Aliases for MYRIP Gene

Aliases for MYRIP Gene

  • Myosin VIIA And Rab Interacting Protein 2 3 5
  • Exophilin-8 2 3 4
  • SLAC2C 2 3 4
  • Synaptotagmin-Like Protein Homologue Lacking C2 Domains-C 2 3
  • Synaptotagmin-Like Protein Lacking C2 Domains C 3 4
  • Myosin-VIIa- And Rab-Interacting Protein 3 4
  • Slp Homologue Lacking C2 Domains 2 3
  • Slp Homolog Lacking C2 Domains C 3 4
  • Rab Effector MyRIP 3 4
  • SLAC2-C 2 3
  • Rab Effector MYRIP 2
  • DKFZp586F1018 2
  • SlaC2-C 4
  • MYRIP 5

External Ids for MYRIP Gene

Previous GeneCards Identifiers for MYRIP Gene

  • GC03P039190
  • GC03P039084
  • GC03P039664
  • GC03P039811

Summaries for MYRIP Gene

GeneCards Summary for MYRIP Gene

MYRIP (Myosin VIIA And Rab Interacting Protein) is a Protein Coding gene. Diseases associated with MYRIP include Deafness, Autosomal Dominant 50 and Griscelli Syndrome, Type 1. Among its related pathways are Peptide hormone metabolism and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include actin binding and protein kinase A binding. An important paralog of this gene is MLPH.

UniProtKB/Swiss-Prot Summary for MYRIP Gene

  • 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).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYRIP Gene

Genomics for MYRIP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYRIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J039808 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 257.3 +1.0 987 3 ZIC2 ZBTB10 BHLHE40 SIN3A SIN3B ZBTB48 TCF7L2 ZNF189 REST NRF1 MYRIP HSALNG0025306 piR-38580-202 EIF1B
GH03J039910 Enhancer 0.9 Ensembl ENCODE 5.7 +102.3 102315 2.9 FOXA2 SAP130 RARA DMAP1 FOSL2 JUND FOXP1 SOX5 CTCF HMG20A ENSG00000202517 MYRIP TTC21A piR-38580-202 HSALNG0025306 HSALNG0025307 EIF1B
GH03J039907 Enhancer 0.5 Ensembl 8.4 +99.1 99087 2.8 ATF3 RXRA RAD21 REST MAX SP1 EP300 NR2F2 ENSG00000202517 MYRIP piR-38580-202 HSALNG0025306 HSALNG0025307 EIF1B
GH03J039961 Enhancer 0.6 Ensembl ENCODE 7.7 +152.8 152787 3.8 RAD21 SP1 NR2F2 MYRIP RF00015-039 RNU4-56P piR-38580-202 HSALNG0025307 EIF1B
GH03J039869 Enhancer 0.5 Ensembl 8.6 +61.3 61287 1.2 YY1 JUND ATF2 CREB1 ATF7 NR2F2 MYRIP piR-38580-202 HSALNG0025306 HSALNG0025307 EIF1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYRIP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYRIP

Top Transcription factor binding sites by QIAGEN in the MYRIP gene promoter:
  • AhR
  • Arnt
  • c-Myc
  • CBF(2)
  • CBF-A
  • CBF-B
  • E47
  • Max1
  • Tal-1
  • XBP-1

Genomic Locations for MYRIP Gene

Latest Assembly
chr3:39,808,914-40,260,321
(GRCh38/hg38)
Size:
451,408 bases
Orientation:
Plus strand

Previous Assembly
chr3:39,850,405-40,301,812
(GRCh37/hg19 by Entrez Gene)
Size:
451,408 bases
Orientation:
Plus strand

chr3:39,850,405-40,301,812
(GRCh37/hg19 by Ensembl)
Size:
451,408 bases
Orientation:
Plus strand

Genomic View for MYRIP Gene

Genes around MYRIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYRIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYRIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYRIP Gene

Proteins for MYRIP Gene

  • Protein details for MYRIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW9-MYRIP_HUMAN
    Recommended name:
    Rab effector MyRIP
    Protein Accession:
    Q8NFW9
    Secondary Accessions:
    • B3KWM3
    • B3KWW4
    • B7Z2H1
    • B7Z9V3
    • G3XAI8
    • Q32M41
    • Q32M42
    • Q569F7
    • Q8IUF5
    • Q9Y3V4

    Protein attributes for MYRIP Gene

    Size:
    859 amino acids
    Molecular mass:
    95706 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for MYRIP Gene

neXtProt entry for MYRIP Gene

Post-translational modifications for MYRIP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MYRIP Gene

Domains & Families for MYRIP Gene

Gene Families for MYRIP Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MYRIP Gene

InterPro:
Blocks:
  • Zn-finger, FYVE type

Suggested Antigen Peptide Sequences for MYRIP Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56979, highly similar to Rab effector MyRIP (B7Z2H1_HUMAN)
  • Slp homolog lacking C2 domains c (MYRIP_HUMAN)
genes like me logo Genes that share domains with MYRIP: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYRIP Gene

Function for MYRIP Gene

Molecular function for MYRIP Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for MYRIP Gene

Gene Ontology (GO) - Molecular Function for MYRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IBA 21873635
GO:0005515 protein binding IPI 11964381
GO:0008270 zinc ion binding NAS 11964381
GO:0017022 myosin binding IBA 21873635
GO:0017137 Rab GTPase binding IEA --
genes like me logo Genes that share ontologies with MYRIP: view
genes like me logo Genes that share phenotypes with MYRIP: view

Animal Models for MYRIP Gene

MGI Knock Outs for MYRIP:
  • Myrip Myrip<tm1Tiz>
  • Myrip Myrip<tm1.1(KOMP)Vlcg>

miRNA for MYRIP Gene

miRTarBase miRNAs that target MYRIP

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYRIP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYRIP Gene

Localization for MYRIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYRIP Gene

Cytoplasm. Cytoplasm, perinuclear region. Cytoplasmic vesicle, secretory vesicle. 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. {ECO:0000250 UniProtKB:Q7TNY7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYRIP gene
Compartment Confidence
cytoskeleton 4
cytosol 3
plasma membrane 2
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli fibrillar center (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000145 exocyst IEA --
GO:0001750 photoreceptor outer segment IEA --
GO:0005737 cytoplasm IEA --
GO:0015629 actin cytoskeleton IEA --
GO:0030133 transport vesicle IEA --
genes like me logo Genes that share ontologies with MYRIP: view

Pathways & Interactions for MYRIP Gene

genes like me logo Genes that share pathways with MYRIP: view

Pathways by source for MYRIP Gene

Gene Ontology (GO) - Biological Process for MYRIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0032024 positive regulation of insulin secretion ISS --
genes like me logo Genes that share ontologies with MYRIP: view

No data available for SIGNOR curated interactions for MYRIP Gene

Drugs & Compounds for MYRIP Gene

(1) Drugs for MYRIP Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with MYRIP: view

Transcripts for MYRIP Gene

mRNA/cDNA for MYRIP Gene

5 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYRIP

Alternative Splicing Database (ASD) splice patterns (SP) for MYRIP Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: -
SP2: - -
SP3:
SP4: - -
SP5: - - -

Relevant External Links for MYRIP Gene

GeneLoc Exon Structure for
MYRIP

Expression for MYRIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYRIP Gene

mRNA differential expression in normal tissues according to GTEx for MYRIP Gene

This gene is overexpressed in Brain - Amygdala (x7.1) and Brain - Anterior cingulate cortex (BA24) (x5.1).

Protein differential expression in normal tissues from HIPED for MYRIP Gene

This gene is overexpressed in Ovary (28.3), Brain (18.2), and Liver (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYRIP Gene



Protein tissue co-expression partners for MYRIP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYRIP

SOURCE GeneReport for Unigene cluster for MYRIP Gene:

Hs.594535

mRNA Expression by UniProt/SwissProt for MYRIP Gene:

Q8NFW9-MYRIP_HUMAN
Tissue specificity: Detected in brain, skin, heart, adrenal medulla, pancreas, intestine, liver, kidney, muscle and testis.

Evidence on tissue expression from TISSUES for MYRIP Gene

  • Nervous system(4.7)
  • Eye(4.4)
  • Liver(4.3)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with MYRIP: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MYRIP Gene

Orthologs for MYRIP Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYRIP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MYRIP 29 30
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYRIP 29 30
  • 86.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MYRIP 29 30
  • 85.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Myrip 29 16 30
  • 81.77 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Myrip 29
  • 80.99 (n)
Oppossum
(Monodelphis domestica)
Mammalia MYRIP 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MYRIP 30
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MYRIP 29 30
  • 69.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYRIP 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia myrip 29
  • 64.27 (n)
Zebrafish
(Danio rerio)
Actinopterygii myrip 29 30
  • 59.57 (n)
OneToMany
MYRIP (2 of 2) 30
  • 29 (a)
OneToMany
Species where no ortholog for MYRIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MYRIP Gene

ENSEMBL:
Gene Tree for MYRIP (if available)
TreeFam:
Gene Tree for MYRIP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYRIP: view image
Alliance of Genome Resources:
Additional Orthologs for MYRIP

