• Gene id: 25924

Gene Summary

• Gene Symbol: MYRIP   Gene   UCSC   Ensembl
• Aliases: SLAC2-C, SLAC2C
• Gene name: myosin VIIA and Rab interacting protein
• Alternate names: rab effector MyRIP, Slp homologue lacking C2 domains, exophilin-8, myosin-VIIa- and Rab-interacting protein, slp homolog lacking C2 domains c, synaptotagmin-like protein homologue lacking C2 domains-c, synaptotagmin-like protein lacking C2 domains C,
• Gene location: 3p22.1 (39808913: 40260320)     Exons: 20     NC_000003.12
• OMIM: 611790

Protein Summary

• Protein general information: Q8NFW9  
  • Name: Rab effector MyRIP (Exophilin 8) (Myosin VIIa and Rab interacting protein) (Synaptotagmin like protein lacking C2 domains C) (SlaC2 c) (Slp homolog lacking C2 domains c)
  • Length: 859  
  • Mass: 95,706
• Sequence:

  MGRKLDLSGLTDDETEHVLQVVQRDFNLRKKEEERLSELKQKLDEEGSKCSILSKHQQFVEHCCMRCCSPFTFLV
  NTKRQCGDCKFNVCKSCCSYQKHEKAWVCCVCQQARLLRAQSLEWFYNNVKSRFKRFGSAKVLKNLYRKHRLESG
  ACFDILGGSLFESNLENEGSISGSDSTFYRQSEGHSVMDTLAVALRVAEEAIEEAISKAEAYGDSLDKQNEASYL
  RDHKEELTEELATTILQKIIRKQKSKSEQQVEEEPGWPHPQSCSTKVADEGTSASPGGYRAPAALWRSQSAFSIT
  GEEALKTPPVEAPSRQPRDQGQHPRAESALPSWKSVDRLDETNLAPVLQSPDGNWVALKDGAPPPTRLLAKPKSG
  TFQALEVASSVASAYDEMGSDSEEDFDWSEALSKLCPRSRALPRNPQPQPTQAQSSDQGPIAASPSSALSPNPEA
  MCSDSETSSAGSSREVGHQARLSWLQRKAPRNPAAEKMRLHGELDVNFNPQLASRETSDSSEPEEAPHTTDRRAR
  RWRRARLGSEEPSKEPSSPSAQLRDLDTHQVSDDLSETDISNEARDPQTLTDTTEEKRRNRLYELAMKMSEKETS
  SGEDQESEPKTESENQKESLSSEDNSQSVQEELKKKFSAVSLCNISTEVLKVINATEELIAGSTGPWESPQVPPD
  RQKGMFPRGTDQVRLDEQLTSLEENVYLAAGTVYGLETQLTELEDAARCIHSGTDETHLADLEDQVATAAAQVHH
  AELQISDIESRISALTIAGLNIAPCVRFTRRRDQKQRTQVQTIDTSRQQRRKLPAPPVKAEKIETSSVTTIKTFN
  HNFILQGSSTNRTKERKGTTKDLMEPALESAVMY

• Structural information:
  • Protein Domains: RabBD. (4-124)
  • Interpro: IPR006788  IPR010911  IPR011011  IPR013083  
  • Prosite: PS50916
  • DIP: 48949
  • STRING: ENSP00000301972
• Other Databases: GeneCards:  MYRIP  Malacards:  MYRIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000145	exocyst	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006886	intracellular protein transport	IEA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0017022	myosin binding	IEA	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0030133	transport vesicle	IEA	cellular component
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0031045	dense core granule	ISS	cellular component
GO:0032024	positive regulation of insulin secretion	ISS	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0051018	protein kinase A binding	IEA	molecular function
GO:0000145	exocyst	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0008270	zinc ion binding	NAS	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0017022	myosin binding	IEA	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0030133	transport vesicle	IEA	cellular component
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0031045	dense core granule	ISS	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032024	positive regulation of insulin secretion	ISS	biological process
GO:0042470	melanosome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051018	protein kinase A binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	NAS	molecular function
GO:0031045	dense core granule	ISS	cellular component
GO:0032024	positive regulation of insulin secretion	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component

Diseases

Associated diseases	References
Cardiovascular disease	GAD: 17903301
Azoospermia	MIK: 25439847
Azoospermia	MIK: 25439847
Azoospermia	MIK: 25439847
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25439847	Azoospermia			226 (19 with histologically confirmed meiotic arrest, 110 men with azoospermia in the absence of histologic data, 97 fertile men (controls))	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq