• Gene id: 26056

Gene Summary

• Gene Symbol: RAB11FIP5   Gene   UCSC   Ensembl
• Aliases: GAF1, RIP11, gaf-1, pp75, rab11-FIP5
• Gene name: RAB11 family interacting protein 5
• Alternate names: rab11 family-interacting protein 5, RAB11 family interacting protein 5 (class I), gamma-SNAP-associated factor 1, phosphoprotein pp75, rab11-interacting protein Rip11,
• Gene location: 2p13.2 (73112947: 73073381)     Exons: 6     NC_000002.12
• OMIM: 605536

Protein Summary

• Protein general information: Q9BXF6  
  • Name: Rab11 family interacting protein 5 (Rab11 FIP5) (Gamma SNAP associated factor 1) (Gaf 1) (Phosphoprotein pp75) (Rab11 interacting protein Rip11)
  • Length: 653  
  • Mass: 70415
  • Tissue specificity: Detected at low levels in heart, brain, placenta, lung, liver, adipocytes, kidney, spleen, skeletal muscle and pancreas. {ECO
• Sequence:

  MALVRGAEPAAGPSRWLPTHVQVTVLRARGLRGKSSGAGSTSDAYTVIQVGREKYSTSVVEKTHGCPEWREECSF
  ELPPGALDGLLRAQEADAGPAPWAASSAAACELVLTTMHRSLIGVDKFLGQATVALDEVFGAGRAQHTQWYKLHS
  KPGKKEKERGEIEVTIQFTRNNLSASMFDLSMKDKPRSPFSKIRDKMKGKKKYDLESASAILPSSAIEDPDLGSL
  GKMGKAKGFFLRNKLRKSSLTQSNTSLGSDSTLSSASGSLAYQGPGAELLTRSPSRSSWLSTEGGRDSAQSPKLF
  THKRTYSDEANQMRVAPPRALLDLQGHLDAASRSSLCVNGSHIYNEEPQGPVRHRSSISGSLPSSGSLQAVSSRF
  SEEGPRSTDDTWPRGSRSNSSSEAVLGQEELSAQAKVLAPGASHPGEEEGARLPEGKPVQVATPIVASSEAVAEK
  EGARKEERKPRMGLFHHHHQGLSRSELGRRSSLGEKGGPILGASPHHSSSGEEKAKSSWFGLREAKDPTQKPSPH
  PVKPLSAAPVEGSPDRKQSRSSLSIALSSGLEKLKTVTSGSIQPVTQAPQAGQMVDTKRLKDSAVLDQSAKYYHL
  THDELISLLLQRERELSQRDEHVQELESYIDRLLVRIMETSPTLLQIPPGPPK

• Structural information:
  • Protein Domains: (5..14-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (586..64-)
    (/note="FIP-RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00844"-)
  • Interpro: IPR000008  IPR035892  IPR037245  IPR037789  IPR019018  
  • Prosite: PS50004 PS51511
  • STRING: ENSP00000258098
• Other Databases: GeneCards:  RAB11FIP5  Malacards:  RAB11FIP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043015	gamma-tubulin binding	IDA	molecular function
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0070164	negative regulation of adiponectin secretion	IDA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0055037	recycling endosome	IBA	cellular component
GO:0045055	regulated exocytosis	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0030141	secretory granule	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0045335	phagocytic vesicle	IBA	cellular component
GO:0005769	early endosome	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0071468	cellular response to acidic pH	IDA	biological process
GO:2000008	regulation of protein localization to cell surface	IMP	biological process
GO:0055037	recycling endosome	ISS	cellular component
GO:0045055	regulated exocytosis	ISS	biological process
GO:0035773	insulin secretion involved in cellular response to glucose stimulus	ISS	biological process
GO:0030141	secretory granule	ISS	cellular component
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005769	early endosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray