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

Gene ID: 26056, updated on 5-Mar-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, Apr 2022]
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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Location:
2p13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (73073382..73112948, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (73086356..73125920, complement)
105.20220307 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
  • 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. 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
  3. RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures. Li D, et al. Immunohorizons, 2020 Nov 10. PMID 33172842, Free PMC Article
  4. Interaction between FIP5 and SNX18 regulates epithelial lumen formation. Willenborg C, et al. J Cell Biol, 2011 Oct 3. PMID 21969467, 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 (79) 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_2023_10

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

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