Human Gene GRAP (uc002guy.3) Description and Page Index
  Description: Homo sapiens GRB2-related adaptor protein (GRAP), mRNA.
RefSeq Summary (NM_006613): This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.86767.1, DRR138524.335083.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:18,923,990-18,950,336 Size: 26,347 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr17:18,925,272-18,950,239 Size: 24,968 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:18,923,990-18,950,336)mRNA (may differ from genome)Protein (217 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=GRB2-related adapter protein;
FUNCTION: Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway.
SUBUNIT: Associates through its SH2 domain with ligand-activated receptors for stem cell factor (KIT) and erythropoietin (EPOR). Also forms a stable complex with the Bcr-Abl oncoprotein. GRAP is associated with the Ras guanine nucleotide exchange factor SOS1, primarily through its N-terminal SH3 domain. Interacts with phosphorylated LAT upon TCR activation. Interacts with SHB.
SIMILARITY: Belongs to the GRB2/sem-5/DRK family.
SIMILARITY: Contains 1 SH2 domain.
SIMILARITY: Contains 2 SH3 domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GRAP
CDC HuGE Published Literature: GRAP

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.45 RPKM in Spleen
Total median expression: 39.14 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -34.2097-0.353 Picture PostScript Text
3' UTR -587.801282-0.459 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000108 - p67phox
IPR000980 - SH2
IPR011511 - SH3_2
IPR001452 - SH3_domain

Pfam Domains:
PF00017 - SH2 domain
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
55550 - SH2 domain

ModBase Predicted Comparative 3D Structure on Q13588
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005070 SH3/SH2 adaptor activity
GO:0005102 receptor binding
GO:0005515 protein binding

Biological Process:
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007265 Ras protein signal transduction
GO:0007267 cell-cell signaling
GO:0009967 positive regulation of signal transduction
GO:0016477 cell migration
GO:0030154 cell differentiation
GO:0038083 peptidyl-tyrosine autophosphorylation
GO:0042127 regulation of cell proliferation
GO:0045087 innate immune response

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane

-  Descriptions from all associated GenBank mRNAs
  BC063035 - Homo sapiens GRB2-related adaptor protein, mRNA (cDNA clone MGC:64880 IMAGE:5757176), complete cds.
BC035856 - Homo sapiens GRB2-related adaptor protein, mRNA (cDNA clone MGC:46137 IMAGE:5768298), complete cds.
U52518 - Human Grb2-related adaptor protein (Grap) mRNA, complete cds.
JD520562 - Sequence 501586 from Patent EP1572962.
JD161056 - Sequence 142080 from Patent EP1572962.
JD285370 - Sequence 266394 from Patent EP1572962.
CR541941 - Homo sapiens full open reading frame cDNA clone RZPDo834D0834D for gene GRAP, GRB2-related adaptor protein; complete cds, incl. stopcodon.
CU687638 - Synthetic construct Homo sapiens gateway clone IMAGE:100021612 5' read GRAP mRNA.
BT019981 - Homo sapiens GRB2-related adaptor protein mRNA, complete cds.
KJ906056 - Synthetic construct Homo sapiens clone ccsbBroadEn_15726 GRAP gene, encodes complete protein.
CR541966 - Homo sapiens full open reading frame cDNA clone RZPDo834F0834D for gene GRAP, GRB2-related adaptor protein; complete cds, without stopcodon.
AB528891 - Synthetic construct DNA, clone: pF1KE0645, Homo sapiens GRAP gene for GRB2-related adaptor protein, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13588 (Reactome details) participates in the following event(s):

R-HSA-1433501 Interaction of other adapter proteins with p-KIT
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: GRAP_HUMAN, NM_006613, NP_006604, Q13588
UCSC ID: uc002guy.3
RefSeq Accession: NM_006613
Protein: Q13588 (aka GRAP_HUMAN)
CCDS: CCDS11202.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_006613.3
exon count: 5CDS single in 3' UTR: no RNA size: 2089
ORF size: 654CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1508.00frame shift in genome: no % Coverage: 97.32
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.