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

Gene ID: 25924, updated on 1-Jun-2020

Summary

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
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
Expression
Broad expression in brain (RPKM 7.4), spleen (RPKM 4.2) and 23 other tissues See more
Orthologs

Genomic context

See MYRIP in Genome Data Viewer
Location:
3p22.1
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (39808914..40260321)
105 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 uncharacterized LOC105377039 Neighboring gene RNA, U4 small nuclear 56, pseudogene Neighboring gene uncharacterized LOC105377645 Neighboring gene EIF1B antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 411, pseudogene Neighboring gene phosphoglycerate mutase 1 pseudogene 3 Neighboring gene eukaryotic translation initiation factor 1B

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44025, MGC130034, MGC130035, DKFZp586F1018

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cortical actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dense core granule ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
transport vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001284423.1NP_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
    Q8NFW9
    Related
    ENSP00000398665.1, ENST00000444716.5
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:152859
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  2. NM_001284424.2NP_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:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:152794
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  3. NM_001284425.1NP_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, AK125334, BC092512, BC109311, DN999201
    Consensus CDS
    CCDS68391.1
    UniProtKB/Swiss-Prot
    Q8NFW9
    Related
    ENSP00000379519.3, ENST00000396217.7
    Conserved Domains (1) summary
    pfam04698
    Location:68770
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  4. NM_001284426.1NP_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:1672
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
  5. NM_015460.4NP_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
    Q8NFW9
    Related
    ENSP00000301972.6, ENST00000302541.11
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:152859
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011531877.1

    UniProtKB/Swiss-Prot
    Q8NFW9
    Conserved Domains (2) summary
    pfam02318
    Location:8125
    FYVE_2; FYVE-type zinc finger
    pfam04698
    Location:152859
    Rab_eff_C; Rab effector MyRIP/melanophilin C-terminus
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