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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RALGAPA1 Gene

protein-coding   GIFtS: 52
GCID: GC14M036008

Ral GTPase activating protein, alpha subunit 1 (catalytic)

(Previous names: GTPase activating RANGAP domain-like 1, GTPase activating...)
(Previous symbol: GARNL1)
 Explore 4 diseases affiliated with
RALGAPA1 via our new
 Human Malady Compendium 
Biological research products
for RALGAPA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ral GTPase Activating Protein, Alpha Subunit 1 (Catalytic)1 2     GAP-Related-Interacting Partner To E122 3
GARNL11 2 3 5     GTPase-Activating Rap/Ran-GAP Domain-Like 12 3
GRIPE1 2 3 5     P2401
KIAA08841 3 5     DKFZp667F0741
TULIP12 3 5     Tulip11
RalGAPalpha11 2     GAP-Related Interacting Protein To E122
GTPase Activating RANGAP Domain-Like 11 2     Ral GTPase-Activating Protein Alpha Subunit 12
GTPase Activating Rap/RanGAP Domain-Like 11 2     Ral GTPase-Activating Protein Subunit Alpha-12
Tuberin-Like Protein 12 3     

External Ids:    HGNC: 177701   Entrez Gene: 2539592   Ensembl: ENSG000001743737   OMIM: 6088845   UniProtKB: Q6GYQ03   

Export aliases for RALGAPA1 gene to outside databases

Previous GC identifers: GC14M035080 GC14M016121


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0
Function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like
small GTPases RALA and RALB (By similarity)

Gene Wiki entry for RALGAPA1 (GARNL1)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for RALGAPA1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRALGAPA1 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RALGAPA1


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

Entrez Gene cytogenetic band: 14q13.2   Ensembl cytogenetic band:  14q13.2   HGNC cytogenetic band: 14q13.2

RALGAPA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RALGAPA1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M036008:  view genomic region     (about GC identifiers)

Start:
36,007,558 bp from pter      End:
36,278,510 bp from pter
Size:
270,953 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0 (See protein sequence)
Recommended Name: Ral GTPase-activating protein subunit alpha-1  
Size: 2036 amino acids; 229832 Da
Subunit: Component of the heterodimeric RalGAP1 complex with RALGAPB. Heterodimerization is required for activity.
Interacts with the HLH region of TCF3/isoform E12 (By similarity)
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Translocated to the nucleus, when
associated with TCF3/E12 (By similarity)
Sequence caution: Sequence=BAC86772.1; Type=Erroneous initiation;
Secondary accessions: A6NMA4 C5NU19 O94960 Q6GYP9 Q6ZT23 Q86YF3 Q86YF5 Q8ND69
Alternative splicing: 6 isoforms:  Q6GYQ0-1   Q6GYQ0-2   Q6GYQ0-3   Q6GYQ0-4   Q6GYQ0-5   Q6GYQ0-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RALGAPA1: NX_Q6GYQ0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6GYQ0

  • RALGAPA1 Protein expression data from MOPED and PaxDb:    About this image 
    RALGAPA1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_055805.1  NP_919277.2  

    ENSEMBL proteins: 
     ENSP00000450574   ENSP00000374348   ENSP00000302647   ENSP00000451133   ENSP00000371803  
     ENSP00000451877   ENSP00000258840  

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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005739mitochondrion IDA--
    GO:0005829cytosol IBA--

    RALGAPA1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RALGAPA1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR027107 Tuberin/Ral-act_asu
     IPR000331 Rap_GAP_dom

    Graphical View of Domain Structure for InterPro Entry Q6GYQ0

    ProtoNet protein and cluster: Q6GYQ0

    1 Blocks protein family: IPB000331 Rap/ran-GAP

    UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0
    Similarity: Contains 1 Rap-GAP domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RGPA1_HUMAN, Q6GYQ0
    Function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like
    small GTPases RALA and RALB (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity IBA--
    GO:0017123Ral GTPase activator activity ISS--
    GO:0046982protein heterodimerization activity IPI19520869
         
    RALGAPA1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RALGAPA1:
     Increased HPV18 LCR reporter a 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway1.00


    1 BioSystems Pathway for RALGAPA1 
        Integrated Breast Cancer Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RALGAPA1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for RALGAPA1 (Q6GYQ03 ENSP000003026474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    TCF3P159233, ENSP000002629654I2D: score=3 STRING: ENSP00000262965
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    ITSN2Q9NZM33I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0032859activation of Ral GTPase activity ISS--
    GO:0043547positive regulation of GTPase activity IBA--
    GO:0051056regulation of small GTPase mediated signal transduction ----

    RALGAPA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RALGAPA1 gene (2 alternative transcripts): 
    NM_014990.1  NM_194301.2  

    Unigene Cluster for RALGAPA1:

    Ral GTPase activating protein, alpha subunit 1 (catalytic)
    Hs.113150  [show with all ESTs]
    Unigene Representative Sequence: AY596970
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000554573 ENST00000389698(uc010amp.3 uc001wti.3 uc010tpv.2)
    ENST00000307138(uc001wtj.3) ENST00000554259 ENST00000556106 ENST00000382366
    ENST00000553892 ENST00000554355 ENST00000556837 ENST00000554652(uc001wtk.1)
    ENST00000557638 ENST00000556839 ENST00000553917 ENST00000554704 ENST00000557069
    ENST00000557104 ENST00000555828 ENST00000556192

