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RASIP1 Gene

protein-coding   GIFtS: 54
GCID: GC19M049223

Ras Interacting Protein 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ras Interacting Protein 11 2
RAIN2 5
Ras-Interacting Protein 12
Rain3

External Ids:    HGNC: 247161   Entrez Gene: 549222   Ensembl: ENSG000001055387   OMIM: 6096235   UniProtKB: Q5U6513   
ORGUL members:         

Export aliases for RASIP1 gene to outside databases

Previous GC identifers: GC19M053916 GC19M053917 GC19M045604


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RASIP1 Gene:
RASIP1 (Ras interacting protein 1) is a protein-coding gene. An important paralog of this gene is RADIL.

UniProtKB/Swiss-Prot: RAIN_HUMAN, Q5U651
Function: Required for the proper formation of vascular structures that develop via both vasculogenesis and
angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and
adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the
activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9
activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like
proteins. May promote HRAS-mediated transformation. Negative regulator of amino acid starvation-induced autophagy




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RASIP1 gene promoter:
         p300   MyoD   STAT3   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRASIP1 promoter sequence
   Search Chromatin IP Primers for RASIP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RASIP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

RASIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASIP1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M049223:  view genomic region     (about GC identifiers)

Start:
49,223,842 bp from pter      End:
49,243,978 bp from pter
Size:
20,137 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RAIN_HUMAN, Q5U651 (See protein sequence)
Recommended Name: Ras-interacting protein 1  
Size: 963 amino acids; 103457 Da
Subunit: Interacts with Ras family members that have been activated by GTP binding. Interacts with HRAS, RAP1A,
RAP2, RRAS, RAF1 and RRAS2. Interacts with MYH9 and ARHGAP29 (By similarity)
Secondary accessions: Q6U676

Explore the universe of human proteins at neXtProt for RASIP1: NX_Q5U651

Explore proteomics data for RASIP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RASIP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060275.2  
    ENSEMBL proteins: 
     ENSP00000222145   ENSP00000471633  

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    antibodies-online peptides for RASIP1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR008984 SMAD_FHA_domain
     IPR018444 Dil_domain
     IPR002710 Dilute
     IPR000159 Ras-assoc
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q5U651

    ProtoNet protein and cluster: Q5U651

    1 Blocks protein domain: IPB000159 RA domain

    UniProtKB/Swiss-Prot: RAIN_HUMAN, Q5U651
    Similarity: Contains 1 dilute domain
    Similarity: Contains 1 Ras-associating domain


    Find genes that share domains with RASIP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAIN_HUMAN, Q5U651
    Function: Required for the proper formation of vascular structures that develop via both vasculogenesis and
    angiogenesis. Acts as a critical and vascular-specific regulator of GTPase signaling, cell architecture, and
    adhesion, which is essential for endothelial cell morphogenesis and blood vessel tubulogenesis. Regulates the
    activity of Rho GTPases in part by recruiting ARHGAP29 and suppressing RhoA signaling and dampening ROCK and MYH9
    activities in endothelial cells (By similarity). May act as effector for Golgi-bound HRAS and other Ras-like
    proteins. May promote HRAS-mediated transformation. Negative regulator of amino acid starvation-induced autophagy

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with RASIP1           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rasip1):
     cardiovascular system  cellular  embryogenesis  growth/size/body  homeostasis/metabolism 
     integument  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with RASIP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rasip1tm1.1Wye for RASIP1

       genOway: Develop your customized and physiologically relevant rodent model for RASIP1

    miRNA
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    miRTarBase miRNAs that target RASIP1:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAIN_HUMAN, Q5U651: Cytoplasm, perinuclear region. Golgi apparatus, Golgi stack. Note=Associated with
    perinuclear vesicles. Is recruited to Golgi stacks by activated HRAS
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005795Golgi stack IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with RASIP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RASIP1
    Interactions:

        Search GeneGlobe Interaction Network for RASIP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RASIP1 (Q5U6513 ENSP000002221454) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HRASP011123, ENSP000003098454I2D: score=3 STRING: ENSP00000309845
    MRASO148073, ENSP000002891044I2D: score=1 STRING: ENSP00000289104
    RAP1AP628343, ENSP000003487864I2D: score=1 STRING: ENSP00000348786
    RAP2AP101143, ENSP000002453044I2D: score=2 STRING: ENSP00000245304
    RRASP103013, ENSP000002467924I2D: score=1 STRING: ENSP00000246792
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis ISS--
    GO:0001570vasculogenesis ISS--
    GO:0007165signal transduction IEA--
    GO:0010507negative regulation of autophagy IMP--
    GO:0032319regulation of Rho GTPase activity ISS--

    Find genes that share ontologies with RASIP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RASIP1 (RAIN)

    1 HMDB Compound for RASIP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RASIP1 gene: 
    NM_017805.2  

    Unigene Cluster for RASIP1:

    Ras interacting protein 1
    Hs.233955  [show with all ESTs]
    Unigene Representative Sequence: NM_017805
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601530 ENST00000222145(uc002pkh.3 uc002pki.3) ENST00000599291
    ENST00000594232
    miRNA
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    hsa-miR-498 hsa-miR-137
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      QuantiTect SYBR Green Assays in human, mouse, rat RASIP1
      QuantiFast Probe-based Assays in human, mouse, rat RASIP1

