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RAPH1 Gene

protein-coding   GIFtS: 54
GCID: GC02M204259

Ras Association (RalGDS/AF-6) And Pleckstrin Homology Domains...

(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...)
(Previous symbols: ALS2CR9, ALS2CR18)
  See related diseases
at  

(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 Association (RalGDS/AF-6) And Pleckstrin Homology Domains 11 2     RMO12 3
ALS2CR181 2 3     Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region1
ALS2CR91 2 3     Candidate 181
Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 91 2     RalGDS/AF-62
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 18
Protein2 3
     Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 182
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 9
Protein2 3
     lamellipodin2
Proline-Rich EVH1 Ligand 22 3     Ras-Associated And Pleckstrin Homology Domains-Containing Protein 12
LPD2 3     KIAA16813
PREL-22 3     Lamellipodin3
PREL22 3     Protein RMO13

External Ids:    HGNC: 144361   Entrez Gene: 650592   Ensembl: ENSG000001731667   OMIM: 6090355   UniProtKB: Q70E733   

Export aliases for RAPH1 gene to outside databases

Previous GC identifers: GC02M204503 GC02M204501 GC02M204124 GC02M204006 GC02M196146


(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 RAPH1 Gene:
RAPH1 (Ras association (RalGDS/AF-6) and pleckstrin homology domains 1) is a protein-coding gene. Diseases associated with RAPH1 include amyotrophic lateral sclerosis 2, juvenile, and lateral sclerosis. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is APBB1IP.

UniProtKB/Swiss-Prot: RAPH1_HUMAN, Q70E73
Function: Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics.
Negatively regulates cell adhesion

Gene Wiki entry for RAPH1 Gene


(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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAPH1 gene promoter:
         GR   GR-alpha   Pax-4a   Cdc5   NF-AT   Roaz   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RAPH1 promoter sequence
   Search Chromatin IP Primers for RAPH1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAPH1


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.2   HGNC cytogenetic band: 2q33

RAPH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAPH1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M204259:  view genomic region     (about GC identifiers)

Start:
204,259,068 bp from pter      End:
204,400,133 bp from pter
Size:
141,066 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RAPH1_HUMAN, Q70E73 (See protein sequence)
Recommended Name: Ras-associated and pleckstrin homology domains-containing protein 1  
Size: 1250 amino acids; 135256 Da
Subunit: Interacts with EVL and VASP and targets them to the leading edge
2 PDB 3D structures from and Proteopedia for RAPH1:
4GMV (3D)        4GN1 (3D)    
Secondary accessions: Q96Q37 Q9C0I2
Alternative splicing: 9 isoforms:  Q70E73-10   Q70E73-2   Q70E73-3   Q70E73-4   Q70E73-5   Q70E73-6   Q70E73-7   Q70E73-8   
Q70E73-9   

Explore the universe of human proteins at neXtProt for RAPH1: NX_Q70E73

Explore proteomics data for RAPH1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys483
  • Modification sites at PhosphoSitePlus

  • See RAPH1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_976241.1  NP_998754.1  

    ENSEMBL proteins: 
     ENSP00000392854   ENSP00000316543   ENSP00000363617   ENSP00000311293   ENSP00000411138  
     ENSP00000390578   ENSP00000397751   ENSP00000406662   ENSP00000396711   ENSP00000414430  
     ENSP00000412241   ENSP00000363613   ENSP00000363612  

    RAPH1 Human Recombinant Protein Products:

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    Novus Biologicals RAPH1 Lysate
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    Cloud-Clone Corp. Proteins for RAPH1

    RAPH1 Antibody Products:

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    RAPH1 Assay Products:

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    Cloud-Clone Corp. ELISAs for RAPH1
    Cloud-Clone Corp. CLIAs for RAPH1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing

    4 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000159 Ras-assoc
     IPR001904 Paxillin

    Graphical View of Domain Structure for InterPro Entry Q70E73

    ProtoNet protein and cluster: Q70E73

    1 Blocks protein domain: IPB001849 Pleckstrin-like

    UniProtKB/Swiss-Prot: RAPH1_HUMAN, Q70E73
    Similarity: Belongs to the MRL family
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-associating domain


    RAPH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAPH1_HUMAN, Q70E73
    Function: Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics.
    Negatively regulates cell adhesion
    Induction: Reduced expression in metastatic osteosarcomas compared to primary osteosarcoma tumors. Down-regulated
    in both breast (43% of tissue samples) and ovarian (25% of tissue samples) cancers

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    RAPH1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAPH1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAPH1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAPH1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RAPH1:
    hsa-mir-185-5p (MIRT045331), hsa-mir-186-5p (MIRT045080), hsa-mir-21-5p (MIRT030690), hsa-mir-324-5p (MIRT043034), hsa-mir-374b-5p (MIRT016068), hsa-mir-148b-3p (MIRT019271)

    Block miRNA regulation of human, mouse, rat RAPH1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAPH1 (see all 95):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d hsa-miR-374a hsa-miR-219-5p hsa-miR-877*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat RAPH1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for RAPH1 (see all 10)
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    GenScript: all cDNA clones in your preferred vector (see all 2): RAPH1 (NM_213589)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPH1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPH1