Paralogs for MYRIP Gene

Paralogs for MYRIP Gene

(3) SIMAP similar genes for MYRIP Gene using alignment to 3 proteins:

  • MYRIP_HUMAN
  • F8WFC5_HUMAN
  • Q32M42_HUMAN
genes like me logo Genes that share paralogs with MYRIP: view

Variants for MYRIP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYRIP Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs144535737 Benign: not provided 40,167,243(+) G/A
NM_015460.4(MYRIP):c.729+4G>A
INTRON
rs144807590 Benign: not provided 40,182,317(+) C/T
NM_015460.4(MYRIP):c.971C>T (p.Pro324Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs150468012 Benign: not provided 40,244,574(+) G/A
NM_015460.4(MYRIP):c.2229G>A (p.Thr743=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs56248790 Benign: not provided 40,044,269(+) G/A
NM_015460.4(MYRIP):c.330G>A (p.Ala110=)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs71331109 Benign: not provided 40,189,926(+) G/A
NM_015460.4(MYRIP):c.1128G>A (p.Thr376=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MYRIP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MYRIP Gene

Variant ID Type Subtype PubMed ID
dgv2511n106 CNV deletion 24896259
dgv886e214 CNV loss 21293372
esv1251654 CNV insertion 17803354
esv1407814 CNV insertion 17803354
esv1686953 CNV insertion 17803354
esv1700873 CNV insertion 17803354
esv2656601 CNV deletion 23128226
esv2663421 CNV deletion 23128226
esv2725181 CNV deletion 23290073
esv2725182 CNV deletion 23290073
esv2725183 CNV deletion 23290073
esv2725184 CNV deletion 23290073
esv2725186 CNV deletion 23290073
esv2725187 CNV deletion 23290073
esv3305645 CNV mobile element insertion 20981092
esv3561772 CNV deletion 23714750
esv3561773 CNV deletion 23714750
esv3568708 CNV loss 25503493
esv3595938 CNV loss 21293372
esv3595939 CNV gain 21293372
esv3595941 CNV loss 21293372
esv3595943 CNV loss 21293372
esv3595945 CNV loss 21293372
esv3893684 CNV loss 25118596
esv4522 CNV loss 18987735
nsv1003770 CNV loss 25217958
nsv1013962 CNV loss 25217958
nsv1109509 CNV deletion 24896259
nsv1129693 CNV tandem duplication 24896259
nsv1136719 CNV deletion 24896259
nsv1152286 CNV duplication 26484159
nsv1160933 CNV duplication 26073780
nsv3773 CNV insertion 18451855
nsv460510 CNV loss 19166990
nsv470538 CNV loss 18288195
nsv472239 CNV novel sequence insertion 20440878
nsv472540 CNV novel sequence insertion 20440878
nsv475451 CNV novel sequence insertion 20440878
nsv477530 CNV novel sequence insertion 20440878
nsv509823 OTHER sequence alteration 20534489
nsv512798 CNV insertion 21212237
nsv517803 CNV gain 19592680
nsv520165 CNV gain 19592680
nsv523927 CNV loss 19592680
nsv590109 CNV loss 21841781
nsv834667 CNV gain 17160897
nsv963311 CNV duplication 23825009

Variation tolerance for MYRIP Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.92; 74.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYRIP Gene

Human Gene Mutation Database (HGMD)
MYRIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYRIP
Leiden Open Variation Database (LOVD)
MYRIP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYRIP Gene

Disorders for MYRIP Gene

MalaCards: The human disease database

(6) MalaCards diseases for MYRIP Gene - From: COP

Disorder Aliases PubMed IDs
deafness, autosomal dominant 50
  • dfna50
griscelli syndrome, type 1
  • gs1
griscelli syndrome
  • chediak-higashi-like syndrome
griscelli syndrome, type 3
  • gs3
autosomal dominant nonsyndromic deafness
  • autosomal dominant deafness
- elite association - COSMIC cancer census association via MalaCards
Search MYRIP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MYRIP

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MYRIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYRIP Gene

Publications for MYRIP Gene

  1. Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin. (PMID: 12221080) Fukuda M … Kuroda TS (The Journal of biological chemistry 2002) 2 3 4 22
  2. MyRIP anchors protein kinase A to the exocyst complex. (PMID: 17827149) Goehring AS … Scott JD (The Journal of biological chemistry 2007) 2 3 4
  3. MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. (PMID: 11964381) El-Amraoui A … Petit C (EMBO reports 2002) 2 3 4
  4. Whole genome association scan for genetic polymorphisms influencing information processing speed. (PMID: 21130836) Luciano M … Deary IJ (Biological psychology 2011) 3 40
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for MYRIP Gene

Sources for MYRIP Gene