MYRIP (myosin VIIA and Rab interacting protein)

Gene

• Entrez ID: 25924
• Gene name: Myosin VIIA and Rab interacting protein
• Gene symbol: MYRIP
• Synonyms (NCBI Gene): SLAC2-C, SLAC2C
• Chromosome: 3
• Chromosome location: 3p22.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027872	hsa-miR-96-5p	RNA-seq	32915890
MIRT1170494	hsa-miR-3140-3p	CLIP-seq
MIRT2049144	hsa-miR-1914	CLIP-seq
MIRT2049145	hsa-miR-3942-3p	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2049147	hsa-miR-4789-3p	CLIP-seq
MIRT2278193	hsa-miR-129-5p	CLIP-seq
MIRT2278194	hsa-miR-1299	CLIP-seq
MIRT2278195	hsa-miR-2278	CLIP-seq
MIRT1170494	hsa-miR-3140-3p	CLIP-seq
MIRT2278196	hsa-miR-3179	CLIP-seq
MIRT2049145	hsa-miR-3942-3p	CLIP-seq
MIRT2278197	hsa-miR-4427	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2278198	hsa-miR-628-5p	CLIP-seq
MIRT2278199	hsa-miR-656	CLIP-seq
MIRT2278200	hsa-miR-875-3p	CLIP-seq
MIRT2391299	hsa-miR-214	CLIP-seq
MIRT2391300	hsa-miR-3619-5p	CLIP-seq
MIRT2049146	hsa-miR-4690-5p	CLIP-seq
MIRT2391301	hsa-miR-761	CLIP-seq
MIRT2454747	hsa-miR-1243	CLIP-seq
MIRT2454748	hsa-miR-3654	CLIP-seq
MIRT2454749	hsa-miR-3668	CLIP-seq
MIRT2454750	hsa-miR-4699-5p	CLIP-seq
MIRT2454751	hsa-miR-7	CLIP-seq
MIRT2454747	hsa-miR-1243	CLIP-seq
MIRT2454748	hsa-miR-3654	CLIP-seq
MIRT2454749	hsa-miR-3668	CLIP-seq
MIRT2454750	hsa-miR-4699-5p	CLIP-seq
MIRT2454751	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000145	Component	Exocyst	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0003779	Function	Actin binding	IBA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	11964381, 17827149, 25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	NAS	11964381
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0017022	Function	Myosin binding	IBA
GO:0017022	Function	Myosin binding	IEA
GO:0030133	Component	Transport vesicle	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031045	Component	Dense core granule	ISS
GO:0031267	Function	Small GTPase binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032024	Process	Positive regulation of insulin secretion	ISS
GO:0042470	Component	Melanosome	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051018	Function	Protein kinase A binding	IEA

Other IDs

• MIM: 611790
• HGNC: 19156
• e!Ensembl: ENSG00000170011

Protein

• UniProt ID: Q8NFW9
• Protein 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)
• Protein function: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring prote
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02318	FYVE_2	8 → 125	FYVE-type zinc finger	Family
  PF04698	Rab_eff_C	152 → 859	Rab effector MyRIP/melanophilin C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.
• Sequence:

  MGRKLDLSGLTDDETEHVLQVVQRDFNLRKKEEERLSELKQKLDEEGSKCSILSKHQQFV
  EHCCMRCCSPFTFLVNTKRQCGDCKFNVCKSCCSYQKHEKAWVCCVCQQARLLRAQSLEW
  FYNNVKSRFKRFGSAKVLKNLYRKHRLESGACFDILGGSLFESNLENEGSISGSDSTFYR
  QSEGHSVMDTLAVALRVAEEAIEEAISKAEAYGDSLDKQNEASYLRDHKEELTEELATTI
  LQKIIRKQKSKSEQQVEEEPGWPHPQSCSTKVADEGTSASPGGYRAPAALWRSQSAFSIT
  GEEALKTPPVEAPSRQPRDQGQHPRAESALPSWKSVDRLDETNLAPVLQSPDGNWVALKD
  GAPPPTRLLAKPKSGTFQALEVASSVASAYDEMGSDSEEDFDWSEALSKLCPRSRALPRN
  PQPQPTQAQSSDQGPIAASPSSALSPNPEAMCSDSETSSAGSSREVGHQARLSWLQRKAP
  RNPAAEKMRLHGELDVNFNPQLASRETSDSSEPEEAPHTTDRRARRWRRARLGSEEPSKE
  PSSPSAQLRDLDTHQVSDDLSETDISNEARDPQTLTDTTEEKRRNRLYELAMKMSEKETS
  SGEDQESEPKTESENQKESLSSEDNSQSVQEELKKKFSAVSLCNISTEVLKVINATEELI
  AGSTGPWESPQVPPDRQKGMFPRGTDQVRLDEQLTSLEENVYLAAGTVYGLETQLTELED
  AARCIHSGTDETHLADLEDQVATAAAQVHHAELQISDIESRISALTIAGLNIAPCVRFTR
  RRDQKQRTQVQTIDTSRQQRRKLPAPPVKAEKIETSSVTTIKTFNHNFILQGSSTNRTKE
  RKGTTKDLMEPALESAVMY

• Sequence length: 859

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Carcinoma Hepatocellular	Associate	22065898	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	26345967	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	24135790	★☆☆☆☆ Found in Text Mining only
Heart Arrest	Associate	25439847	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	20861866	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Inhibit	20861866	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	26345967	★☆☆☆☆ Found in Text Mining only