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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
    mouse all
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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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    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
    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)

    Genotypes

    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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