Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



GAPVD1 Gene

protein-coding   GIFtS: 53
GCID: GC09P128024

GTPase Activating Protein And VPS9 Domains 1

Pneumococci & Pneumococcal Diseases Congress
  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)
About This Section

TryGeneCards Plus

Aliases
GTPase Activating Protein And VPS9 Domains 11 2     GAPex-52 3
GAPEX52 3 5     KIAA15213 5
RAP62 3 5     GTPase-Activating Protein And VPS9 Domain-Containing Protein 12
Rab5-Activating Protein 62 3     

External Ids:    HGNC: 233751   Entrez Gene: 261302   Ensembl: ENSG000001652197   OMIM: 6117145   UniProtKB: Q14C863   

Export aliases for GAPVD1 gene to outside databases

Previous GC identifers: GC09P125104 GC09P127063 GC09P097636


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

TryGeneCards Plus

GeneCards Summary for GAPVD1 Gene:
GAPVD1 (GTPase activating protein and VPS9 domains 1) is a protein-coding gene. Diseases associated with GAPVD1 include pancreatic cancer, and pancreatitis. GO annotations related to this gene include GTPase activator activity and GTPase activating protein binding. An important paralog of this gene is RABGEF1.

UniProtKB/Swiss-Prot: GAPD1_HUMAN, Q14C86
Function: Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and
participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4
trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to
regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a
futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells.
Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular
storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination
and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras

Gene Wiki entry for GAPVD1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAPVD1 gene promoter:
         CREB   AP-1   ATF-2   Olf-1   STAT5A   Nkx2-5   MRF-2   Egr-4   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAPVD1 promoter sequence
   Search Chromatin IP Primers for GAPVD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAPVD1


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

Entrez Gene cytogenetic band: 9q33.3   Ensembl cytogenetic band:  9q33.3   HGNC cytogenetic band: 9q34.11

GAPVD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAPVD1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P128024:  view genomic region     (about GC identifiers)

Start:
128,024,073 bp from pter      End:
128,129,486 bp from pter
Size:
105,414 bases      Orientation:
plus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: GAPD1_HUMAN, Q14C86 (See protein sequence)
Recommended Name: GTPase-activating protein and VPS9 domain-containing protein 1  
Size: 1478 amino acids; 164980 Da
Subunit: Interacts with TRIP10/CIP4 (By similarity). Interacts with RAB5A
Sequence caution: Sequence=AAH21119.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH21119.1; Type=Frameshift; Positions=742; Sequence=BAA90959.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAA90959.1; Type=Miscellaneous discrepancy; Note=Contaminating
sequence. Potential poly-A sequence; Sequence=BAA96045.3; Type=Erroneous initiation;
Secondary accessions: A8MYK3 B0QZ62 B0QZ63 B0QZ64 Q14C76 Q2Q1W1 Q8ND92 Q8WU86 Q96CZ4 Q9NXQ1
Q9P207 Q9Y4N0
Alternative splicing: 6 isoforms:  Q14C86-1   Q14C86-2   Q14C86-3   Q14C86-4   Q14C86-5   Q14C86-6   

Explore the universe of human proteins at neXtProt for GAPVD1: NX_Q14C86

Explore proteomics data for GAPVD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys24, Lys49, Lys1327
  • Modification sites at PhosphoSitePlus

  • See GAPVD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001269608.1  NP_001269609.1  NP_001269610.1  

    ENSEMBL proteins: 
     ENSP00000419799   ENSP00000418969   ENSP00000377646   ENSP00000377665   ENSP00000419767  
     ENSP00000377645   ENSP00000419063   ENSP00000418747   ENSP00000297933   ENSP00000309582  
     ENSP00000413082   ENSP00000391251   ENSP00000377664   ENSP00000265956  

    GAPVD1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GAPVD1
    GenScript Custom Purified and Recombinant Proteins Services for GAPVD1
    Novus Biologicals GAPVD1 Protein
    Novus Biologicals GAPVD1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GAPVD1

    GAPVD1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for GAPVD1
    Novus Biologicals GAPVD1 Antibodies
    Abcam antibodies for GAPVD1
    Cloud-Clone Corp. Antibodies for GAPVD1
    Search ThermoFisher Antibodies for GAPVD1
    LSBio Antibodies in human, mouse, rat for GAPVD1

    GAPVD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GAPVD1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GAPVD1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GAPVD1
    Cloud-Clone Corp. CLIAs for GAPVD1


