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GIT1 Gene

protein-coding   GIFtS: 60
GCID: GC17M027900

G Protein-Coupled Receptor Kinase Interacting ArfGAP 1

(Previous name: G protein-coupled receptor kinase interactor 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
G Protein-Coupled Receptor Kinase Interacting ArfGAP 11 2     ARF GAP GIT12 3
G Protein-Coupled Receptor Kinase Interactor 11 2     G Protein-Coupled Receptor Kinase-Interactor 12 3
Cool-Associated And Tyrosine-Phosphorylated Protein 12 3     GRK-Interacting Protein 12 3
CAT-12 3     ARF GTPase-Activating Protein GIT12
CAT12 3     

External Ids:    HGNC: 42721   Entrez Gene: 289642   Ensembl: ENSG000001082627   OMIM: 6084345   UniProtKB: Q9Y2X73   

Export aliases for GIT1 gene to outside databases

Previous GC identifers: GC17M027560 GC17M029800 GC17M027752 GC17M028046 GC17M024924 GC17M024109


(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 GIT1 Gene:
GIT1 (G protein-coupled receptor kinase interacting ArfGAP 1) is a protein-coding gene. GO annotations related to this gene include ARF GTPase activator activity. An important paralog of this gene is GIT2.

UniProtKB/Swiss-Prot: GIT1_HUMAN, Q9Y2X7
Function: GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring
together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal
organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions,
possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive
non-tyrosine-phosphorylated paxillin in cytoplasmic complexes

Gene Wiki entry for GIT1 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 at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GIT1 gene promoter:
         Spz1   AP-1   HTF   ATF-2   c-Ets-1   HEN1   PPAR-gamma1   Nkx6-1   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGIT1 promoter sequence
   Search Chromatin IP Primers for GIT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GIT1


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17p11.2

GIT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GIT1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M027900:  view genomic region     (about GC identifiers)

Start:
27,900,487 bp from pter      End:
27,921,072 bp from pter
Size:
20,586 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: GIT1_HUMAN, Q9Y2X7 (See protein sequence)
Recommended Name: ARF GTPase-activating protein GIT1  
Size: 761 amino acids; 84341 Da
Subunit: Interacts with G protein-coupled receptor kinases: ADRBK1/GRK2, PPFIA1 and PPFIA4. Interacts with
ARHGEF6/alpha-PIX, with ARHGEF7/beta-PIX, with PXN/paxillin and with PTK2/FAK1 (By similarity). Component of
cytoplasmic complexes, which also contain PXN, ARHGEF6 and PAK1. Interacts with TGFB1I1. Interacts with SCRIB
Sequence caution: Sequence=AAH48196.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B4DGU9 B4DSV3 Q86SS0 Q9BRJ4
Alternative splicing: 3 isoforms:  Q9Y2X7-1   Q9Y2X7-2   Q9Y2X7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GIT1: NX_Q9Y2X7

Explore proteomics data for GIT1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues by PTK2/FAK1 and SRC in growing fibroblasts. Tyrosine-phosphorylation is
    increased following cell spreading on fibronectin, decreased in cells arrested in mitosis and increased in the
    ensuing G1 phase (By similarity)1
  • Ubiquitination2 at Lys49
  • Modification sites at PhosphoSitePlus

  • See GIT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001078923.1  NP_054749.2  

    ENSEMBL proteins: 
     ENSP00000225394   ENSP00000378338   ENSP00000462775   ENSP00000464388   ENSP00000463746  
     ENSP00000463435   ENSP00000463543   ENSP00000466824   ENSP00000334125   ENSP00000464933  

    GIT1 Human Recombinant Protein Products:

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    Novus Biologicals GIT1 Lysate
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    Cloud-Clone Corp. Proteins for GIT1

     
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    antibodies-online peptides for GIT1

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    antibodies-online antibodies for GIT1 (93 products) 

    GIT1 Assay Products:

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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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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    5 InterPro protein domains:
     IPR022018 GIT1_C
     IPR013724 GIT_SHD
     IPR001164 ArfGAP
     IPR002110 Ankyrin_rpt
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y2X7

    ProtoNet protein and cluster: Q9Y2X7

    3 Blocks protein domains:
    IPB001164 HIV Rev interacting protein signature
    IPB002110 Ankyrin repeat signature
    IPB013724 Spa2 homology (SHD) of GIT


