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RANBP6 RAN binding protein 6 [ Homo sapiens (human) ]

Gene ID: 26953, updated on 2-Nov-2024

Summary

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Official Symbol
RANBP6provided by HGNC
Official Full Name
RAN binding protein 6provided by HGNC
Primary source
HGNC:HGNC:9851
See related
Ensembl:ENSG00000137040 AllianceGenome:HGNC:9851
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Predicted to be involved in protein import into nucleus. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 13.1), brain (RPKM 11.6) and 25 other tissues See more
Orthologs
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Genomic context

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See RANBP6 in Genome Data Viewer
Location:
9p24.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (6011025..6015624, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (6016163..6020762, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (6011025..6015624, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:5909826-5911025 Neighboring gene bromodomain containing 10 Neighboring gene melan-A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6007511-6008012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6008013-6008512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19762 Neighboring gene microRNA 4665 Neighboring gene uncharacterized LOC124902116 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28183 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:6084860-6086059 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:6086910-6088109 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6106510-6107010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6107011-6107511 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:6152686-6153885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:6166539-6167040 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:6182382-6182966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:6182967-6183551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28185 Neighboring gene general transcription factor IIIA pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. EGFR feedback-inhibition by Ran-binding protein 6 is disrupted in cancer. Oldrini B, et al. Nat Commun, 2017 Dec 11. PMID 29229958, Free PMC Article
  2. Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. Ferreira MA, et al. J Allergy Clin Immunol, 2014 Jun. PMID 24388013, Free PMC Article
  3. 5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia. Meffre J, et al. EMBO Mol Med, 2012 Oct. PMID 23027611, Free PMC Article
  4. A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Hinds DA, et al. Nat Genet, 2013 Aug. PMID 23817569, Free PMC Article
  5. FGF11 induced by hypoxia interacts with HIF-1α and enhances its stability. Lee KW, et al. FEBS Lett, 2017 Jan. PMID 28027390

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
EBI GWAS Catalog

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
integrase gag-pol HIV-1 IN is identified to have a physical interaction with RAN binding protein 6 (RANBP6) 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

Homology

Clone Names

  • FLJ54311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear import signal receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nuclear localization sequence binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein import into nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HTP PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ran-binding protein 6
Names
Ran-GTP binding protein

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)

  1. NM_001243202.2 → NP_001230131.1  ran-binding protein 6 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI568841, BC012805, DA116213, DA155272, DA234653
    UniProtKB/TrEMBL
    B4DTX6
    Conserved Domains (3) summary
    pfam13513
    Location:575 → 635
    HEAT_EZ; HEAT-like repeat
    pfam13646
    Location:21 → 123
    HEAT_2; HEAT repeats
    sd00044
    Location:521 → 546
    HEAT; HEAT repeat [structural motif]

  2. NM_001243203.2 → NP_001230132.1  ran-binding protein 6 isoform 3

    See identical proteins and their annotated locations for NP_001230132.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI568841, AK300408, BC012805, DC334669
    Consensus CDS
    CCDS78378.1
    UniProtKB/TrEMBL
    A0A096LNS2
    Related
    ENSP00000485188.1, ENST00000485372.1

  3. NM_012416.4 → NP_036548.1  ran-binding protein 6 isoform 1

    See identical proteins and their annotated locations for NP_036548.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI568841, AK001982, BC098406, DC334669
    Consensus CDS
    CCDS6467.1
    UniProtKB/Swiss-Prot
    O60518, Q5T7X4, Q7Z3V2, Q96E78
    Related
    ENSP00000259569.5, ENST00000259569.6
    Conserved Domains (2) summary
    COG5215
    Location:309 → 640
    KAP95; Karyopherin (importin) beta [Intracellular trafficking and secretion]
    sd00044
    Location:330 → 353
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    6011025..6015624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423233.1 → XP_047279189.1  ran-binding protein 6 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    6016163..6020762 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362744.1 → XP_054218719.1  ran-binding protein 6 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60518.2 GenPept UniProtKB/Swiss-Prot:O60518

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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