    (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
    RAPH1_HUMAN, Q70E73: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection,
    lamellipodium. Cell projection, filopodium. Cytoplasm, cytoskeleton. Note=Recruited to the membrane, via the PH
    domain, by the phosphoinositide, PI(3,4)P2. Colocalizes with ENAH/VASP at the tips of lamellipodia and filopodia.
    Also colocalizes with the pathogens, Vaccinia and Enteropathogenic E.coli (EPEC) at the interface between the
    pathogen and their actin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    nucleus3
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--
    GO:0030027lamellipodium IEA--
    GO:0030175filopodium IEA--

    RAPH1 for ontologies           About GeneDecksing


    (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 RAPH1
    Interactions:

        GeneGlobe Interaction Network for RAPH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for RAPH1 (Q70E733 ENSP000003165434) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNMBPQ6XZF73, ENSP000003156594I2D: score=1 STRING: ENSP00000315659
    ENAHQ8N8S73, ENSP000003558094I2D: score=1 STRING: ENSP00000355809
    VASPP505523, ENSP000002459324I2D: score=1 STRING: ENSP00000245932
    SOD1ENSP000002701424STRING: ENSP00000270142
    SH3KBP1ENSP000003809214STRING: ENSP00000380921
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion IEA--
    GO:0007165signal transduction IEA--
    GO:0048675axon extension IEA--

    RAPH1 for ontologies           About GeneDecksing



    (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 RAPH1

    1 Novoseek inferred chemical compound relationship for RAPH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 0 5 9499429 (3), 11210182 (2)



    RAPH1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAPH1 gene (3 alternative transcripts): 
    NM_025252.3  NM_203365.3  NM_213589.2  

    Unigene Cluster for RAPH1:

    Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
    Hs.471162  [show with all ESTs]
    Unigene Representative Sequence: NM_213589
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000457812 ENST00000319170(uc002vad.3) ENST00000374493 ENST00000308091(uc002vae.3)
    ENST00000439222 ENST00000419464 ENST00000423104 ENST00000453034(uc002vaf.3)
    ENST00000418114 ENST00000428637 ENST00000420371 ENST00000465669 ENST00000374489
    ENST00000374488
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate RAPH1 (see all 95):
    hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-199a-3p hsa-miR-106a hsa-miR-30d hsa-miR-374a hsa-miR-219-5p hsa-miR-877*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAPH1
    Clone
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    OriGene clones in human, mouse for RAPH1 (see all 10)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RAPH1 (NM_213589)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAPH1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAPH1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RAPH1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAPH1
      QuantiTect SYBR Green Assays in human, mouse, rat RAPH1
      QuantiFast Probe-based Assays in human, mouse, rat RAPH1

    Additional mRNA sequence: 

    AB051468.1 AB053311.1 AB053320.1 AF086189.1 AJ584699.1 AK022729.1 AK095976.1 AK096270.1 
    AY494951.1 AY523977.1 AY523978.1 

    10 DOTS entries:

    DT.423011  DT.91662876  DT.95159381  DT.451636  DT.92055135  DT.99977502  DT.109461  DT.95079003 
    DT.70105441  DT.97763976 

    Selected AceView cDNA sequences (see all 199):

    F09058 AW274550 BG222922 CB162970 NM_213589 AI377195 AK095976 CN482583 
    BM701630 AK096270 BF475299 AI133724 NM_203365 AI697843 AA987614 AI927518 
    AA370625 BF111090 BF445392 BX470737 NM_025252 AA228091 CK904997 AI217860 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RAPH1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18
    SP1:        -           -                                                                                         -               
    SP2:        -           -                                                                                                         
    SP3:        -           -                       -     -                                                           -     -         
    SP4:                    -                                                                                                         
    SP5:        -                                                                                                                     


    ECgene alternative splicing isoforms for RAPH1

    (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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    RAPH1 expression in normal human tissues (normalized intensities)      RAPH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAGGGAAG
    RAPH1 Expression
    About this image


    RAPH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Natural Killer Cells Peripheral Blood
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
     
     Liver (Hepatobiliary System)
    RAPH1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAPH1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471162

    UniProtKB/Swiss-Prot: RAPH1_HUMAN, Q70E73
    Tissue specificity: Isoform RMO1-RAPH1 is ubiquitously expressed with highest levels in brain, heart, ovary and
    developing embryo. Isoform RMO1 is widely expressed with highest levels in liver. Low expression in B-cells

        Custom PCR Arrays for RAPH1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAPH1

    (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 animals.

