Human Gene YWHAG (uc011kgj.1) Description and Page Index
  Description: Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.
RefSeq Summary (NM_012479): This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [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 :: BC020963.2, AK024230.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000307630.5/ ENSP00000306330.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:75,956,108-75,988,342 Size: 32,235 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr7:75,958,894-75,988,125 Size: 29,232 Coding Exon Count: 2 

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 (chr7:75,956,108-75,988,342)mRNA (may differ from genome)Protein (247 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: 1433G_HUMAN
DESCRIPTION: RecName: Full=14-3-3 protein gamma; AltName: Full=Protein kinase C inhibitor protein 1; Short=KCIP-1; Contains: RecName: Full=14-3-3 protein gamma, N-terminally processed;
FUNCTION: Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner.
SUBUNIT: Homodimer. Interacts with SAMSN1 (By similarity). Interacts with RAF1, SSH1 and CRTC2/TORC2. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with GAB2. Interacts with MDM4 (phosphorylated); negatively regulates MDM4 activity toward TP53. Interacts with PKA-phosphorylated AANAT.
INTERACTION: Q14678-2:KANK1; NbExp=3; IntAct=EBI-359832, EBI-6173812; Q7KZI7:MARK2; NbExp=2; IntAct=EBI-359832, EBI-516560; P27448:MARK3; NbExp=2; IntAct=EBI-359832, EBI-707595; P62258:YWHAE; NbExp=4; IntAct=EBI-359832, EBI-356498;
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Highly expressed in brain, skeletal muscle, and heart.
PTM: Phosphorylated by various PKC isozymes.
SIMILARITY: Belongs to the 14-3-3 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): YWHAG
CDC HuGE Published Literature: YWHAG
Positive Disease Associations: Multiple Sclerosis
Related Studies:
  1. Multiple Sclerosis
    Farren B S Briggs et al. Genes and immunity 2011, Genome-wide association study of severity in multiple sclerosis., Genes and immunity. [PubMed 21654844]
    the genetic architecture of disease severity is likely polygenic and comprised of modest effects, similar to what has been described for MS susceptibility, to date.
  2. Multiple Sclerosis
    Farren B S Briggs et al. Genes and immunity 2011, Genome-wide association study of severity in multiple sclerosis., Genes and immunity. [PubMed 21654844]
    the genetic architecture of disease severity is likely polygenic and comprised of modest effects, similar to what has been described for MS susceptibility, to date.

-  MalaCards Disease Associations
  MalaCards Gene Search: YWHAG
Diseases sorted by gene-association score: creutzfeldt-jakob disease (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000082 Acetaminophen
  • D001564 Benzo(a)pyrene
  • C006253 pirinixic acid
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C438868 3,4,5-trihydroxy-2--methoxy-8,8-dimethyl-N-(hexahydro-2-oxo-6-(cyclohexylcarbonyl)oxy-2H-azepin-3-yl)non-6-enamide
  • C009505 4,4'-diaminodiphenylmethane
  • C035207 4-amino-2,6-dinitrotoluene
  • C012606 4-vinyl-1-cyclohexene dioxide
          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: 274.08 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 3154.89 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 -84.50217-0.389 Picture PostScript Text
3' UTR -834.062786-0.299 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
IPR000308 - 14-3-3
IPR023409 - 14-3-3_CS
IPR023410 - 14-3-3_domain

