Human Gene GRB7 (ENST00000309156.9_5) from GENCODE V47lift37
  Description: growth factor receptor bound protein 7, transcript variant 1 (from RefSeq NM_005310.5)
Gencode Transcript: ENST00000309156.9_5
Gencode Gene: ENSG00000141738.14_9
Transcript (Including UTRs)
   Position: hg19 chr17:37,894,191-37,903,538 Size: 9,348 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr17:37,898,555-37,903,150 Size: 4,596 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:37,894,191-37,903,538)mRNA (may differ from genome)Protein (532 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRB7_HUMAN
DESCRIPTION: RecName: Full=Growth factor receptor-bound protein 7; AltName: Full=B47; AltName: Full=Epidermal growth factor receptor GRB-7; AltName: Full=GRB7 adapter protein;
FUNCTION: Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration. Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress (By similarity).
SUBUNIT: Homodimer. Interacts (via SH2 domain) with EGFR, ERBB2, ERBB3 (when phosphorylated), ERBB4 (when phosphorylated), EPHB1, INSR, FGFR1, PDGFRA (tyrosine phosphorylated) and PDGFRB (tyrosine phosphorylated). Interacts with SHC1. Interacts with RND1. Interacts (when tyrosine phosphorylated) with FHL2 and HAX1 (By similarity). Interacts (via SH2 domain) with RET and PTK2/FAK1. Interacts (when not phosphorylated) with ELAVL1. In stressed cells, but not in normal cells, part of a complex that contains at least GRB7, PTK2/FAK1, STAU1, ELAVL1 and TIA1. Interacts (via SH2 domain) with KIT (phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (By similarity).
INTERACTION: Self; NbExp=2; IntAct=EBI-970191, EBI-970191; P62157:CALM (xeno); NbExp=2; IntAct=EBI-970191, EBI-397403; P62161:Calm3 (xeno); NbExp=9; IntAct=EBI-970191, EBI-397530; P54762:EPHB1; NbExp=4; IntAct=EBI-970191, EBI-80252; O00165:HAX1; NbExp=2; IntAct=EBI-970191, EBI-357001; Q92730:RND1; NbExp=4; IntAct=EBI-970191, EBI-448618;
SUBCELLULAR LOCATION: Cytoplasm. Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic granule (By similarity). Cell projection. Note=Predominantly cytoplasmic. Detected in stress granules, where mRNA is stored under stress conditions (By similarity).
DOMAIN: The PH domain mediates interaction with membranes containing phosphoinositides.
PTM: Phosphorylated on serine and threonine residues in response to heregulin. Phosphorylated on tyrosine residues by TEK/TIE2. Phosphorylated on tyrosine residues in response to NTN1 signaling. Phosphorylation promotes stress granule disassembly during recovery after cellular stress (By similarity). Phosphorylated on tyrosine residues by PTK2/FAK1, and possibly also other kinases. Phosphorylation is enhanced by activation of receptor kinases. Tyrosine phosphorylation is essential for activation of down- stream protein kinases.
SIMILARITY: Belongs to the GRB7/10/14 family.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 Ras-associating domain.
SIMILARITY: Contains 1 SH2 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GRB7
Diseases sorted by gene-association score: silver-russell syndrome (5), breast cancer (3)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.96 RPKM in Esophagus - Mucosa
Total median expression: 219.66 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.60246-0.352 Picture PostScript Text
3' UTR -158.00388-0.407 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
IPR015042 - BPS-dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000159 - Ras-assoc
IPR000980 - SH2

Pfam Domains:
PF00017 - SH2 domain
PF00169 - PH domain
PF00788 - Ras association (RalGDS/AF-6) domain
PF08947 - BPS (Between PH and SH2)

SCOP Domains:
50729 - PH domain-like
54236 - Ubiquitin-like
55550 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1MW4 - NMR MuPIT 1WGR - NMR MuPIT 2L4K - NMR MuPIT 2QMS - X-ray MuPIT 3PQZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14451
FrontTopSide
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0019901 protein kinase binding
GO:0035091 phosphatidylinositol binding
GO:0042802 identical protein binding

Biological Process:
GO:0007165 signal transduction
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007411 axon guidance
GO:0009967 positive regulation of signal transduction
GO:0017148 negative regulation of translation
GO:0030335 positive regulation of cell migration
GO:0034063 stress granule assembly
GO:0038128 ERBB2 signaling pathway
GO:0050900 leukocyte migration