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

    TryGeneCards Plus
    4 InterPro protein domains:
     IPR001936 RasGAP
     IPR013995 VPS9_subgr
     IPR003123 VPS9
     IPR008936 Rho_GTPase_activation_prot

    Graphical View of Domain Structure for InterPro Entry Q14C86

    ProtoNet protein and cluster: Q14C86

    1 Blocks protein domain: IPB001936 Ras GTPase-activating protein

    UniProtKB/Swiss-Prot: GAPD1_HUMAN, Q14C86
    Similarity: Belongs to the GAPVD1 family
    Similarity: Contains 1 Ras-GAP domain
    Similarity: Contains 1 VPS9 domain


    GAPVD1 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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GAPD1_HUMAN, Q14C86
    Function: Acts both as a GTPase-activating protein (GAP) and a guanine nucleotide exchange factor (GEF), and
    participates in various processes such as endocytosis, insulin receptor internalization or LC2A4/GLUT4
    trafficking. Acts as a GEF for the Ras-related protein RAB31 by exchanging bound GDP for free GTP, leading to
    regulate LC2A4/GLUT4 trafficking. In the absence of insulin, it maintains RAB31 in an active state and promotes a
    futile cycle between LC2A4/GLUT4 storage vesicles and early endosomes, retaining LC2A4/GLUT4 inside the cells.
    Upon insulin stimulation, it is translocated to the plasma membrane, releasing LC2A4/GLUT4 from intracellular
    storage vesicles. Also involved in EGFR trafficking and degradation, possibly by promoting EGFR ubiquitination
    and subsequent degradation by the proteasome. Has GEF activity for Rab5 and GAP activity for Ras

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085guanyl-nucleotide exchange factor activity IMP16410077
    GO:0005096GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0032794GTPase activating protein binding IMP16410077
         
    GAPVD1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GAPVD1:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAPVD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GAPVD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAPVD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAPVD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target GAPVD1:
    hsa-mir-98-5p (MIRT027460), hsa-mir-155-5p (MIRT020580), hsa-mir-30c-5p (MIRT047978), hsa-mir-21-5p (MIRT030754), hsa-let-7b-5p (MIRT032293), hsa-mir-34a-5p (MIRT025363)

    Block miRNA regulation of human, mouse, rat GAPVD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GAPVD1 (see all 60):
    hsa-miR-99b* hsa-miR-628-3p hsa-miR-218 hsa-miR-3923 hsa-miR-124 hsa-miR-1276 hsa-miR-654-5p hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidGAPVD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GAPVD1
    Predesigned siRNA for gene silencing in human, mouse, rat GAPVD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GAPVD1

    Clone
    Products:
         
    OriGene clones in human, mouse for GAPVD1 (see all 9)
    OriGene ORF clones in mouse, rat for GAPVD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GAPVD1 (NM_015635)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAPVD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAPVD1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GAPVD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for GAPVD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAPVD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    GAPD1_HUMAN, Q14C86: Membrane; Peripheral membrane protein. Endosome. Note=Recruited to the plasma membrane by
    TRIP10/CIP4 in response to insulin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    plasma membrane3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005768endosome IEA--
    GO:0005829cytosol IDA16410077
    GO:0016020membrane IEA--

    GAPVD1 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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GAPVD1
    Interactions:

        Search GeneGlobe Interaction Network for GAPVD1

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

    Selected Interacting proteins for GAPVD1 (Q14C863 ENSP000003776654) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AP2A2O949733, ENSP000004132344I2D: score=1 STRING: ENSP00000413234
    VAV2P527353, ENSP000003609164I2D: score=1 STRING: ENSP00000360916
    CBLP226813, ENSP000002640334I2D: score=1 STRING: ENSP00000264033
    YWHABP319463, ENSP000003001614I2D: score=4 STRING: ENSP00000300161
    YWHAZP631043, ENSP000003095034I2D: score=1 STRING: ENSP00000309503
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0007165signal transduction IEA--
    GO:0043087regulation of GTPase activity IMP16410077
    GO:0051056regulation of small GTPase mediated signal transduction IEA--
    GO:0051223regulation of protein transport IMP16410077

    GAPVD1 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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GAPVD1 (GAPD1)

    3 HMDB Compounds for GAPVD1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    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,
    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for GAPVD1 gene (4 alternative transcripts): 
    NM_015635.2  NM_001282679.1  NM_001282680.1  NM_001282681.1  

    Unigene Cluster for GAPVD1:

    GTPase activating protein and VPS9 domains 1
    Hs.495134  [show with all ESTs]
    Unigene Representative Sequence: NM_015635
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000497580 ENST00000461379 ENST00000394084(uc004bpo.3) ENST00000469528
    ENST00000394105 ENST00000470056(uc004bps.3 uc004bpt.3) ENST00000394083
    ENST00000495955(uc011lzs.1) ENST00000467750 ENST00000297933 ENST00000495588
    ENST00000312123 ENST00000431329 ENST00000436712 ENST00000479511 ENST00000469498
    ENST00000474637 ENST00000467707

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GAPVD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GAPVD1 (see all 60):
    hsa-miR-99b* hsa-miR-628-3p hsa-miR-218 hsa-miR-3923 hsa-miR-124 hsa-miR-1276 hsa-miR-654-5p hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidGAPVD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GAPVD1
    Predesigned siRNA for gene silencing in human, mouse, rat GAPVD1
    Clone
    Products:
         
    OriGene clones in human, mouse for GAPVD1 (see all 9)
    OriGene ORF clones in mouse, rat for GAPVD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GAPVD1 (NM_015635)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAPVD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAPVD1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for GAPVD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAPVD1
      QuantiTect SYBR Green Assays in human, mouse, rat GAPVD1
      QuantiFast Probe-based Assays in human, mouse, rat GAPVD1

    Additional mRNA sequence: 

    AB040954.3 AK000126.1 AK021533.1 AK023841.1 AK027049.1 AK056493.1 AK096224.1 AK294542.1 
    AK296381.1 AL080196.1 AL834325.1 BC010027.2 BC013635.1 BC021119.1 BC110990.1 BC114937.1 
    BC114962.1 DQ233254.1 

    19 DOTS entries:

    DT.100777377  DT.95168704  DT.101971076  DT.95301951  DT.100777374  DT.100777379  DT.95168700  DT.100027341 
    DT.91692282  DT.91881479  DT.437604  DT.100743918  DT.95288412  DT.100741964  DT.40313733  DT.87009219 
    DT.91717849  DT.95237535  DT.97862889 

    Selected AceView cDNA sequences (see all 222):

    AA176465 BM477592 AA324801 AW673526 AL044368 BC013635 AL045642 AA452166 
    CB960869 AB040954 CA393305 AW408653 BQ431554 AA351261 CN484915 AW136518 
    N33140 AI277334 AW674729 BU500631 AA778208 CF130106 NM_015635 CB242462 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GAPVD1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                                                                      -                       -     -     -                                 
    SP2:                                                                                      -                                   -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                      -     -                                                               
    SP5:                                                                                                                                                            

    ExUns: 21a · 21b · 21c · 21d ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25a · 25b
    SP1:  -                                         -                     
    SP2:  -                                         -                     
    SP3:                                                                  
    SP4:                                                                  
    SP5:  -                                         -                     


    ECgene alternative splicing isoforms for GAPVD1

    (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)
    About This Section

    TryGeneCards Plus

    GAPVD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAACACTGT
    GAPVD1 Expression
    About this image


    GAPVD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    GAPVD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAPVD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.495134
        Custom PCR Arrays for GAPVD1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for GAPVD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAPVD1
    QuantiTect SYBR Green Assays in human, mouse, rat GAPVD1
    QuantiFast Probe-based Assays in human, mouse, rat GAPVD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAPVD1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GAPVD1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gapvd11 , 5 GTPase activating protein and VPS9 domains 11, 5 90.49(n)1
    97.91(a)1
      2 (22.87 cM)5
    666911  NM_025709.21  NP_079985.21 
     346761845 
    chicken
    (Gallus gallus)
    Aves GAPVD11 GTPase activating protein and VPS9 domains 1 82.56(n)
    93.77(a)
      417095  XM_415380.4  XP_415380.3 
    lizard
    (Anolis carolinensis)
    Reptilia GAPVD16
    GTPase activating protein and VPS9 domains 1
    85(a)
    1 ↔ 1
    GL344648.1(21-23725)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.92602 Xenopus laevis transcribed sequence with weak similarity more 79.75(n)    BX842865.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gapvd11 GTPase activating protein and VPS9 domains 1 71.3(n)
    80.46(a)
      436693  NM_001002420.2  NP_001002420.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG16576
    --
    23(a)
    1 ↔ 1
    X(11219495-11228107)
    worm
    (Caenorhabditis elegans)
    Secernentea rme-66
    Protein RME-6, isoform a (rme-6) mRNA, complete cd...
    23(a)
    1 ↔ 1
    X(1097152-1103320) WBGene00004377
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS96
    A guanine nucleotide exchange factor involved in v...
    16(a)
    1 → many
    XIII(78335-79690) YML097C


