Human Gene MYRIP (uc003cka.3)
  Description: Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr3:39,851,303-40,301,811 Size: 450,509 Total Exon Count: 17 Strand: +
Coding Region
   Position: hg19 chr3:39,942,308-40,299,657 Size: 357,350 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:39,851,303-40,301,811)mRNA (may differ from genome)Protein (859 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: MYRIP_HUMAN
DESCRIPTION: RecName: Full=Rab effector MyRIP; AltName: Full=Exophilin-8; AltName: Full=Myosin-VIIa- and Rab-interacting protein; AltName: Full=Synaptotagmin-like protein lacking C2 domains C; Short=SlaC2-c; Short=Slp homolog lacking C2 domains c;
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 protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity).
SUBUNIT: Binds MYO5A, MYO7A and F-actin (By similarity). Binds RAB27A that has been activated by GTP-binding via its N-terminus. Interacts with PRKAR2A. Interacts with components of the exocyst complex, including EXOC3 and EXOC4 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Cytoplasm, perinuclear region (By similarity). Cytoplasmic vesicle, secretory vesicle (By similarity). Note=In presynaptic and postsynaptic areas in photoreceptor cells and in the basal microvilli of retinal pigment epithelium cells. Associated with melanosomes. Colocalizes with actin filaments (By similarity).
TISSUE SPECIFICITY: Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.
SIMILARITY: Contains 1 FYVE-type zinc finger.
SIMILARITY: Contains 1 RabBD (Rab-binding) domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MYRIP
CDC HuGE Published Literature: MYRIP
Positive Disease Associations: Body Composition , Body Mass Index , Echocardiography , Natriuretic Peptide, Brain , Neurobehavioral Manifestations , Sleep , sleep duration
Related Studies:
  1. Body Composition
    , , . [PubMed 0]
  2. Body Composition
    , , . [PubMed 0]
  3. Body Composition
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MYRIP
Diseases sorted by gene-association score: griscelli syndrome, type 3 (6), griscelli syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.27 RPKM in Brain - Amygdala
Total median expression: 148.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.20135-0.387 Picture PostScript Text
3' UTR -569.312154-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006788 - Myrip/Melanophilin
IPR010911 - Rab-bd_domain
IPR011011 - Znf_FYVE_PHD
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF02318 - FYVE-type zinc finger
PF04698 - Rab effector MyRIP/melanophilin C-terminus

SCOP Domains:
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8NFW9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0017022 myosin binding
GO:0017137 Rab GTPase binding
GO:0046872 metal ion binding
GO:0051018 protein kinase A binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0030050 vesicle transport along actin filament
GO:0032024 positive regulation of insulin secretion

Cellular Component:
GO:0000145 exocyst
GO:0001750 photoreceptor outer segment
GO:0005737 cytoplasm
GO:0015629 actin cytoskeleton
GO:0030133 transport vesicle
GO:0030864 cortical actin cytoskeleton
GO:0031045 dense core granule
GO:0031410 cytoplasmic vesicle
GO:0042470 melanosome
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK312412 - Homo sapiens cDNA, FLJ92749.
BC092512 - Homo sapiens myosin VIIA and Rab interacting protein, mRNA (cDNA clone MGC:104940 IMAGE:3093499), complete cds.
AK126013 - Homo sapiens cDNA FLJ44025 fis, clone TESTI4026700, highly similar to Rab effector MyRIP.
AF396687 - Homo sapiens rab effector MYRIP (MYRIP) mRNA, complete cds.
BC109311 - Homo sapiens myosin VIIA and Rab interacting protein, mRNA (cDNA clone MGC:130034 IMAGE:40036096), complete cds.
BC109312 - Homo sapiens myosin VIIA and Rab interacting protein, mRNA (cDNA clone MGC:130035 IMAGE:40036097), complete cds.
AK310972 - Homo sapiens cDNA, FLJ18014.
AB083783 - Homo sapiens slac2-c mRNA for Slp homologue lacking C2 domains-c, complete cds.
KJ905446 - Synthetic construct Homo sapiens clone ccsbBroadEn_15029 MYRIP gene, encodes complete protein.
AK125334 - Homo sapiens cDNA FLJ43344 fis, clone NT2RI3008162, highly similar to Rab effector MyRIP.
AK316068 - Homo sapiens cDNA, FLJ78967 complete cds, highly similar to Rab effector MyRIP.
AK294714 - Homo sapiens cDNA FLJ56979 complete cds, highly similar to Rab effector MyRIP.
JD345037 - Sequence 326061 from Patent EP1572962.
AL050090 - Homo sapiens mRNA; cDNA DKFZp586F1018 (from clone DKFZp586F1018).
JD244100 - Sequence 225124 from Patent EP1572962.
JD099701 - Sequence 80725 from Patent EP1572962.
JD248171 - Sequence 229195 from Patent EP1572962.
JD052206 - Sequence 33230 from Patent EP1572962.
JD313425 - Sequence 294449 from Patent EP1572962.
JD465910 - Sequence 446934 from Patent EP1572962.
JD158182 - Sequence 139206 from Patent EP1572962.
JD445561 - Sequence 426585 from Patent EP1572962.
JD205872 - Sequence 186896 from Patent EP1572962.
JD067336 - Sequence 48360 from Patent EP1572962.
JD362597 - Sequence 343621 from Patent EP1572962.
JD311015 - Sequence 292039 from Patent EP1572962.
JD278573 - Sequence 259597 from Patent EP1572962.
JD218610 - Sequence 199634 from Patent EP1572962.
JD453983 - Sequence 435007 from Patent EP1572962.
JD351610 - Sequence 332634 from Patent EP1572962.
JD355030 - Sequence 336054 from Patent EP1572962.
JD258057 - Sequence 239081 from Patent EP1572962.
JD467645 - Sequence 448669 from Patent EP1572962.
JD074448 - Sequence 55472 from Patent EP1572962.
JD281897 - Sequence 262921 from Patent EP1572962.
JD046208 - Sequence 27232 from Patent EP1572962.
JD092195 - Sequence 73219 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NFW9 (Reactome details) participates in the following event(s):

R-HSA-264876 Insulin processing
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B3KWM3, B3KWW4, B7Z2H1, B7Z9V3, G3XAI8, MYRIP_HUMAN, NM_015460, NP_056275, Q32M41, Q569F7, Q8IUF5, Q8NFW9, Q9Y3V4, SLAC2C
UCSC ID: uc003cka.3
RefSeq Accession: NM_015460
Protein: Q8NFW9 (aka MYRIP_HUMAN or MRIP_HUMAN)
CCDS: CCDS2689.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015460.2
exon count: 17CDS single in 3' UTR: no RNA size: 4884
ORF size: 2580CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5325.50frame shift in genome: no % Coverage: 99.69
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.