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    MYRIP myosin VIIA and Rab interacting protein [ Homo sapiens (human) ]

    Gene ID: 25924, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MYRIPprovided by HGNC
    Official Full Name
    myosin VIIA and Rab interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:19156
    See related
    Ensembl:ENSG00000170011 MIM:611790; AllianceGenome:HGNC:19156
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SLAC2C; SLAC2-C
    Summary
    Predicted to enable actin binding activity and myosin binding activity. Predicted to be involved in positive regulation of insulin secretion. Predicted to be located in dense core granule and perinuclear region of cytoplasm. Predicted to be part of exocyst. Predicted to be active in cortical actin cytoskeleton. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 7.4), spleen (RPKM 4.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYRIP in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (39808914..40260321)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (39822295..40275401)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (39850405..40301812)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NFU1 iron-sulfur cluster scaffold pseudogene 1 Neighboring gene MPRA-validated peak4615 silencer Neighboring gene uncharacterized LOC105377039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39919113-39919614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:39919615-39920114 Neighboring gene Sharpr-MPRA regulatory region 3241 Neighboring gene Sharpr-MPRA regulatory region 6637 Neighboring gene RNA, U4 small nuclear 56, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr3:40063846-40064360 Neighboring gene uncharacterized LOC124909367 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:40175064-40176263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19712 Neighboring gene EIF1B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19713 Neighboring gene RNA, 7SL, cytoplasmic 411, pseudogene Neighboring gene small nucleolar RNA SNORA64/SNORA10 family Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:40332291-40332837 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:40342216-40343415 Neighboring gene uncharacterized LOC124906228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14230 Neighboring gene eukaryotic translation initiation factor 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Interaction between MyRIP and the actin cytoskeleton regulates Weibel-Palade body trafficking and exocytosis. Conte IL, et al. J Cell Sci, 2016 Feb 1. PMID 26675235, Free PMC Article
    2. Myrip couples the capture of secretory granules by the actin-rich cell cortex and their attachment to the plasma membrane. Huet S, et al. J Neurosci, 2012 Feb 15. PMID 22396429, Free PMC Article
    3. Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis. Waselle L, et al. Mol Biol Cell, 2003 Oct. PMID 14517322, Free PMC Article
    4. Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells. Nightingale TD, et al. Blood, 2009 May 14. PMID 19270261, Free PMC Article
    5. Myosin Va acts in concert with Rab27a and MyRIP to regulate acute von-Willebrand factor release from endothelial cells. Rojo Pulido I, et al. Traffic, 2011 Oct. PMID 21740491

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The role of MyRIP in Ca(2+)-driven exocytosis requires both MyoVa- and actin-binding potential.
      Title: Interaction between MyRIP and the actin cytoskeleton regulates Weibel-Palade body trafficking and exocytosis.
    2. Myrip couples the retention of secretory granules in the cell cortex, their transport to the plasma membrane, and their attachment to the plasma membrane, thus promoting secretion.
      Title: Myrip couples the capture of secretory granules by the actin-rich cell cortex and their attachment to the plasma membrane.
    3. A Rab27a/MyRIP/myosin Va complex is involved in linking von-Willebrand factor (Vwf) to the peripheral actin cytoskeleton of endothelial cells to allow full maturation and prevent premature secretion of vWF.
      Title: Myosin Va acts in concert with Rab27a and MyRIP to regulate acute von-Willebrand factor release from endothelial cells.
    4. A new potentially protective effect was identified at rs2679798 in MYRIP.
      Title: Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    5. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells.
      Title: Rab27a and MyRIP regulate the amount and multimeric state of VWF released from endothelial cells.
    8. During primate spermiogenesis, dynein, myosin Va, MyRIP and Rab27b that compose microtubule-based and actin-based vesicle transport systems are actually present in the manchette and might possibly be involved in intramanchette transport.
      Title: Intramanchette transport during primate spermiogenesis: expression of dynein, myosin Va, motor recruiter myosin Va, VIIa-Rab27a/b interacting protein, and Rab27b in the manchette during human and monkey spermiogenesis.
    9. a molecular complex composed of Rab27A, MyRIP and myosin VIIa bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles
      Title: MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes.
    10. Slac2c/MyRIP is part of a complex mediating the interaction of secretory granules with cortical actin cytoskeleton
      Title: Involvement of the Rab27 binding protein Slac2c/MyRIP in insulin exocytosis.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of sleep and circadian phenotypes.
    EBI GWAS Catalog
    Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog
    Whole genome association scan for genetic polymorphisms influencing information processing speed.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44025, MGC130034, MGC130035, DKFZp586F1018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables myosin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cortical actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in dense core granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of exocyst IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rab effector MyRIP
    Names
    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

