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Aliases for RAB11FIP5 Gene

Aliases for RAB11FIP5 Gene

  • RAB11 Family Interacting Protein 5 2
  • RAB11 Family Interacting Protein 5 (Class I) 2 3 5
  • Rab11-Interacting Protein Rip11 3 4
  • Gamma-SNAP-Associated Factor 1 3 4
  • Phosphoprotein Pp75 3 4
  • Rab11-FIP5 3 4
  • Gaf-1 3 4
  • RIP11 3 4
  • GAF1 3 4
  • KIAA0857 4
  • Pp75 3

External Ids for RAB11FIP5 Gene

Previous GeneCards Identifiers for RAB11FIP5 Gene

  • GC02M073212
  • GC02M073036
  • GC02M073078

Summaries for RAB11FIP5 Gene

GeneCards Summary for RAB11FIP5 Gene

RAB11FIP5 (RAB11 Family Interacting Protein 5) is a Protein Coding gene. Diseases associated with RAB11FIP5 include Neonatal Lupus Erythematosus and Atypical Autism. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Endocytosis. GO annotations related to this gene include Rab GTPase binding and gamma-tubulin binding. An important paralog of this gene is RAB11FIP1.

UniProtKB/Swiss-Prot for RAB11FIP5 Gene

  • Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis.

Gene Wiki entry for RAB11FIP5 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAB11FIP5 Gene

Genomics for RAB11FIP5 Gene

Regulatory Elements for RAB11FIP5 Gene

Enhancers for RAB11FIP5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RAB11FIP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for RAB11FIP5 Gene

Chromosome:
2
Start:
73,073,382 bp from pter
End:
73,156,721 bp from pter
Size:
83,340 bases
Orientation:
Minus strand

Genomic View for RAB11FIP5 Gene

Genes around RAB11FIP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAB11FIP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAB11FIP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAB11FIP5 Gene

Proteins for RAB11FIP5 Gene

  • Protein details for RAB11FIP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXF6-RFIP5_HUMAN
    Recommended name:
    Rab11 family-interacting protein 5
    Protein Accession:
    Q9BXF6
    Secondary Accessions:
    • O94939
    • Q9P0M1

    Protein attributes for RAB11FIP5 Gene

    Size:
    653 amino acids
    Molecular mass:
    70415 Da
    Quaternary structure:
    • Forms a heterooligomeric complex with RAB11FIP4. Binds NAPG and TROVE2. Binds RAB11A that has been activated by GTP binding.
    Miscellaneous:
    • Antibodies against RIP11 are found in sera from patients with autoimmune diseases such as systemic lupus erythematosus (SLE) or Sjoegren syndrome (SS). It is also found in the sera from mothers of children with neonatal lupus erythematosus (NLE).
    SequenceCaution:
    • Sequence=BAA74880.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for RAB11FIP5 Gene

Proteomics data for RAB11FIP5 Gene at MOPED

Post-translational modifications for RAB11FIP5 Gene

  • Phosphorylated on serine and threonine residues. Phosphorylation at Ser-357 is PKA-dependent.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAB11FIP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RAB11FIP5 Gene

Domains & Families for RAB11FIP5 Gene

Gene Families for RAB11FIP5 Gene

Protein Domains for RAB11FIP5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RAB11FIP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXF6

UniProtKB/Swiss-Prot:

RFIP5_HUMAN :
  • Binds to vesicles enriched in neutral phospholipids via its C2 domain. The interaction is favored by Mg(2+) rather than Ca(2+).
Domain:
  • Binds to vesicles enriched in neutral phospholipids via its C2 domain. The interaction is favored by Mg(2+) rather than Ca(2+).
  • Contains 1 C2 domain.
  • Contains 1 FIP-RBD domain.
genes like me logo Genes that share domains with RAB11FIP5: view

Function for RAB11FIP5 Gene

Molecular function for RAB11FIP5 Gene

UniProtKB/Swiss-Prot Function:
Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis.

Gene Ontology (GO) - Molecular Function for RAB11FIP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043015 gamma-tubulin binding IDA 11278501
genes like me logo Genes that share ontologies with RAB11FIP5: view
genes like me logo Genes that share phenotypes with RAB11FIP5: view

Animal Model Products

CRISPR Products

miRNA for RAB11FIP5 Gene

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAB11FIP5 Gene

Localization for RAB11FIP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAB11FIP5 Gene

Cytoplasm. Recycling endosome membrane; Peripheral membrane protein. Early endosome membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Mitochondrion membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAB11FIP5 Gene COMPARTMENTS Subcellular localization image for RAB11FIP5 gene
Compartment Confidence
cytoskeleton 5
endosome 5
mitochondrion 5
golgi apparatus 4
cytosol 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RAB11FIP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005739 mitochondrion IEA --
GO:0005815 microtubule organizing center IDA --
GO:0030141 secretory granule IEA,ISS --
GO:0030658 transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with RAB11FIP5: view

Pathways & Interactions for RAB11FIP5 Gene

genes like me logo Genes that share pathways with RAB11FIP5: view

Pathways by source for RAB11FIP5 Gene

1 KEGG pathway for RAB11FIP5 Gene
1 GeneGo (Thomson Reuters) pathway for RAB11FIP5 Gene

Gene Ontology (GO) - Biological Process for RAB11FIP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045055 regulated exocytosis IEA,ISS --
GO:0071468 cellular response to acidic pH IDA 20717956
genes like me logo Genes that share ontologies with RAB11FIP5: view