    ENSEMBL Gene Tree for GAPVD1 (if available)
    TreeFam Gene Tree for GAPVD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for GAPVD1 gene
    RABGEF12  KCTD72  

    GAPVD1 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for GAPVD1 (see all 2127)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926703111,2
    --128022172(+) TCTACC/TGTGTT 1 -- us2k10--------
    rs612949681,2
    F--128022193(+) GTCTCG/AATCTC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs764168901,2
    C--128022232(+) TCCCAA/GAGTGC 1 -- us2k10--------
    rs1884956941,2
    --128022418(+) AGTCAC/TAAAAC 1 -- us2k10--------
    rs1931684231,2
    --128022453(+) TGTCAA/GTGTTG 1 -- us2k10--------
    rs1846283991,2
    --128022542(+) AGCCTG/TGACCT 1 -- us2k10--------
    rs1898459701,2
    --128022666(+) TTGCTC/GAGGCT 1 -- us2k10--------
    rs1806932191,2
    --128022713(+) TTGGCC/TTCGCA 1 -- us2k10--------
    rs1403373621,2
    C--128022732(+) GGATT-/ATAGGC
            
    ATATG
    1 -- us2k10--------
    rs1510926091,2
    --128022774(+) AGAGAA/GGTGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GAPVD1 (128024073 - 128129486 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GAPVD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739042CNV Deletion23290073
    esv1528230CNV Insertion17803354
    esv2599223CNV Insertion19546169
    nsv831722CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAPVD1
    DNA2.0 Custom Variant and Variant Library Synthesis for GAPVD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 611714    OMIM disorders: --

    3 diseases for GAPVD1:    
    About MalaCards
    pancreatic cancer    pancreatitis    hiv-1


    GAPVD1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): GAPVD1
    Human Genome Epidemiology (HuGE) Navigator: GAPVD1 (1 document)

    Export disorders for GAPVD1 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

    TryGeneCards Plus

    PubMed articles for GAPVD1 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with GAPVD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis. (PubMed id 16410077)1, 2, 9 Hunker C.M....Barbieri M.A. (Biochem. Biophys. Res. Commun. 2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    4. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. A cohesin-RAD21 interactome. (PubMed id 22145905)1 Panigrahi A.K....Pati D. (Biochem. J. 2012)
    8. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    9. Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C.... Cristea I.M. (Mol. Cell. Proteomics 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 26130 HGNC: 23375 AceView: DKFZP434C212 Ensembl:ENSG00000165219 euGenes: HUgn26130
    ECgene: GAPVD1 H-InvDB: GAPVD1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA1521

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for GAPVD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for GAPVD1 gene:
    Search GeneIP for patents involving GAPVD1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for GAPVD1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for GAPVD1  
     OriGene qSTAR qPCR primer pairs in human, mouse for GAPVD1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for GAPVD1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GAPVD1   OriGene Custom Protein Services for GAPVD1  

     
     
     Block miRNA regulation of human, mouse, rat GAPVD1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing GAPVD1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAPVD1 Predesigned siRNA for gene silencing in human, mouse, rat GAPVD1
     QuantiFast Probe-based Assays in human, mouse, rat GAPVD1 QuantiTect SYBR Green Assays in human, mouse, rat GAPVD1
     Custom PCR Arrays for GAPVD1 Search Chromatin IP Primers for GAPVD1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAPVD1  Search GeneGlobe Interaction Network for GAPVD1
     Regulatory tfbs in GAPVD1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for GAPVD1 GenScript cDNA clones with any tag delivered in your preferred vector for GAPVD1
     GenScript Custom Assay Services for GAPVD1 GenScript Custom overexpressing Cell Line Services for GAPVD1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for GAPVD1 (GAPD1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     GAPVD1 antibodies
     GAPVD1 proteins
     GAPVD1 lysates
     Antibodies for GAPVD1
     See all of Abcam's Antibodies, Kits and Proteins for GAPVD1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for GAPVD1
     Antibodies for GAPVD1
     ELISAs for GAPVD1
     CLIAs for GAPVD1



     Browse ESI BIO Cell Lines and PureStem Progenitors for GAPVD1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAPVD1
     SwitchGear 3'UTR luciferase reporter plasmids for GAPVD1
     SwitchGear Promoter luciferase reporter plasmids for GAPVD1
     Search ThermoFisher Antibodies for GAPVD1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAPVD1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAPVD1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GAPVD1
     LSBio Antibodies in human, mouse, rat for GAPVD1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      GAPVD1 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4