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Aliases for RAB11FIP5 Gene

Aliases for RAB11FIP5 Gene

  • RAB11 Family Interacting Protein 5 2 3 5
  • RAB11 Family Interacting Protein 5 (Class I) 2 3
  • 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
  • Rab11 Family-Interacting Protein 5 3
  • KIAA0857 4
  • Pp75 3

External Ids for RAB11FIP5 Gene

Previous GeneCards Identifiers for RAB11FIP5 Gene

  • GC02M073212
  • GC02M073036
  • GC02M073078
  • GC02M073086
  • GC02M073092
  • GC02M073098
  • GC02M073104
  • GC02M073112

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 Endocytosis and Delta508-CFTR traffic / ER-to-Golgi in CF. Gene Ontology (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

Additional gene information for RAB11FIP5 Gene

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

Genomics for RAB11FIP5 Gene

GeneHancer (GH) Regulatory Elements for RAB11FIP5 Gene

Promoters and enhancers for RAB11FIP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I073109 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 572.3 +44.8 44826 5.2 PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 GLIS2 FOS SP3 RAB11FIP5 ENSG00000272702 DUSP11 ENSG00000273245 SFXN5 EMX1 SPR SMYD5 GC02M073116 PIR41361
GH02I073156 Enhancer 1 Ensembl ENCODE 550.8 -0.1 -60 0.9 ELF3 RB1 ARID4B ZNF2 ZNF48 RAD21 ETS1 ARID2 ZNF143 THAP11 RAB11FIP5 DUSP11 ENSG00000273245 PRADC1 SFXN5 GC02P073186
GH02I073083 Enhancer 1.3 Ensembl ENCODE dbSUPER 20.8 +68.6 68571 9.3 FOXA2 ARID4B ZNF2 IRF4 ETS1 ARID2 ZNF143 ATF7 FOS RUNX3 RAB11FIP5 SPR GC02M073116 PIR41361 ENSG00000272702
GH02I073106 Enhancer 0.9 Ensembl ENCODE dbSUPER 20.8 +49.2 49151 2.7 ESRRA SAP130 POLR2A SMAD4 RAD21 RAB11FIP5 SFXN5 EMX1 ENSG00000272702 GC02M073116 PIR41361
GH02I073020 Enhancer 0.9 ENCODE 19.2 +135.5 135524 1.7 CLOCK FOXA2 MLX ARID4B ZNF48 SLC30A9 ATF7 FOS SP5 ZHX2 RAB11FIP5 SFXN5 EMX1 SPR GC02P072995 LOC105374800
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RAB11FIP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RAB11FIP5 gene promoter:

Genomic Locations for RAB11FIP5 Gene

Genomic Locations for RAB11FIP5 Gene
chr2:73,073,382-73,156,721
(GRCh38/hg38)
Size:
83,340 bases
Orientation:
Minus strand
chr2:73,300,510-73,383,849
(GRCh37/hg19)

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

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

No data available for DME Specific Peptides for RAB11FIP5 Gene

Domains & Families for RAB11FIP5 Gene

Gene Families for RAB11FIP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RAB11FIP5 Gene

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+).
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.

Phenotypes From GWAS Catalog for RAB11FIP5 Gene

Gene Ontology (GO) - Molecular Function for RAB11FIP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11278501
GO:0017137 Rab GTPase binding IBA --
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 Models for RAB11FIP5 Gene

MGI Knock Outs for RAB11FIP5:

Animal Model Products

CRISPR Products

miRNA for RAB11FIP5 Gene

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAB11FIP5 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
endosome 5
golgi apparatus 4
nucleus 2
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RAB11FIP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IDA 11278501
GO:0005768 endosome 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:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0035773 insulin secretion involved in cellular response to glucose stimulus ISS --
GO:0045055 regulated exocytosis ISS,IBA --
GO:0070164 negative regulation of adiponectin secretion IDA 24040321
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RAB11FIP5 Gene



Protein tissue co-expression partners for RAB11FIP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of RAB11FIP5 Gene:

RAB11FIP5

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.

Evidence on tissue expression from TISSUES for RAB11FIP5 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Skin(4.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with RAB11FIP5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAB11FIP5 Gene

Orthologs for RAB11FIP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for RAB11FIP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAB11FIP5 33 34
  • 99.23 (n)
dog
(Canis familiaris)
Mammalia RAB11FIP5 33 34
  • 89.51 (n)
cow
(Bos Taurus)
Mammalia RAB11FIP5 33 34
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Rab11fip5 33 16 34
  • 84.38 (n)
rat
(Rattus norvegicus)
Mammalia Rab11fip5 33
  • 82.88 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 34 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 23 (a)
ManyToMany
chicken
(Gallus gallus)
Aves RAB11FIP5 34
  • 26 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18355 33
zebrafish
(Danio rerio)
Actinopterygii rab11fip5a 34
  • 34 (a)
OneToMany
RAB11FIP5 (1 of 2) 34
  • 17 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rip11 34
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8553 34
  • 20 (a)
OneToMany
Species where no ortholog for RAB11FIP5 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000033439 -- 73,076,475(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000068501 -- 73,094,244(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000137421 -- 73,099,576(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000149111 -- 73,107,490(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000208438 -- 73,099,879(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RAB11FIP5 Gene

Variant ID Type Subtype PubMed ID
nsv1002295 CNV gain 25217958

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)

Additional Variant Information for RAB11FIP5 Gene

Human Gene Mutation Database (HGMD)
RAB11FIP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAB11FIP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAB11FIP5 Gene

Disorders for RAB11FIP5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RAB11FIP5 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for RAB11FIP5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Rab11-FIP4 interacts with Rab11 in a GTP-dependent manner and its overexpression condenses the Rab11 positive compartment in HeLa cells. (PMID: 12470645) Wallace DM … McCaffrey MW (Biochemical and biophysical research communications 2002) 3 4 22 58
  2. Gaf-1, a gamma -SNAP-binding protein associated with the mitochondria. (PMID: 11278501) Chen D … Whiteheart SW (The Journal of biological chemistry 2001) 3 4 22 58
  3. A Rab11/Rip11 protein complex regulates apical membrane trafficking via recycling endosomes. (PMID: 11163216) Prekeris R … Scheller RH (Molecular cell 2000) 2 3 4 58
  4. Defining a novel 75-kDa phosphoprotein associated with SS-A/Ro and identification of distinct human autoantibodies. (PMID: 10545525) Wang D … Chan EK (The Journal of clinical investigation 1999) 3 4 22 58
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58

Products for RAB11FIP5 Gene

Sources for RAB11FIP5 Gene

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