No data available for SIGNOR curated interactions for RAB11FIP5 Gene

Drugs & Compounds for RAB11FIP5 Gene

(1) Drugs for RAB11FIP5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RAB11FIP5: view

Transcripts for RAB11FIP5 Gene

Unigene Clusters for RAB11FIP5 Gene

RAB11 family interacting protein 5 (class I):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAB11FIP5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - - - -
SP2: - - -
SP3: - - - - - -
SP4: - -
SP5:
SP6: -

Relevant External Links for RAB11FIP5 Gene

GeneLoc Exon Structure for
RAB11FIP5
ECgene alternative splicing isoforms for
RAB11FIP5

Expression for RAB11FIP5 Gene

mRNA expression in normal human tissues for RAB11FIP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAB11FIP5 Gene

This gene is overexpressed in Testis (x5.6).

Protein differential expression in normal tissues from HIPED for RAB11FIP5 Gene

This gene is overexpressed in Testis (18.5), Spleen (11.1), and Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAB11FIP5 Gene



SOURCE GeneReport for Unigene cluster for RAB11FIP5 Gene Hs.24557

mRNA Expression by UniProt/SwissProt for RAB11FIP5 Gene

Q9BXF6-RFIP5_HUMAN
Tissue specificity: Detected at low levels in heart, brain, placenta, lung, liver, adipocytes, kidney, spleen, skeletal muscle and pancreas.
genes like me logo Genes that share expression patterns with RAB11FIP5: view

Protein tissue co-expression partners for RAB11FIP5 Gene

Primer Products

Orthologs for RAB11FIP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB11FIP5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RAB11FIP5 35
  • 88.82 (n)
  • 90.2 (a)
RAB11FIP5 36
  • 44 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAB11FIP5 35
  • 89.51 (n)
  • 89.91 (a)
RAB11FIP5 36
  • 43 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rab11fip5 35
  • 84.38 (n)
  • 85.74 (a)
Rab11fip5 16
Rab11fip5 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RAB11FIP5 35
  • 99.23 (n)
  • 99.39 (a)
RAB11FIP5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rab11fip5 35
  • 82.88 (n)
  • 84.45 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 34 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 23 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RAB11FIP5 36
  • 26 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18355 35
zebrafish
(Danio rerio)
Actinopterygii RAB11FIP5 (1 of 2) 36
  • 17 (a)
OneToMany
rab11fip5a 36
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rip11 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8553 36
  • 20 (a)
OneToMany
Species with no ortholog for RAB11FIP5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAB11FIP5 Gene

ENSEMBL:
Gene Tree for RAB11FIP5 (if available)
TreeFam:
Gene Tree for RAB11FIP5 (if available)

Paralogs for RAB11FIP5 Gene

Paralogs for RAB11FIP5 Gene

(3) SIMAP similar genes for RAB11FIP5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RAB11FIP5: view

Variants for RAB11FIP5 Gene

Sequence variations from dbSNP and Humsavar for RAB11FIP5 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs727469 -- 73,094,846(-) CTTTG(A/G)TAACT intron-variant
rs727470 -- 73,094,843(-) TGGTA(A/G)CTTAC intron-variant
rs727471 -- 73,094,765(-) TGGGA(A/G)GGCAA intron-variant
rs891431 -- 73,093,370(+) TCTGG(C/G)AGCAC intron-variant
rs891432 -- 73,093,489(+) CCAAA(C/G)TAAAG intron-variant

Variation tolerance for RAB11FIP5 Gene

Residual Variation Intolerance Score: 43.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RAB11FIP5 Gene

Human Gene Mutation Database (HGMD)
RAB11FIP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RAB11FIP5 Gene

Disorders for RAB11FIP5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RAB11FIP5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
neonatal lupus erythematosus
  • neonatal systemic lupus erythematosus
atypical autism
  • pdd nos
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RAB11FIP5

Genetic Association Database (GAD)
RAB11FIP5
Human Genome Epidemiology (HuGE) Navigator
RAB11FIP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RAB11FIP5
genes like me logo Genes that share disorders with RAB11FIP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAB11FIP5 Gene

Publications for RAB11FIP5 Gene

  1. A Rab11/Rip11 protein complex regulates apical membrane trafficking via recycling endosomes. (PMID: 11163216) Prekeris R. … Scheller R.H. (Mol. Cell 2000) 2 3 4 67
  2. A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder. (PMID: 18384058) Roohi J. … Hatchwell E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 23
  3. Mapping of functional domains of gamma-SNAP. (PMID: 12554740) Tani K. … Tagaya M. (J. Biol. Chem. 2003) 3 23
  4. Rab11-FIP4 interacts with Rab11 in a GTP-dependent manner and its overexpression condenses the Rab11 positive compartment in HeLa cells. (PMID: 12470645) Wallace D.M. … McCaffrey M.W. (Biochem. Biophys. Res. Commun. 2002) 3 23
  5. Gaf-1, a gamma-SNAP-binding protein associated with the mitochondria. (PMID: 11278501) Chen D. … Whiteheart S.W. (J. Biol. Chem. 2001) 3 23

Products for RAB11FIP5 Gene

Sources for RAB11FIP5 Gene

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