    Orthologs for RAPH1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Raph11 , 5 Ras association (RalGDS/AF-6) and pleckstrin homology more1, 5 87.8(n)1
    91.67(a)1
      1 (30.48 cM)5
    773001  NM_001045513.31  NP_001038978.31 
     604831915 
    chicken
    (Gallus gallus)
    Aves RAPH11 Ras association (RalGDS/AF-6) and pleckstrin homology more 77.07(n)
    83.83(a)
      424107  XM_421961.4  XP_421961.4 
    lizard
    (Anolis carolinensis)
    Reptilia RAPH16
    Ras association (RalGDS/AF-6) and pleckstrin homol...
    76(a)
    1 ↔ 1
    GL343208.1(3010015-3092689)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU910789.12   -- 73.9(n)    BU910789.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-1h24.31 si:dkey-1h24.3 66.63(n)
    71.18(a)
      560319  NM_001128244.1  NP_001121716.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pico6
    pico
    24(a)
    1 → many
    X(19724248-19746092)
    worm
    (Caenorhabditis elegans)
    Secernentea mig-106
    Protein MIG-10, isoform c
    29(a)
    1 → many
    III(8279108-8305832) WBGene00003243


    ENSEMBL Gene Tree for RAPH1 (if available)
    TreeFam Gene Tree for RAPH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAPH1 gene
    APBB1IP2  GRB72  GRB102  GRB142  
    3 SIMAP similar genes for RAPH1 using alignment to 5 protein entries:     RAPH1_HUMAN (see all proteins):
    GRB10    APBB1IP    GRB14

    RAPH1 for paralogs           About GeneDecksing



    (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 RAPH1 (see all 1934)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360094
    A breast cancer sample4--see VAR_0360092 A S mis40--------
    VAR_0360104
    A breast cancer sample4--see VAR_0360102 T A mis40--------
    rs1931267071,2
    --204298053(+) GGAGTC/GCAGTG 1 -- int10--------
    rs1511004691,2
    C--204298095(+) CCTGGC/GTTCAT 1 -- int10--------
    rs1857706341,2
    --204298217(+) CGGGAA/TGGTCT 1 -- int10--------
    rs1865401151,2
    --204298223(+) GGTCTC/TGATCT 1 -- int10--------
    rs1117372091,2
    C,F--204298277(+) GATTAC/TAGGCG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1502326081,2
    --204298279(+) TTACAA/GGCGTG 1 -- int10--------
    rs775639911,2
    C,F--204298297(+) GCACCC/TGGCTG 1 -- int11Minor allele frequency- T:0.05NA 120
    rs1913166571,2
    --204298389(+) CTACTC/TTTAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for RAPH1 (204259068 - 204400133 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RAPH1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv3116CNV Insertion18451855
    esv25574CNV Loss19812545
    nsv523737CNV Loss19592680
    nsv523309CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAPH1
    DNA2.0 Custom Variant and Variant Library Synthesis for RAPH1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609035    OMIM disorders: --

    13 diseases for RAPH1:    About MalaCards
    amyotrophic lateral sclerosis 2, juvenile    lateral sclerosis    amyotrophic lateral sclerosis    hypertriglyceridemia
    vaccinia    osteosarcoma    breast and colorectal cancer    tuberculosis
    cerebritis    ovarian cancer    colorectal cancer    endotheliitis
    breast cancer


    RAPH1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for RAPH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertriglyceridemia 43.9 2 11210182 (1), 9499429 (1)
    fatty liver 41.2 2 11210182 (1), 9499429 (1)

    Genetic Association Database (GAD): RAPH1
    Human Genome Epidemiology (HuGE) Navigator: RAPH1 (1 document)

    Export disorders for RAPH1 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 RAPH1 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with RAPH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Lamellipodin, an Ena/VASP ligand, is implicated in the regulation of lamellipodial dynamics. (PubMed id 15469845)1, 2, 9 Krause M.... Gertler F.B. (Dev. Cell 2004)
    2. Altered expression and deletion of RMO1 in osteosarcoma. (PubMed id 15609301)1, 2, 9 Eppert K....Andrulis I.L. (Int. J. Cancer 2005)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    4. Systematic identification and molecular characterization of genes differentially expressed in breast and ovarian cancer. (PubMed id 15586368)1, 2 Dahl E.... Niederacher D. (J. Pathol. 2005)
    5. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2 Hadano S....Ikeda J.-E. (Nat. Genet. 2001)
    6. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. c-Abl, Lamellipodin, and Ena/VASP proteins cooperate in dorsal ruffling of fibroblasts and axonal morphogenesis. (PubMed id 20417104)2, 9 Michael M.... Krause M. (Curr. Biol. 2010)
    8. Drosophila pico and its mammalian ortholog lamellipodin activate serum response factor and promote cell proliferation. (PubMed id 19000833)1, 9 Lyulcheva E....Bennett D. (Dev. Cell 2008)
    9. Lamellipodin proline rich peptides associated with native plasma butyrylcholinesterase tetramers. (PubMed id 18076380)1, 9 Li H....Lockridge O. (Biochem. J. 2008)
    10. Crystal structure of Lamellipodin implicates diverse functions in actin polymerization and Ras signaling. (PubMed id 23483482)1 Chang Y.C....Wu J. (amp 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65059 HGNC: 14436 AceView: RAPH1 Ensembl:ENSG00000173166 euGenes: HUgn65059
    ECgene: RAPH1 H-InvDB: RAPH1

    (According to HUGE)
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    HUGE: KIAA1681

    (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 RAPH1 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 RAPH1 gene:
    Search GeneIP for patents involving RAPH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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