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    Additional cDNA sequence: 

    AB020691.1 AB511280.1 AF085938.1 AK022988.1 AK126975.1 AL050050.1 AL834362.1 AY596970.1 
    AY596971.1 BC016305.1 BC042013.1 BC042045.1 BC150596.1 DQ786317.1 

    23 DOTS entries:

    DT.100816161  DT.97782725  DT.445190  DT.95169518  DT.91895210  DT.100032428  DT.86837497  DT.120754087 
    DT.40257201  DT.95183135  DT.120754088  DT.121145677  DT.40108199  DT.438144  DT.86854919  DT.91667406 
    DT.91668571  DT.92429790  DT.120754073  DT.75101073  DT.95278378  DT.95363637  DT.97857780 

    24/145 AceView cDNA sequences (see all 145):

    BQ772194 BM670224 F09823 AY596971 NM_194301 NM_014990 AI052024 AW969055 
    NM_015639 BI792920 AI474677 CK821147 BX486305 AW275799 Z39869 AL834362 
    AA938311 BC042045 BU172885 CK821146 AW293383 AY596970 AA323190 AA939262 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RALGAPA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTATTTAATA
    RALGAPA1 Expression
    About this image
    See RALGAPA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RALGAPA1

    SOURCE GeneReport for Unigene cluster: Hs.113150

    UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0
    Tissue specificity: Widely expressed

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RALGAPA1 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RALGAPA11 Ral GTPase activating protein, alpha subunit 1 (catalytic) 82.66(n)
    89.76(a)
      423327  XM_421244.2  XP_421244.2 
    lizard
    (Anolis carolinensis)
    Reptilia RALGAPA16
    RALGAPA16
    --
    89(a)
    86(a)
    1 ↔ many
    1 ↔ many
    AAWZ02034921(4101-24070)
    1(24125900-24172255)
    zebrafish
    (Danio rerio)
    Actinopterygii BM890464.12   -- 75.86(n)    BM890464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55211 CG5521 47.91(n)
    40.8(a)
      43242  NM_001170277.1  NP_001163748.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y18H1A.36
    Protein Y18H1A.3
    22(a)
    1 → many
    I(700277-715853)


    ENSEMBL Gene Tree for RALGAPA1 (if available)
    TreeFam Gene Tree for RALGAPA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RALGAPA1 gene
    RALGAPA22  RALGAPB2  TSC22  
    3 SIMAP similar genes for RALGAPA1 using alignment to 4 protein entries:     RGPA1_HUMAN (see all proteins):
    GARNL2P    GARNL1    RALGAPA2

    RALGAPA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RALGAPA1
    PGOHUM00000260533


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3785 NCBI SNPs in RALGAPA1 are shown (see all 3785    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007578561,2
    --36007123(+) ACAAA-/ACAAAAT 2 -- int10--------
    rs1380079831,2
    --36007259(+) GACTCC/TGTCTC 2 -- int10--------
    rs1841324521,2
    --36007551(+) AATCAA/GCACTC 2 -- int10--------
    rs557337011,2
    C--36007624(+) CCACTA/GTTACA 2 -- ut310--------
    rs1410378441,2
    --36007645(+) ACTACA/GTGAAT 2 -- ut310--------
    rs1886449191,2
    C--36007675(+) TTTACA/GGTTTG 2 -- ut310--------
    rs1432875901,2
    --36007704(+) ACATGC/TAGTTA 2 -- ut310--------
    rs1931658491,2
    --36008424(+) CAATTG/TTATTT 2 -- ut310--------
    rs1832456771,2
    --36008703(+) TGTTCA/GTGCTA 2 -- ut310--------
    rs2019779321,2
    C--36008776(+) AGGAAC/TGACGC 3 H R ut31 mis11Minor allele frequency- T:0.00EU 1299

    HapMap Linkage Disequilibrium report for RALGAPA1 (36007558 - 36257558 bp, first 250kb of RALGAPA1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RALGAPA1
         1 CNV: 101924
    Human Gene Mutation Database (HGMD): RALGAPA1

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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.)
    About This Section

    RALGAPA1 for disorders           About GeneDecksing

    OMIM gene information: 608884    OMIM disorders: --

    4 diseases for RALGAPA1:    About MalaCards
    metastasis efficiency    newcastle disease    tuberous sclerosis    coloboma

    1 disease from the University of Copenhagen DISEASES database for RALGAPA1:
    Newcastle disease
    Human Genome Epidemiology (HuGE) Navigator: RALGAPA1 (1 document)

    Export disorders for RALGAPA1 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)
    About This Section

    PubMed articles for RALGAPA1 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with RALGAPA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. (PubMed id 19520869)1, 2, 3 Shirakawa R.... Horiuchi H. (2009)
    2. Cloning, genomic structure and expression profile of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homolog. (PubMed id 15498464)1, 2, 9 Schwarzbraun T.... Petek E. (2004)
    3. 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. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)

    (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)
    About This Section
    Entrez Gene: 253959 HGNC: 17770 AceView: GARNL1 Ensembl:ENSG00000174373 euGenes: HUgn253959
    ECgene: RALGAPA1 H-InvDB: RALGAPA1

    (According to HUGE)
    About This Section
    HUGE: KIAA0884

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RALGAPA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RALGAPA1 gene:
    Search GeneIP for patents involving RALGAPA1

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



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