    UniProtKB/Swiss-Prot: GIT1_HUMAN, Q9Y2X7
    Domain: The paxillin-binding domain is masked in the full-length protein and is regulated by ARHGEF6 (By
    similarity)
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 Arf-GAP domain


    Find genes that share domains with GIT1           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: GIT1_HUMAN, Q9Y2X7
    Function: GTPase-activating protein for the ADP ribosylation factor family. May serve as a scaffold to bring
    together molecules to form signaling modules controlling vesicle trafficking, adhesion and cytoskeletal
    organization. Increases the speed of cell migration, as well as the size and rate of formation of protrusions,
    possibly by targeting PAK1 to adhesions and the leading edge of lamellipodia. Sequesters inactive
    non-tyrosine-phosphorylated paxillin in cytoplasmic complexes

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15182672
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with GIT1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for GIT1:
     Decreased focal adhesion (FA)  

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Git1):
     behavior/neurological  cardiovascular system  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  normal  respiratory system 

    Find genes that share phenotypes with GIT1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GIT1: Git1tm1Bcb Git1tm1.2Rtp

       genOway: Develop your customized and physiologically relevant rodent model for GIT1

    miRNA
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    miRTarBase miRNAs that target GIT1:
    hsa-mir-7-5p (MIRT025756), hsa-mir-484 (MIRT042200)

    Block miRNA regulation of human, mouse, rat GIT1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GIT1 (see all 54):
    hsa-miR-140-5p hsa-miR-3194-5p hsa-miR-376b hsa-miR-15a hsa-miR-1224-3p hsa-miR-766 hsa-miR-764 hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidGIT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GIT1
    Predesigned siRNA for gene silencing in human, mouse, rat GIT1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): GIT1 (NM_014030)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GIT1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat GIT1
    Addgene plasmids for GIT1 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GIT1


    (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
    GIT1_HUMAN, Q9Y2X7: Cytoplasm. Note=Cycles between at least 3 distinct intracellular compartments, including
    focal adhesions, cytoplasmic complexes and membrane protrusions. During cell migration, when cells detach, moves
    from the adhesions into the cytoplasmic complexes towards the leading edge, while, when cells adhere, it is found
    in vinculin-containing adhesions. Recruitment to adhesions may be mediated by active tyrosine-phosphorylated
    paxillin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    mitochondrion2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005925focal adhesion IDA--
    GO:0016235aggresome IDA--

    Find genes that share ontologies with GIT1           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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    SuperPaths for GIT1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of actin cytoskeleton
    Regulation of actin cytoskeleton0.57
    Regulation of Actin Cytoskeleton0.57
    2Paxillin-dependent events mediated by a4b1
    Paxillin-dependent events mediated by a4b10.58
    Paxillin-independent events mediated by a4b1 and a4b70.58
    3Insulin receptor recycling
    Epithelial cell signaling in Helicobacter pylori infection0.32
    4Stabilization and expansion of the E-cadherin adherens junction
    Stabilization and expansion of the E-cadherin adherens junction
    5Regulation of CDC42 activity
    Regulation of CDC42 activity


    Find genes that share SuperPaths with GIT1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for GIT1
        Neuroscience
    Adhesion

    Selected BioSystems Pathways for GIT1 (see all 8)
        EGFR1 Signaling Pathway
    Regulation of Actin Cytoskeleton
    Aurora A signaling
    Paxillin-independent events mediated by a4b1 and a4b7
    Stabilization and expansion of the E-cadherin adherens junction


    3 Kegg Pathways  (Kegg details for GIT1):
        Endocytosis
    Regulation of actin cytoskeleton
    Epithelial cell signaling in Helicobacter pylori infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GIT1
    Interactions:

        GeneGlobe Interaction Network for GIT1

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

    Selected Interacting proteins for GIT1 (Q9Y2X71, 2, 3 ENSP000003783384) via UniProtKB, MINT, STRING, and/or I2D (see all 115)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428581, 2, 3, ENSP000003471844EBI-466061,EBI-466029 MINT-3375526 MINT-3375598 MINT-3375386 MINT-3978248 MINT-3978048 MINT-3981338 MINT-3375694 MINT-3375713 I2D: score=5 STRING: ENSP00000347184
    ARHGEF7Q141551, 2, 3, ENSP000003648934EBI-466061,EBI-717515 MINT-7147308 MINT-1953491 MINT-7147263 I2D: score=6 STRING: ENSP00000364893
    KIAA1377Q9P2H01, 2, 3, ENSP000002634684EBI-466061,EBI-473176 MINT-3981498 MINT-3981152 I2D: score=3 STRING: ENSP00000263468
    PAK1Q131531, 2, 3, ENSP000002785684EBI-466061,EBI-1307 MINT-1953519 I2D: score=2 STRING: ENSP00000278568
    C8orf33Q9H7E92, 3MINT-65509 MINT-8250418 I2D: score=5 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway TAS9826657
    GO:0032312regulation of ARF GTPase activity IEA--

    Find genes that share ontologies with GIT1           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 GIT1

    5 Novoseek inferred chemical compound relationships for GIT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 43.3 20 18211801 (3), 14523024 (2), 15923189 (1), 17467235 (1) (see all 9)
    gtp 31.3 4 10938112 (1), 10788515 (1), 16439353 (1)
    gdp 24.6 1 16439353 (1)
    adp 16.7 3 9826657 (2), 10655494 (1)
    calcium 3.04 6 14523024 (1), 19022416 (1), 16439353 (1)



    Find genes that share compounds with GIT1           About GenesLikeMe



    (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 GIT1 gene (2 alternative transcripts): 
    NM_001085454.1  NM_014030.3  

    Unigene Cluster for GIT1:

    G protein-coupled receptor kinase interacting ArfGAP 1
    Hs.514051  [show with all ESTs]
    Unigene Representative Sequence: NM_001085454
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225394(uc002heg.2 uc002hef.2 uc010wbg.1) ENST00000473217
    ENST00000394869 ENST00000581348 ENST00000579937 ENST00000578670 ENST00000578266
    ENST00000491377 ENST00000585148 ENST00000586574 ENST00000581925 ENST00000579536
    ENST00000583413 ENST00000335356 ENST00000577466
    miRNA
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    hsa-miR-140-5p hsa-miR-3194-5p hsa-miR-376b hsa-miR-15a hsa-miR-1224-3p hsa-miR-766 hsa-miR-764 hsa-miR-4267
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      QuantiFast Probe-based Assays in human, mouse, rat GIT1

    Additional mRNA sequence: 

    AB209537.1 AF124490.1 AK000863.1 AK024826.1 AK294785.1 AK297443.1 AK299615.1 AK299932.1 
    BC001369.2 BC005031.1 BC006227.2 BC018998.2 BC032098.1 BX537553.1 BX537554.1 BX648097.1 

    15 DOTS entries:

    DT.217376  DT.101982565  DT.92463995  DT.91835128  DT.121006195  DT.100793054  DT.100793052  DT.95254490 
    DT.95329217  DT.121006197  DT.92385697  DT.92463974  DT.95329214  DT.95329216  DT.40107354 

    Selected AceView cDNA sequences (see all 315):

    BQ721863 NM_014030 BQ053819 AJ705671 BC048196 BE295036 BG118889 CB140536 
    BU624216 BI966191 AK000863 CR605395 BQ082455 BM770351 AW445098 H42242 
    BQ102447 AI524620 BI754896 BC005031 BM564456 AA316435 BX537553 CD171639 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GIT1 (see all 12)    About this scheme

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

    ExUns: 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c
    SP1:                                                        -                     
    SP2:                                                        -                     
    SP3:                                                        -                     
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for GIT1

    (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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    GIT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACATTTGTA
    GIT1 Expression
    About this image


    GIT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    GIT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GIT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.514051
        Custom PCR Arrays for GIT1
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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 animals.

    Orthologs for GIT1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Git11 , 5 G protein-coupled receptor kinase-interactor 11, 5 90.09(n)1
    97.79(a)1
      11 (46.61 cM)5
    2169631  NM_001004144.11  NP_001004144.11 
     774935625 
    chicken
    (Gallus gallus)
    Aves GIT11 G protein-coupled receptor kinase interactor 1 80.9(n)
    87.84(a)
      417584  NM_204296.1  NP_989627.1 
    lizard
    (Anolis carolinensis)
    Reptilia GIT16
    G protein-coupled receptor kinase interacting ArfG...
    81(a)
    1 ↔ 1
    GL343462.1(346819-365012)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5689351 ARF GTPase-activating protein GIT1-like 70.95(n)
    79.03(a)
      568935  XM_692294.6  XP_697386.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167283 ARF GTPase activator 44(a)   47B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea F14F3.23 ankyrin motif 34(a)   X(10560150-10563393)   --


