Human Gene YES1 (uc002kky.3) Description and Page Index
  Description: Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.
RefSeq Summary (NM_005433): This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]. 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 :: SRR1660805.64204.1, BC048960.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000314574.5/ ENSP00000324740.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr18:721,592-812,327 Size: 90,736 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr18:724,424-756,827 Size: 32,404 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr18:721,592-812,327)mRNA (may differ from genome)Protein (543 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Tyrosine-protein kinase Yes; EC=; AltName: Full=Proto-oncogene c-Yes; AltName: Full=p61-Yes;
FUNCTION: Non-receptor protein tyrosine kinase that is involved in the regulation of cell growth and survival, apoptosis, cell-cell adhesion, cytoskeleton remodeling, and differentiation. Stimulation by receptor tyrosine kinases (RTKs) including EGRF, PDGFR, CSF1R and FGFR leads to recruitment of YES1 to the phosphorylated receptor, and activation and phosphorylation of downstream substrates. Upon EGFR activation, promotes the phosphorylation of PARD3 to favor epithelial tight junction assembly. Participates in the phosphorylation of specific junctional components such as CTNND1 by stimulating the FYN and FER tyrosine kinases at cell-cell contacts. Upon T-cell stimulation by CXCL12, phosphorylates collapsin response mediator protein 2/DPYSL2 and induces T-cell migration. Participates in CD95L/FASLG signaling pathway and mediates AKT-mediated cell migration. Plays a role in cell cycle progression by phosphorylating the cyclin-dependent kinase 4/CDK4 thus regulating the G1 phase. Also involved in G2/M progression and cytokinesis.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
SUBUNIT: Interacts with YAP1 and CSF1R (By similarity). Interacts with CTNND1; this interaction allows YES1-mediated activation of FYN and FER and subsequent phosphorylation of CTNND1 (By similarity). Interacts with FASLG.
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm, cytoskeleton, centrosome. Cytoplasm, cytosol. Note=Newly synthesized protein initially accumulates in the Golgi region and traffics to the plasma membrane through the exocytic pathway.
TISSUE SPECIFICITY: Expressed in the epithelial cells of renal proximal tubules and stomach as well as hematopoietic cells in the bone marrow and spleen in the fetal tissues. In adult, expressed in epithelial cells of the renal proximal tubules and present in keratinocytes in the basal epidermal layer of epidermis.
PTM: Phosphorylation by CSK on the C-terminal tail maintains the enzyme in an inactive state. Autophosphorylation at Tyr-426 maintains enzyme activity by blocking CSK-mediated inhibition.
PTM: Palmitoylation at Cys-3 promotes membrane localization (By similarity).
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 SH2 domain.
SIMILARITY: Contains 1 SH3 domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): YES1
CDC HuGE Published Literature: YES1
Positive Disease Associations: Exercise Test , Myocardial Infarction , Respiratory Function Tests
Related Studies:
  1. Exercise Test
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  2. Myocardial Infarction
    , , . [PubMed 0]
  3. Respiratory Function Tests
    Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics. [PubMed 17903307]
    GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at webcite.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: YES1
Diseases sorted by gene-association score: sarcoma (17), megaesophagus (16)

-  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: 12.79 RPKM in Adipose - Visceral (Omentum)
Total median expression: 365.10 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 -131.20221-0.594 Picture PostScript Text
3' UTR -695.262832-0.246 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
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR000980 - SH2
IPR001452 - SH3_domain
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom

Pfam Domains:
PF00017 - SH2 domain
PF00018 - SH3 domain
PF00069 - Protein kinase domain
PF07653 - Variant SH3 domain
PF07714 - Protein tyrosine kinase
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
56112 - Protein kinase-like (PK-like)
55550 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on P07947
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 Details     
Gene Sorter     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001784 phosphotyrosine binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005102 receptor binding
GO:0005154 epidermal growth factor receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0019899 enzyme binding
GO:0044325 ion channel binding

Biological Process:
GO:0006464 cellular protein modification process
GO:0006468 protein phosphorylation
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0010827 regulation of glucose transport
GO:0016310 phosphorylation
GO:0016477 cell migration
GO:0030154 cell differentiation
GO:0031295 T cell costimulation
GO:0036120 cellular response to platelet-derived growth factor stimulus
GO:0038083 peptidyl-tyrosine autophosphorylation
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042127 regulation of cell proliferation
GO:0043114 regulation of vascular permeability
GO:0045087 innate immune response
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046777 protein autophosphorylation
GO:0048013 ephrin receptor signaling pathway
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050900 leukocyte migration
GO:0071300 cellular response to retinoic acid
GO:0071560 cellular response to transforming growth factor beta stimulus