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0030054 cell junction
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  KJ891295 - Synthetic construct Homo sapiens clone ccsbBroadEn_00689 GRB7 gene, encodes complete protein.
AK314368 - Homo sapiens cDNA, FLJ95136, highly similar to Homo sapiens growth factor receptor-bound protein 7 (GRB7), mRNA.
AK222849 - Homo sapiens mRNA for growth factor receptor-bound protein 7 variant, clone: HEP10521.
AK222870 - Homo sapiens mRNA for growth factor receptor-bound protein 7 variant, clone: HEP15586.
AK027729 - Homo sapiens cDNA FLJ14823 fis, clone OVARC1000649, highly similar to Growth factor receptor-bound protein 7.
D43772 - Homo sapiens mRNA for GRB-7 SH2 domain protein, complete cds.
JD406370 - Sequence 387394 from Patent EP1572962.
JD048294 - Sequence 29318 from Patent EP1572962.
AK294620 - Homo sapiens cDNA FLJ57923 complete cds, highly similar to Growth factor receptor-bound protein 7.
BC006535 - Homo sapiens growth factor receptor-bound protein 7, mRNA (cDNA clone MGC:1444 IMAGE:2824302), complete cds.
AK125544 - Homo sapiens cDNA FLJ43556 fis, clone PROST2018511, highly similar to Growth factor receptor-bound protein 7.
AK290115 - Homo sapiens cDNA FLJ75489 complete cds, highly similar to Homo sapiens growth factor receptor-bound protein 7, transcript variant 2, mRNA.
JD218069 - Sequence 199093 from Patent EP1572962.
AB008789 - Homo sapiens mRNA for grb7 protein, complete cds.
AB008790 - Homo sapiens mRNA for Grb7V protein, complete cds.
AB528516 - Synthetic construct DNA, clone: pF1KB5920, Homo sapiens GRB7 gene for growth factor receptor-bound protein 7, without stop codon, in Flexi system.
DQ893861 - Synthetic construct Homo sapiens clone IMAGE:100008321; FLH165033.01L; RZPDo839F01157D growth factor receptor-bound protein 7 (GRB7) gene, encodes complete protein.
EU176171 - Synthetic construct Homo sapiens clone IMAGE:100006339; FLH165040.01X; RZPDo839H01250D growth factor receptor-bound protein 7 (GRB7) gene, encodes complete protein.
CU675443 - Synthetic construct Homo sapiens gateway clone IMAGE:100018359 5' read GRB7 mRNA.
KU178103 - Homo sapiens growth factor receptor-bound protein 7 isoform 1 (GRB7) mRNA, partial cds.
KU178104 - Homo sapiens growth factor receptor-bound protein 7 isoform 2 (GRB7) mRNA, complete cds, alternatively spliced.
BT006686 - Homo sapiens growth factor receptor-bound protein 7 mRNA, complete cds.
D87513 - Homo sapiens mRNA for Grb7 protein, partial cds.
JD479757 - Sequence 460781 from Patent EP1572962.
JD270905 - Sequence 251929 from Patent EP1572962.
JD483858 - Sequence 464882 from Patent EP1572962.
JD109862 - Sequence 90886 from Patent EP1572962.
JD293778 - Sequence 274802 from Patent EP1572962.
JD536750 - Sequence 517774 from Patent EP1572962.
JD124472 - Sequence 105496 from Patent EP1572962.
JD366820 - Sequence 347844 from Patent EP1572962.
JD191123 - Sequence 172147 from Patent EP1572962.
JD525752 - Sequence 506776 from Patent EP1572962.
JD108321 - Sequence 89345 from Patent EP1572962.
JD127716 - Sequence 108740 from Patent EP1572962.
JD153733 - Sequence 134757 from Patent EP1572962.

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

Protein Q14451 (Reactome details) participates in the following event(s):

R-HSA-204773 Interaction of Tie2 and Grb7
R-HSA-382055 Grb7 binds to the active PDGF receptor
R-HSA-1306953 GRB7 binds phosphorylated heterodimer of ERBB2 and ERBB3
R-HSA-1433501 Interaction of other adapter proteins with p-KIT
R-HSA-8853753 2x p-5Y-RET:GDNF:GFRA complexes bind GRB7,10
R-HSA-210993 Tie2 Signaling
R-HSA-186763 Downstream signal transduction
R-HSA-1306955 GRB7 events in ERBB2 signaling
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-8853659 RET signaling
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-186797 Signaling by PDGF
R-HSA-1227986 Signaling by ERBB2
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-422475 Axon guidance
R-HSA-109582 Hemostasis
R-HSA-162582 Signal Transduction
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAV1, B3KNL0, B3KWP9, B7WP75, ENST00000309156.1, ENST00000309156.2, ENST00000309156.3, ENST00000309156.4, ENST00000309156.5, ENST00000309156.6, ENST00000309156.7, ENST00000309156.8, GRB7_HUMAN, J3KQM4, NM_005310, Q14451, Q53YD3, Q92568, Q96DF9, Q9Y220, uc317olu.1, uc317olu.2
UCSC ID: ENST00000309156.9_5
RefSeq Accession: NM_005310.5
Protein: Q14451 (aka GRB7_HUMAN)

-  Gene Model Information
  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.