Pfam Domains:
PF00244 - 14-3-3 protein

SCOP Domains:
48445 - 14-3-3 protein

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

2B05
- X-ray MuPIT

3UZD
- X-ray MuPIT

4E2E
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61981
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 BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005080 protein kinase C binding
GO:0005159 insulin-like growth factor receptor binding
GO:0005515 protein binding
GO:0008426 protein kinase C inhibitor activity
GO:0019904 protein domain specific binding
GO:0030971 receptor tyrosine kinase binding
GO:0042802 identical protein binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0006469 negative regulation of protein kinase activity
GO:0006605 protein targeting
GO:0009966 regulation of signal transduction
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0032869 cellular response to insulin stimulus
GO:0045664 regulation of neuron differentiation
GO:0048167 regulation of synaptic plasticity
GO:0061024 membrane organization
GO:0071901 negative regulation of protein serine/threonine kinase activity
GO:0097711 ciliary basal body docking
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0031982 vesicle
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AB024334 - Homo sapiens mRNA for 14-3-3gamma, complete cds.
BC020963 - Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide, mRNA (cDNA clone MGC:8908 IMAGE:3915246), complete cds.
AK024230 - Homo sapiens cDNA FLJ14168 fis, clone NT2RP2001440, highly similar to 14-3-3 protein gamma.
JD377370 - Sequence 358394 from Patent EP1572962.
JD375680 - Sequence 356704 from Patent EP1572962.
JD087237 - Sequence 68261 from Patent EP1572962.
JD100666 - Sequence 81690 from Patent EP1572962.
JD357394 - Sequence 338418 from Patent EP1572962.
JD540106 - Sequence 521130 from Patent EP1572962.
JD244865 - Sequence 225889 from Patent EP1572962.
JD166271 - Sequence 147295 from Patent EP1572962.
JD510667 - Sequence 491691 from Patent EP1572962.
JD073249 - Sequence 54273 from Patent EP1572962.
JD239522 - Sequence 220546 from Patent EP1572962.
JD139421 - Sequence 120445 from Patent EP1572962.
JD419978 - Sequence 401002 from Patent EP1572962.
JD224049 - Sequence 205073 from Patent EP1572962.
JD232920 - Sequence 213944 from Patent EP1572962.
JD518865 - Sequence 499889 from Patent EP1572962.
JD039298 - Sequence 20322 from Patent EP1572962.
JD245271 - Sequence 226295 from Patent EP1572962.
JD239532 - Sequence 220556 from Patent EP1572962.
JD415949 - Sequence 396973 from Patent EP1572962.
JD062538 - Sequence 43562 from Patent EP1572962.
JD057037 - Sequence 38061 from Patent EP1572962.
JD394512 - Sequence 375536 from Patent EP1572962.
JD530383 - Sequence 511407 from Patent EP1572962.
JD440300 - Sequence 421324 from Patent EP1572962.
JD344820 - Sequence 325844 from Patent EP1572962.
JD350787 - Sequence 331811 from Patent EP1572962.
JD279745 - Sequence 260769 from Patent EP1572962.
AK295029 - Homo sapiens cDNA FLJ51843 complete cds, highly similar to 14-3-3 protein gamma.
JD059190 - Sequence 40214 from Patent EP1572962.
JD103527 - Sequence 84551 from Patent EP1572962.
JD156635 - Sequence 137659 from Patent EP1572962.
JD448925 - Sequence 429949 from Patent EP1572962.
JD181848 - Sequence 162872 from Patent EP1572962.
JD243609 - Sequence 224633 from Patent EP1572962.
JD359780 - Sequence 340804 from Patent EP1572962.
JD377603 - Sequence 358627 from Patent EP1572962.
JD386437 - Sequence 367461 from Patent EP1572962.
AK293505 - Homo sapiens cDNA FLJ52141 complete cds, highly similar to 14-3-3 protein gamma.
CR541904 - Homo sapiens full open reading frame cDNA clone RZPDo834H0133D for gene YWHAG, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide; complete cds, incl. stopcodon.
CU676788 - Synthetic construct Homo sapiens gateway clone IMAGE:100016886 5' read YWHAG mRNA.
KJ897748 - Synthetic construct Homo sapiens clone ccsbBroadEn_07142 YWHAG gene, encodes complete protein.
AB384983 - Synthetic construct DNA, clone: pF1KB4712, Homo sapiens YWHAG gene for 14-3-3 protein gamma, complete cds, without stop codon, in Flexi system.
CR541925 - Homo sapiens full open reading frame cDNA clone RZPDo834F1133D for gene YWHAG, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide; complete cds, without stopcodon.
AF142498 - Homo sapiens 14-3-3 gamma protein mRNA, complete cds.
DQ600310 - Homo sapiens piRNA piR-38376, complete sequence.
JD109287 - Sequence 90311 from Patent EP1572962.
JD122376 - Sequence 103400 from Patent EP1572962.
JD124055 - Sequence 105079 from Patent EP1572962.
JD520542 - Sequence 501566 from Patent EP1572962.
JD150419 - Sequence 131443 from Patent EP1572962.
JD187551 - Sequence 168575 from Patent EP1572962.
JD187215 - Sequence 168239 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04110 - Cell cycle
hsa04114 - Oocyte meiosis
hsa04722 - Neurotrophin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein P61981 (Reactome details) participates in the following event(s):

R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-75016 Association of p-S216-CDC25C with 14-3-3 proteins
R-HSA-139899 Sequestration of BAD protein by 14-3-3
R-HSA-1445149 14-3-3 binds p-5S,T642-AS160 (TBC1D4)
R-HSA-1454689 14-3-3 Binds p-S237-TBC1D1
R-HSA-5632732 p-S939,T1462-TSC2 binding to 14-3-3 dimer is negatively regulated by DDIT4
R-HSA-5632738 DDIT4 binds 14-3-3 dimer
R-HSA-139906 Activation of BAD by calcineurin
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-75035 Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-111447 Activation of BAD and translocation to mitochondria
R-HSA-1445148 Translocation of GLUT4 to the plasma membrane
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-69473 G2/M DNA damage checkpoint
R-HSA-195258 RHO GTPase Effectors
R-HSA-114452 Activation of BH3-only proteins
R-HSA-199991 Membrane Trafficking
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69481 G2/M Checkpoints
R-HSA-194315 Signaling by Rho GTPases
R-HSA-109606 Intrinsic Pathway for Apoptosis
R-HSA-5653656 Vesicle-mediated transport
R-HSA-212436 Generic Transcription Pathway
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-162582 Signal Transduction
R-HSA-109581 Apoptosis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1640170 Cell Cycle
R-HSA-5357801 Programmed Cell Death
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: 1433G_HUMAN, NM_012479, NP_036611, O70457, P35214, P61981, Q6FH52, Q9UDP2, Q9UN99
UCSC ID: uc011kgj.1
RefSeq Accession: NM_012479
Protein: P61981 (aka 1433G_HUMAN or 143G_HUMAN)
CCDS: CCDS5584.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012479.3
exon count: 2CDS single in 3' UTR: no RNA size: 3779
ORF size: 744CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1688.00frame shift in genome: no % Coverage: 99.15
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.