Human Gene GAB3 (uc004fmk.1)
  Description: Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.
RefSeq Summary (NM_001081573): This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
Transcript (Including UTRs)
   Position: hg19 chrX:153,903,527-153,979,348 Size: 75,822 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chrX:153,906,455-153,979,300 Size: 72,846 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:153,903,527-153,979,348)mRNA (may differ from genome)Protein (587 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: E9PB44_HUMAN
DESCRIPTION: SubName: Full=GRB2-associated-binding protein 3;
SIMILARITY: Contains 1 PH domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GAB3
CDC HuGE Published Literature: GAB3

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 16.10 RPKM in Spleen
Total median expression: 122.39 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 -22.3048-0.465 Picture PostScript Text
3' UTR -937.632928-0.320 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
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on E9PB44
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AL832051 - Homo sapiens mRNA; cDNA DKFZp313K1610 (from clone DKFZp313K1610).
AY057989 - Homo sapiens GAB3 mRNA, complete cds.
JD296741 - Sequence 277765 from Patent EP1572962.
JD386239 - Sequence 367263 from Patent EP1572962.
JD519956 - Sequence 500980 from Patent EP1572962.
JD214148 - Sequence 195172 from Patent EP1572962.
JD414069 - Sequence 395093 from Patent EP1572962.
JD239707 - Sequence 220731 from Patent EP1572962.
JD172519 - Sequence 153543 from Patent EP1572962.
JD099599 - Sequence 80623 from Patent EP1572962.
JD299016 - Sequence 280040 from Patent EP1572962.
JD567117 - Sequence 548141 from Patent EP1572962.
JD527495 - Sequence 508519 from Patent EP1572962.
JD343527 - Sequence 324551 from Patent EP1572962.
JD186796 - Sequence 167820 from Patent EP1572962.
JD419985 - Sequence 401009 from Patent EP1572962.
JD418714 - Sequence 399738 from Patent EP1572962.
JD494888 - Sequence 475912 from Patent EP1572962.
AK126283 - Homo sapiens cDNA FLJ44298 fis, clone TRACH2023299, highly similar to Homo sapiens GRB2-associated binding protein 3 (GAB3), mRNA.
JD198896 - Sequence 179920 from Patent EP1572962.
JD225574 - Sequence 206598 from Patent EP1572962.
JD508894 - Sequence 489918 from Patent EP1572962.
JD208338 - Sequence 189362 from Patent EP1572962.
JD400430 - Sequence 381454 from Patent EP1572962.
JD137374 - Sequence 118398 from Patent EP1572962.
JD521372 - Sequence 502396 from Patent EP1572962.
JD299733 - Sequence 280757 from Patent EP1572962.
JD410033 - Sequence 391057 from Patent EP1572962.
JD299734 - Sequence 280758 from Patent EP1572962.
JD079206 - Sequence 60230 from Patent EP1572962.
JD206609 - Sequence 187633 from Patent EP1572962.
JD369298 - Sequence 350322 from Patent EP1572962.
JD486066 - Sequence 467090 from Patent EP1572962.
JD285578 - Sequence 266602 from Patent EP1572962.
JD196275 - Sequence 177299 from Patent EP1572962.
JD345871 - Sequence 326895 from Patent EP1572962.
JD294749 - Sequence 275773 from Patent EP1572962.
JD096565 - Sequence 77589 from Patent EP1572962.
JD114553 - Sequence 95577 from Patent EP1572962.
JD467788 - Sequence 448812 from Patent EP1572962.
JD380511 - Sequence 361535 from Patent EP1572962.
JD175482 - Sequence 156506 from Patent EP1572962.
JD526558 - Sequence 507582 from Patent EP1572962.
JD540207 - Sequence 521231 from Patent EP1572962.
JD257912 - Sequence 238936 from Patent EP1572962.
AK307927 - Homo sapiens cDNA, FLJ97875.
JD509368 - Sequence 490392 from Patent EP1572962.
JD043254 - Sequence 24278 from Patent EP1572962.
JD073412 - Sequence 54436 from Patent EP1572962.
BC141539 - Synthetic construct Homo sapiens clone IMAGE:100014583, MGC:175318 GRB2-associated binding protein 3 (GAB3) mRNA, encodes complete protein.
AB463697 - Synthetic construct DNA, clone: pF1KB7259, Homo sapiens GAB3 gene for GRB2-associated binding protein 3, without stop codon, in Flexi system.
DQ656063 - Homo sapiens clone UGL126-B-H6, mRNA sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: E9PB44, E9PB44_HUMAN, NM_001081573, NP_001075042
UCSC ID: uc004fmk.1
RefSeq Accession: NM_001081573
Protein: E9PB44 CCDS: CCDS14760.1, CCDS48198.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001081573.1
exon count: 10CDS single in 3' UTR: no RNA size: 4756
ORF size: 1764CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3728.00frame shift in genome: no % Coverage: 99.66
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.