Gene Gene information from NCBI Gene database.
Entrez ID 26056
Gene name RAB11 family interacting protein 5
Gene symbol RAB11FIP5
Synonyms (NCBI Gene)
GAF1RIP11gaf-1pp75rab11-FIP5
Chromosome 2
Chromosome location 2p13.2
miRNA miRNA information provided by mirtarbase database.
451
miRTarBase ID miRNA Experiments Reference
MIRT022567 hsa-miR-124-3p Microarray 18668037
MIRT025784 hsa-miR-7-5p Microarray 19073608
MIRT504801 hsa-miR-8485 PAR-CLIP 22012620
MIRT504800 hsa-miR-6760-3p PAR-CLIP 22012620
MIRT504799 hsa-miR-6776-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 11278501, 12470645, 24591568, 26496610, 28514442, 29568061, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605536 24845 ENSG00000135631
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXF6
Protein name Rab11 family-interacting protein 5 (Rab11-FIP5) (Gamma-SNAP-associated factor 1) (Gaf-1) (Phosphoprotein pp75) (Rab11-interacting protein Rip11)
Protein 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. {ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 19 148 C2 domain Domain
PF09457 RBD-FIP 601 648 FIP domain Motif
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in heart, brain, placenta, lung, liver, adipocytes, kidney, spleen, skeletal muscle and pancreas. {ECO:0000269|PubMed:10545525, ECO:0000269|PubMed:11278501}.
Sequence
MALVRGAEPAAGPSRWLPTHVQVTVLRARGLRGKSSGAGSTSDAYTVIQVGREKYSTSVV
EKTHGCPEWREECSFELPPGALDGLLRAQEADAGPAPWAASSAAACELVLTTMHRSLIGV
DKFLGQATVALDEVFGAGRAQHTQWYKL
HSKPGKKEKERGEIEVTIQFTRNNLSASMFDL
SMKDKPRSPFSKIRDKMKGKKKYDLESASAILPSSAIEDPDLGSLGKMGKAKGFFLRNKL
RKSSLTQSNTSLGSDSTLSSASGSLAYQGPGAELLTRSPSRSSWLSTEGGRDSAQSPKLF
THKRTYSDEANQMRVAPPRALLDLQGHLDAASRSSLCVNGSHIYNEEPQGPVRHRSSISG
SLPSSGSLQAVSSRFSEEGPRSTDDTWPRGSRSNSSSEAVLGQEELSAQAKVLAPGASHP
GEEEGARLPEGKPVQVATPIVASSEAVAEKEGARKEERKPRMGLFHHHHQGLSRSELGRR
SSLGEKGGPILGASPHHSSSGEEKAKSSWFGLREAKDPTQKPSPHPVKPLSAAPVEGSPD
RKQSRSSLSIALSSGLEKLKTVTSGSIQPVTQAPQAGQMVDTKRLKDSAVLDQSAKYYHL
THDELISLLLQRERELSQRDEHVQELESYIDRLLVRIMETSPTLLQIPPGPPK
Sequence length 653
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Endocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RAB11FIP5-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 18384058 Associate
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 18384058
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism CTD_human_DG 18384058
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma Colorectal Cancer BEFREE 29547645
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 29547645 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 29759989
★☆☆☆☆
Found in Text Mining only
Pervasive Development Disorder Autism spectrum disorder BEFREE 18384058
★☆☆☆☆
Found in Text Mining only
Prostate carcinoma Prostate cancer BEFREE 29759989
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 29759989 Associate
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations