB/Swiss-Prot

P43487, Q53EY3

UniProtKB/TrEMBL

A0A140VK94

Related

ENSP00000327583.3, ENST00000331821.8

Conserved Domains (1) summary

cd13179
Location:24 → 160

RanBD_RanBP1; Ran-binding 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

20116104..20127355

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011530289.4 → XP_011528591.1 ran-specific GTPase-activating protein isoform X1

See identical proteins and their annotated locations for XP_011528591.1

UniProtKB/TrEMBL

B4DE76, B7Z6U1

Conserved Domains (1) summary

cd13179
Location:24 → 146

RanBD_RanBP1; Ran-binding domain
XM_017028892.2 → XP_016884381.1 ran-specific GTPase-activating protein isoform X3

UniProtKB/TrEMBL

C9JXG8

Conserved Domains (1) summary

cd13179
Location:1 → 110

RanBD_RanBP1; Ran-binding domain
XM_011530290.3 → XP_011528592.1 ran-specific GTPase-activating protein isoform X2

See identical proteins and their annotated locations for XP_011528592.1

UniProtKB/TrEMBL

B3KUP2

Conserved Domains (1) summary

cl17171
Location:14 → 70

PH-like; Pleckstrin homology-like domain
XM_047441451.1 → XP_047297407.1 ran-specific GTPase-activating protein isoform X5
XM_047441450.1 → XP_047297406.1 ran-specific GTPase-activating protein isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

20495154..20506390

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325804.1 → XP_054181779.1 ran-specific GTPase-activating protein isoform X1

UniProtKB/TrEMBL

B4DE76
XM_054325806.1 → XP_054181781.1 ran-specific GTPase-activating protein isoform X3
XM_054325805.1 → XP_054181780.1 ran-specific GTPase-activating protein isoform X2

UniProtKB/TrEMBL

B3KUP2
XM_054325808.1 → XP_054181783.1 ran-specific GTPase-activating protein isoform X5
XM_054325807.1 → XP_054181782.1 ran-specific GTPase-activating protein isoform X4