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RASIP1 Ras interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 54922, updated on 13-Mar-2020

Summary

Official Symbol
RASIP1provided by HGNC
Official Full Name
Ras interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:24716
See related
Ensembl:ENSG00000105538 MIM:609623
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
RAIN
Expression
Broad expression in fat (RPKM 11.9), spleen (RPKM 8.9) and 23 other tissues See more
Orthologs

Genomic context

See RASIP1 in Genome Data Viewer
Location:
19q13.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48720585..48740833, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49223842..49244136, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105447645 Neighboring gene fucosyltransferase 2 Neighboring gene MEF2 activating motif and SAP domain containing transcriptional regulator Neighboring gene izumo sperm-egg fusion 1 Neighboring gene fucosyltransferase 1 (H blood group) Neighboring gene FGF21/FUT1 promoter region

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
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
NHGRI GWA Catalog
Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.
NHGRI GWA Catalog
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
NHGRI GWA Catalog
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
Novel locus including FGF21 is associated with dietary macronutrient intake.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20401

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
branching morphogenesis of an epithelial tube ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Rho-dependent protein serine/threonine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of membrane permeability IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of integrin activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

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_017805.3NP_060275.2  ras-interacting protein 1

    See identical proteins and their annotated locations for NP_060275.2

    Status: VALIDATED

    Source sequence(s)
    BC021860, BC028614, BC042111
    Consensus CDS
    CCDS12731.1
    UniProtKB/Swiss-Prot
    Q5U651
    UniProtKB/TrEMBL
    Q7L251, Q8IUR2
    Related
    ENSP00000222145.3, ENST00000222145.9
    Conserved Domains (2) summary
    cd15472
    Location:551913
    Myo5p-like_CBD_Rasip1; cargo binding domain of myosin 5-like of Ras-interacting protein 1
    pfam00788
    Location:144258
    RA; Ras association (RalGDS/AF-6) domain

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    48720585..48740833 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026915.1XP_016882404.1  ras-interacting protein 1 isoform X5

  2. XM_024451567.1XP_024307335.1  ras-interacting protein 1 isoform X4

    Conserved Domains (2) summary
    pfam00788
    Location:245359
    RA; Ras association (RalGDS/AF-6) domain
    cl03379
    Location:652901
    Myo5-like_CBD; Cargo binding domain of myosin 5 and similar proteins
  3. XM_011527053.2XP_011525355.2  ras-interacting protein 1 isoform X2

  4. XM_024451566.1XP_024307334.1  ras-interacting protein 1 isoform X1

    Conserved Domains (2) summary
    cd15472
    Location:652999
    Myo5p-like_CBD_Rasip1; cargo binding domain of myosin 5-like of Ras-interacting protein 1
    pfam00788
    Location:245359
    RA; Ras association (RalGDS/AF-6) domain

RNA

  1. XR_001753712.1 RNA Sequence

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