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001284423.2 → NP_001271352.1  rab effector MyRIP isoform a

      See identical proteins and their annotated locations for NP_001271352.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode isoform a.
      Source sequence(s)
      AB083783, AK125334, AK312412, BC092512
      Consensus CDS
      CCDS2689.1
      UniProtKB/Swiss-Prot
      B3KWM3, B3KWW4, B7Z2H1, B7Z9V3, G3XAI8, Q32M41, Q32M42, Q569F7, Q8IUF5, Q8NFW9, Q9Y3V4
      Related
      ENSP00000398665.1, ENST00000444716.5
      Conserved Domains (2) summary
      pfam02318
      Location:8 → 125
      FYVE_2; FYVE-type zinc finger
      pfam04698
      Location:152 → 859
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    2. NM_001284424.2 → NP_001271353.1  rab effector MyRIP isoform b

      See identical proteins and their annotated locations for NP_001271353.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AB083783, AC104163, AK126013, BC092512, CF138044
      Consensus CDS
      CCDS68390.1
      UniProtKB/Swiss-Prot
      Q8NFW9
      Related
      ENSP00000389323.1, ENST00000425621.5
      Conserved Domains (2) summary
      pfam02318
      Location:8 → 125
      FYVE_2; FYVE-type zinc finger
      pfam04698
      Location:152 → 794
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    3. NM_001284425.2 → NP_001271354.1  rab effector MyRIP isoform c

      See identical proteins and their annotated locations for NP_001271354.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region, resulting in translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AB083783, AC104163, AK125334, BC092512, BC109311, DN999201
      Consensus CDS
      CCDS68391.1
      UniProtKB/Swiss-Prot
      Q8NFW9
      Related
      ENSP00000379519.3, ENST00000396217.7
      Conserved Domains (1) summary
      pfam04698
      Location:68 → 770
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    4. NM_001284426.2 → NP_001271355.1  rab effector MyRIP isoform d

      See identical proteins and their annotated locations for NP_001271355.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB083783, AK125334, AK294714, AK316068, BC092512
      Consensus CDS
      CCDS68392.1
      UniProtKB/Swiss-Prot
      Q8NFW9
      Related
      ENSP00000438297.1, ENST00000539167.2
      Conserved Domains (1) summary
      pfam04698
      Location:1 → 672
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    5. NM_015460.4 → NP_056275.2  rab effector MyRIP isoform a

      See identical proteins and their annotated locations for NP_056275.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.
      Source sequence(s)
      AB083783, AC104163, AK125334, BC092512, CF138044
      Consensus CDS
      CCDS2689.1
      UniProtKB/Swiss-Prot
      B3KWM3, B3KWW4, B7Z2H1, B7Z9V3, G3XAI8, Q32M41, Q32M42, Q569F7, Q8IUF5, Q8NFW9, Q9Y3V4
      Related
      ENSP00000301972.6, ENST00000302541.11
      Conserved Domains (2) summary
      pfam02318
      Location:8 → 125
      FYVE_2; FYVE-type zinc finger
      pfam04698
      Location:152 → 859
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    RNA

    1. NR_104316.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB083783, AC104163, BC092512, BC109312, DN999201

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      39808914..40260321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533575.2 → XP_011531877.1  rab effector MyRIP isoform X1

      See identical proteins and their annotated locations for XP_011531877.1

      UniProtKB/Swiss-Prot
      B3KWM3, B3KWW4, B7Z2H1, B7Z9V3, G3XAI8, Q32M41, Q32M42, Q569F7, Q8IUF5, Q8NFW9, Q9Y3V4
      Conserved Domains (2) summary
      pfam02318
      Location:8 → 125
      FYVE_2; FYVE-type zinc finger
      pfam04698
      Location:152 → 859
      Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      39822295..40275401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346101.1 → XP_054202076.1  rab effector MyRIP isoform X1

      UniProtKB/Swiss-Prot
      B3KWM3, B3KWW4, B7Z2H1, B7Z9V3, G3XAI8, Q32M41, Q32M42, Q569F7, Q8IUF5, Q8NFW9, Q9Y3V4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFW9.2 GenPept UniProtKB/Swiss-Prot:Q8NFW9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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