    ENSEMBL Gene Tree for GIT1 (if available)
    TreeFam Gene Tree for GIT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GIT1 gene
    GIT22  
    12 SIMAP similar genes for GIT1 using alignment to 11 protein entries:     GIT1_HUMAN (see all proteins):
    DKFZp686G1540    GIT2    DKFZp686G01261    ARFGAP2    ADAP2    ARFGAP3
    ARFGAP1    SMAP1    AGAP8    AGAP1    CENTG2    GABPB1

    Find genes that share paralogs with GIT1           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 GIT1 (see all 405)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs600065551,2
    C--27900854(+) GAGATAGAT/-  
            
    GGAGG
    2 -- ut311Minor allele frequency- -:0.50CSA 2
    rs2017546361,2
    C--27900859(-) CCCTCC/TATCTC 2 -- ut310--------
    rs115485591,2
    C--27900938(+) GGACCA/CAAACT 2 -- ut311Minor allele frequency- C:0.00NA 2
    rs32110441,2
    C--27901058(-) GTGCCG/TTTCCG 2 -- ut31 ese33Minor allele frequency- T:0.00MN NA 188
    rs1500988971,2
    --27901150(+) AGAAAA/GAAAAA 2 -- ut310--------
    rs1912830011,2
    --27901201(+) ACAGGC/TTGGGG 2 -- ut310--------
    rs412742761,2
    --27901328(+) CCCCCA/GGTAGG 2 -- ut310--------
    rs1845332361,2
    --27901329(+) CCCCAA/GTAGGG 2 -- ut310--------
    rs1894168221,2
    --27901360(+) GGGGCA/GCATGT 2 -- ut310--------
    rs1814086721,2
    --27901411(+) TTGCTA/GAGGGT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for GIT1 (27900487 - 27921072 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GIT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv908038CNV Loss21882294
    dgv3135n71CNV Loss21882294
    dgv3136n71CNV Loss21882294
    nsv521557CNV Loss19592680
    nsv908033CNV Loss21882294
    esv25114CNV Loss19812545
    nsv526524CNV Loss19592680
    nsv833409CNV Gain17160897

    Human Gene Mutation Database (HGMD): GIT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GIT1
    DNA2.0 Custom Variant and Variant Library Synthesis for GIT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608434    OMIM disorders: --


    Find genes that share disorders with GIT1           About GenesLikeMe

    1 Novoseek inferred disease relationship for GIT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 8.43 2 15800193 (1), 12695502 (1)

    Genetic Association Database (GAD): GIT1
    Human Genome Epidemiology (HuGE) Navigator: GIT1 (1 document)

    Export disorders for GIT1 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 GIT1 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with GIT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Beta2-adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein. (PubMed id 9826657)1, 2, 3, 9 Premont R.T.... Lefkowitz R.J. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. The GIT family of ADP-ribosylation factor GTPase-activating proteins. Functional diversity of GIT2 through alternative splicing. (PubMed id 10896954)1, 2, 3, 9 Premont R.T.... Lefkowitz R.J. (J. Biol. Chem. 2000)
    3. GIT1 functions in a motile, multi-molecular signaling complex that regulates protrusive activity and cell migration. (PubMed id 11896197)1, 2, 9 Manabe R.... Horwitz A.R. (J. Cell Sci. 2002)
    4. Mammalian Scribble forms a tight complex with the betaPIX exchange factor. (PubMed id 15182672)1, 2, 9 Audebert S.... Borg J.-P. (Curr. Biol. 2004)
    5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    6. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    7. Deregulation of scribble promotes mammary tumorigenesis and reveals a role for cell polarity in carcinoma. (PubMed id 19041750)1, 2 Zhan L.... Muthuswamy S.K. (Cell 2008)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 28964 HGNC: 4272 AceView: GIT1 Ensembl:ENSG00000108262 euGenes: HUgn28964
    ECgene: GIT1 Kegg: 28964 H-InvDB: GIT1

    (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 GIT1 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 GIT1 gene:
    Search GeneIP for patents involving GIT1

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



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