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0070062 extracellular exosome

-  Descriptions from all associated GenBank mRNAs
  LF383957 - JP 2014500723-A/191460: Polycomb-Associated Non-Coding RNAs.
M15990 - Human c-yes-1 mRNA.
BC048960 - Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1, mRNA (cDNA clone MGC:57116 IMAGE:5260751), complete cds.
BC031080 - Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1, mRNA (cDNA clone IMAGE:5296819), with apparent retained intron.
AK314063 - Homo sapiens cDNA, FLJ94729, highly similar to Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1(YES1), mRNA.
AF119914 - Homo sapiens PRO3078 mRNA, complete cds.
MA619534 - JP 2018138019-A/191460: Polycomb-Associated Non-Coding RNAs.
JD061463 - Sequence 42487 from Patent EP1572962.
JD093212 - Sequence 74236 from Patent EP1572962.
JD236471 - Sequence 217495 from Patent EP1572962.
JD387583 - Sequence 368607 from Patent EP1572962.
JD348001 - Sequence 329025 from Patent EP1572962.
LF358154 - JP 2014500723-A/165657: Polycomb-Associated Non-Coding RNAs.
JD557797 - Sequence 538821 from Patent EP1572962.
LF358153 - JP 2014500723-A/165656: Polycomb-Associated Non-Coding RNAs.
LF358152 - JP 2014500723-A/165655: Polycomb-Associated Non-Coding RNAs.
JD431379 - Sequence 412403 from Patent EP1572962.
JD220051 - Sequence 201075 from Patent EP1572962.
LF358151 - JP 2014500723-A/165654: Polycomb-Associated Non-Coding RNAs.
JD325518 - Sequence 306542 from Patent EP1572962.
JD308733 - Sequence 289757 from Patent EP1572962.
KJ892393 - Synthetic construct Homo sapiens clone ccsbBroadEn_01787 YES1 gene, encodes complete protein.
AB385567 - Synthetic construct DNA, clone: pF1KB9419, Homo sapiens YES1 gene for proto-oncogene tyrosine-protein kinase Yes, complete cds, without stop codon, in Flexi system.
LF358149 - JP 2014500723-A/165652: Polycomb-Associated Non-Coding RNAs.
LF358148 - JP 2014500723-A/165651: Polycomb-Associated Non-Coding RNAs.
LF358147 - JP 2014500723-A/165650: Polycomb-Associated Non-Coding RNAs.
LF358146 - JP 2014500723-A/165649: Polycomb-Associated Non-Coding RNAs.
CU690584 - Synthetic construct Homo sapiens gateway clone IMAGE:100020936 5' read YES1 mRNA.
LF358144 - JP 2014500723-A/165647: Polycomb-Associated Non-Coding RNAs.
LF358143 - JP 2014500723-A/165646: Polycomb-Associated Non-Coding RNAs.
LF358142 - JP 2014500723-A/165645: Polycomb-Associated Non-Coding RNAs.
LF358141 - JP 2014500723-A/165644: Polycomb-Associated Non-Coding RNAs.
LF358140 - JP 2014500723-A/165643: Polycomb-Associated Non-Coding RNAs.
LF358137 - JP 2014500723-A/165640: Polycomb-Associated Non-Coding RNAs.
LF358135 - JP 2014500723-A/165638: Polycomb-Associated Non-Coding RNAs.
LF358134 - JP 2014500723-A/165637: Polycomb-Associated Non-Coding RNAs.
MA593731 - JP 2018138019-A/165657: Polycomb-Associated Non-Coding RNAs.
MA593730 - JP 2018138019-A/165656: Polycomb-Associated Non-Coding RNAs.
MA593729 - JP 2018138019-A/165655: Polycomb-Associated Non-Coding RNAs.
MA593728 - JP 2018138019-A/165654: Polycomb-Associated Non-Coding RNAs.
MA593726 - JP 2018138019-A/165652: Polycomb-Associated Non-Coding RNAs.
MA593725 - JP 2018138019-A/165651: Polycomb-Associated Non-Coding RNAs.
MA593724 - JP 2018138019-A/165650: Polycomb-Associated Non-Coding RNAs.
MA593723 - JP 2018138019-A/165649: Polycomb-Associated Non-Coding RNAs.
MA593721 - JP 2018138019-A/165647: Polycomb-Associated Non-Coding RNAs.
MA593720 - JP 2018138019-A/165646: Polycomb-Associated Non-Coding RNAs.
MA593719 - JP 2018138019-A/165645: Polycomb-Associated Non-Coding RNAs.
MA593718 - JP 2018138019-A/165644: Polycomb-Associated Non-Coding RNAs.
MA593717 - JP 2018138019-A/165643: Polycomb-Associated Non-Coding RNAs.
MA593714 - JP 2018138019-A/165640: Polycomb-Associated Non-Coding RNAs.
MA593712 - JP 2018138019-A/165638: Polycomb-Associated Non-Coding RNAs.
MA593711 - JP 2018138019-A/165637: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04520 - Adherens junction
hsa04530 - Tight junction