    Additional mRNA sequence: 

    AK000408.1 AY378097.1 BC021860.1 BC028614.1 BC042111.1 

    4 DOTS entries:

    DT.207162  DT.121466014  DT.95187831  DT.95192882 

    Selected AceView cDNA sequences (see all 68):

    BM906443 NM_017805 AW969501 CR608210 AI143393 BF516076 AI241453 BE856162 
    AA503542 AK123179 BM694838 BF197429 BC021860 AW772163 BX089325 AK000408 
    BC050460 BC042111 BX389914 AA383134 BC034769 AL556313 AI830353 R80760 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RASIP1    About this scheme

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


    ECgene alternative splicing isoforms for RASIP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RASIP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTTAGGAT
    RASIP1 Expression
    About this image


    RASIP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Body Subcutaneous White Adipose
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    RASIP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RASIP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.233955

    UniProtKB/Swiss-Prot: RAIN_HUMAN, Q5U651
    Tissue specificity: Highly expressed in heart. Detected at lower levels in placenta and pancreas

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RASIP1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rasip11 , 5 Ras interacting protein 11, 5 85.41(n)1
    94.03(a)1
      7 (29.39 cM)5
    699031  NM_028544.11  NP_082820.11 
     456274885 
    lizard
    (Anolis carolinensis)
    Reptilia RASIP16
    Ras interacting protein 1
    54(a)
    1 ↔ 1
    GL343279.1(1150330-1167144)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rasip11 Ras interacting protein 1 58.65(n)
    58.57(a)
      100493560  XM_004916253.1  XP_004916310.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001511301 ras-interacting protein 1-like 52.7(n)
    47.71(a)
      100151130  XM_001921544.4  XP_001921579.4 


    ENSEMBL Gene Tree for RASIP1 (if available)
    TreeFam Gene Tree for RASIP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RASIP1 gene
    RADIL2  
    1 SIMAP similar gene for RASIP1 using alignment to 4 protein entries:     RAIN_HUMAN (see all proteins):
    RADIL

    Find genes that share paralogs with RASIP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RASIP1 (see all 408)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1443962801,2
    --49225021(+) CGCCAC/TTGCAC 1 -- int10--------
    rs1996655731,2
    C,F--49225081(+) TGACAA/G/TCCCCA 1 -- int11EU 1324
    rs1998796011,2
    C--49225086(+) GCCCCA/GATGCT 1 -- int11Minor allele frequency- G:0.00EU 1323
    rs2009820631,2
    --49225094(+) GCTGTA/GTCCCA 1 -- int10--------
    rs735837931,2
    C,F--49225095(+) CTGTAT/ACCCAT 1 -- int13Minor allele frequency- A:0.00WA EU 1443
    rs1999908471,2
    --49225156(+) CGCGGC/TTGGCG 2 T A mis10--------
    rs2021636931,2
    C--49225231(+) GGGGTA/GGTCGG 2 H Y mis10--------
    rs1487608401,2
    --49225339(+) GGGGAA/GTGGGT 1 -- int10--------
    rs1881656031,2
    --49225413(+) AAAGTA/GATGGT 1 -- int10--------
    rs1448441381,2
    C--49225521(+) CCATTA/CGTTTA 1 -- int10--------

    HapMap Linkage Disequilibrium report for RASIP1 (49223842 - 49243978 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for RASIP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3967n71CNV Loss21882294
    dgv3968n71CNV Loss21882294
    nsv912237CNV Loss21882294
    nsv912239CNV Loss21882294
    nsv912242CNV Loss21882294
    nsv912236CNV Gain21882294
    nsv912238CNV Gain21882294
    nsv9739CNV Gain+Loss18304495

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609623    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for RASIP1:
    Sotos syndrome

    Find genes that share disorders with RASIP1           About GenesLikeMe

    Genetic Association Database (GAD): RASIP1
    Human Genome Epidemiology (HuGE) Navigator: RASIP1 (2 documents)

    Export disorders for RASIP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RASIP1 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with RASIP1)
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    1. Identification and characterization of Rain, a novel Ras-interacting protein with a unique subcellular localization. (PubMed id 15031288)1, 2, 3, 9 Mitin N.Y....Taparowsky E.J. (J. Biol. Chem. 2004)
    2. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1, 4 (Nat. Genet. 2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. (PubMed id 21060863)1, 4 Ikram M.K....Wong T.Y. (PLoS Genet. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Rasip1 mediates Rap1 regulation of Rho in endothelial barrier function through ArhGAP29. (PubMed id 23798437)1 Post A....Bos J.L. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    7. Novel locus including FGF21 is associated with dietary macronutrient intake. (PubMed id 23372041)1 Chu A.Y....Qi L. (Hum. Mol. Genet. 2013)
    8. Genome-wide siRNA screen reveals amino acid starvation-induced autophagy requires SCOC and WAC. (PubMed id 22354037)2 McKnight N.C.... Tooze S.A. (EMBO J. 2012)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 54922 HGNC: 24716 AceView: RASIP1andMGC34799 Ensembl:ENSG00000105538 euGenes: HUgn54922
    ECgene: RASIP1 H-InvDB: RASIP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RASIP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RASIP1 gene:
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    GeneCards and IP:
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