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    RAB11FIP5 RAB11 family interacting protein 5 [ Homo sapiens (human) ]

    Gene ID: 26056, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RAB11FIP5provided by HGNC
    Official Full Name
    RAB11 family interacting protein 5provided by HGNC
    Primary source
    HGNC:HGNC:24845
    See related
    Ensembl:ENSG00000135631 MIM:605536; AllianceGenome:HGNC:24845
    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
    Also known as
    GAF1; pp75; RIP11; gaf-1; rab11-FIP5
    Summary
    Enables gamma-tubulin binding activity. Involved in cellular response to acidic pH; negative regulation of adiponectin secretion; and regulation of protein localization to cell surface. Located in centriolar satellite and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 48.5), kidney (RPKM 16.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RAB11FIP5 in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73073382..73112948, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73086356..73125920, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73300510..73340076, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sideroflexin 5 Neighboring gene uncharacterized LOC107985897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73263753-73264638 Neighboring gene Sharpr-MPRA regulatory region 10332 Neighboring gene uncharacterized LOC105374800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282484-73282984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282985-73283485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73285820-73286320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73306762-73307360 Neighboring gene Sharpr-MPRA regulatory region 6541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16025 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73338684-73338927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11633 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73390968-73391162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73403343-73404016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73404017-73404690 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73421928-73422097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73430545-73431096 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11636 Neighboring gene Sharpr-MPRA regulatory region 2018 Neighboring gene notochord homeobox Neighboring gene SMYD family member 5

    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. A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder. Roohi J, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Jun 5. PMID 18384058, Free PMC Article
    2. Defining a novel 75-kDa phosphoprotein associated with SS-A/Ro and identification of distinct human autoantibodies. Wang D, et al. J Clin Invest, 1999 Nov. PMID 10545525, Free PMC Article
    3. Host RAB11FIP5 protein inhibits the release of Kaposi's sarcoma-associated herpesvirus particles by promoting lysosomal degradation of ORF45. Wei X, et al. PLoS Pathog, 2020 Dec. PMID 33315947, Free PMC Article
    4. RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures. Li D, et al. Immunohorizons, 2020 Nov 10. PMID 33172842, Free PMC Article
    5. Gaf-1b is an alternative splice variant of Gaf-1/Rip11. Kawase K, et al. Biochem Biophys Res Commun, 2003 Apr 18. PMID 12684040

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination.
      Title: Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination.
    2. RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures.
      Title: RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures.
    3. Host RAB11FIP5 protein inhibits the release of Kaposi's sarcoma-associated herpesvirus particles by promoting lysosomal degradation of ORF45.
      Title: Host RAB11FIP5 protein inhibits the release of Kaposi's sarcoma-associated herpesvirus particles by promoting lysosomal degradation of ORF45.
    4. The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39.
      Title: FERARI is required for Rab11-dependent endocytic recycling.
    5. FIP5-T276 phosphorylation occurs specifically during metaphase and anaphase.
      Title: FIP5 phosphorylation during mitosis regulates apical trafficking and lumenogenesis.
    6. FIP5-SNX18 complex plays a pivotal role in the polarized transport of apical proteins during apical lumen initiation in epithelial cells.
      Title: Interaction between FIP5 and SNX18 regulates epithelial lumen formation.
    7. These data introduce Rab11b as a crucial regulator and Rip11 as mediator of acidosis-induced V-ATPase traffic in duct cells of submandibular gland.
      Title: Rab11b and its effector Rip11 regulate the acidosis-induced traffic of V-ATPase in salivary ducts.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    10. Rip11/FIP5-kinesin-II complex plays a key role in the routing of internalized receptors through the perinuclear recycling endosomes.
      Title: The Rip11/Rab11-FIP5 and kinesin II complex regulates endocytic protein recycling.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: SFXN5

    Homology

    Clone Names

    • KIAA0857, DKFZp434H018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to acidic pH IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in insulin secretion involved in cellular response to glucose stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of adiponectin secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulated exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulated exocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of protein localization to cell surface IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in phagocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in recycling endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in secretory granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in secretory granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in transport vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rab11 family-interacting protein 5
    Names
    RAB11 family interacting protein 5 (class I)
    gamma-SNAP-associated factor 1
    phosphoprotein pp75
    rab11-interacting protein Rip11

    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_001371272.1 → NP_001358201.1  rab11 family-interacting protein 5 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010913, AC012366
      Consensus CDS
      CCDS92776.1
      UniProtKB/TrEMBL
      A0A1B0GTL5
      Related
      ENSP00000489752.1, ENST00000486777.7
      Conserved Domains (3) summary
      PHA03247
      Location:1121 → 1251
      PHA03247; large tegument protein UL36; Provisional
      pfam09457
      Location:1272 → 1319
      RBD-FIP; FIP domain
      cl14603
      Location:21 → 167
      C2; C2 domain

    2. NM_015470.3 → NP_056285.1  rab11 family-interacting protein 5 isoform 2

      See identical proteins and their annotated locations for NP_056285.1

      Status: VALIDATED

      Source sequence(s)
      AB020664, AC010913, AL117579
      Consensus CDS
      CCDS1923.1
      UniProtKB/Swiss-Prot
      O94939, Q9BXF6, Q9P0M1
      Related
      ENSP00000258098.6, ENST00000258098.6
      Conserved Domains (2) summary
      pfam09457
      Location:601 → 648
      RBD-FIP; FIP domain
      cl14603
      Location:21 → 167
      C2; C2 domain

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      73073382..73112948 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      73086356..73125920 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXF6.1 GenPept UniProtKB/Swiss-Prot:Q9BXF6

    Gene LinkOut

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

    Chemical Information
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