Reactome (by CSHL, EBI, and GO)

Protein P07947 (Reactome details) participates in the following event(s):

R-HSA-205205 Interaction of Src family kinases with p-KIT
R-HSA-388833 Phosphorylation of CTLA-4
R-HSA-3928584 p-EPHs bind SRC,FYN,YES,LYN
R-HSA-879917 CBL, GRB2, FYN and PI3K p85 subunit are constitutively associated
R-HSA-8937820 SRC,YES1 bind YAP1
R-HSA-8937844 SRC,YES1 phosphorylate YAP1
R-HSA-205238 SHP2 interacts with p-KIT
R-HSA-205319 Interaction of APS and p-KIT
R-HSA-1433451 JAK2 binds to p-KIT
R-HSA-1472121 Phosphorylation of p-KIT on Y900 by Src kinases
R-HSA-388829 SHP2 phosphatase binds CTLA-4
R-HSA-210291 Phosphorylation of PECAM-1 by Fyn or Lyn or c-Src
R-HSA-388831 Phosphorylation of CD28
R-HSA-3928623 EPHBs bind NMDARs
R-HSA-3928607 p-EPHs bind VAV2,3
R-HSA-3928602 NGEF binds EPHA
R-HSA-4093327 EPHA binds TIAM1
R-HSA-912629 CBL is tyrosine phosphorylated
R-HSA-1963586 SRC family kinases phosphorylate ERBB2
R-HSA-1433506 Phosphorylation of APS
R-HSA-1433488 Phosphorylation of SHP2 by SFKs
R-HSA-1433418 Phosphorylation of JAK2
R-HSA-1433456 Recruitment of STATs
R-HSA-1433428 GRB2 is indirectly recruited to p-KIT through SHP2
R-HSA-1470012 Disassociation and translocation of STATs to the nucleus
R-HSA-1470010 Dimerization of STATs
R-HSA-1433542 Phosphorylation and activation of VAV1
R-HSA-3928645 EPHB:NMDAR binds TIAM1
R-HSA-3928583 FYN phosphorylates NMDAR2B
R-HSA-3928604 SFKs phosphorylate VAV2,3
R-HSA-3928648 SFKs phosphorylate NGEF
R-HSA-205244 Recruitment of CBL to KIT
R-HSA-205234 Indirect recruitment of GAB2 to p-KIT
R-HSA-3928627 EPHB phosphorylates TIAM1
R-HSA-3928628 VAV exchanges GTP for GDP on RAC1, activating it
R-HSA-3928642 TIAM1 exchanges GTP for GDP on RAC1, activating it
R-HSA-3928651 NGEF exchanges GTP for GDP on RHOA
R-HSA-1562641 Indirect recruitment of PI3K to KIT via p(Y)-GAB2
R-HSA-4093336 p-TIAM1 exchanges GTP for GDP on RAC1, activating it
R-HSA-1433514 Synthesis of PIP3 from PIP2 by PI3K
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-389513 CTLA4 inhibitory signaling
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-912631 Regulation of signaling by CBL
R-HSA-8940973 RUNX2 regulates osteoblast differentiation
R-HSA-1433559 Regulation of KIT signaling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-388841 Costimulation by the CD28 family
R-HSA-210990 PECAM1 interactions
R-HSA-389356 CD28 co-stimulation
R-HSA-2029481 FCGR activation
R-HSA-3928662 EPHB-mediated forward signaling
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-3928663 EPHA-mediated growth cone collapse
R-HSA-422475 Axon guidance
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-8941326 RUNX2 regulates bone development
R-HSA-1227986 Signaling by ERBB2
R-HSA-162582 Signal Transduction
R-HSA-1280218 Adaptive Immune System
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-1266738 Developmental Biology
R-HSA-449147 Signaling by Interleukins
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-168256 Immune System
R-HSA-109582 Hemostasis
R-HSA-168249 Innate Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLB3, D3DUH1, NM_005433, NP_005424, P07947, YES, YES_HUMAN
UCSC ID: uc002kky.3
RefSeq Accession: NM_005433
Protein: P07947 (aka YES_HUMAN)
CCDS: CCDS11824.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_005433.3
exon count: 12CDS single in 3' UTR: no RNA size: 4685
ORF size: 1632CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 3448.50frame shift in genome: no % Coverage: 100.00
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.