Human Gene WWC1 (uc003lzv.3)
  Description: Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 2, mRNA.
RefSeq Summary (NM_001161662): The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].
Transcript (Including UTRs)
   Position: hg19 chr5:167,719,065-167,899,308 Size: 180,244 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr5:167,719,158-167,896,022 Size: 176,865 Coding Exon Count: 23 

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 (chr5:167,719,065-167,899,308)mRNA (may differ from genome)Protein (1118 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
TreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: H3BLZ3_HUMAN
DESCRIPTION: SubName: Full=Protein KIBRA; Flags: Fragment;
SIMILARITY: Contains 1 C2 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): WWC1
CDC HuGE Published Literature: WWC1
Positive Disease Associations: memory disturbance , monocyte chemoattractant protein 1 (66-77)
Related Studies:
  1. memory disturbance
    Schaper, K. et al. 2007, KIBRA gene variants are associated with episodic memory in healthy elderly, Neurobiol Aging 2007. [PubMed 17353070]
  2. monocyte chemoattractant protein 1 (66-77)
    , , . [PubMed 0]

-  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: 19.49 RPKM in Kidney - Cortex
Total median expression: 241.15 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 -49.0093-0.527 Picture PostScript Text
3' UTR -1088.363286-0.331 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
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00168 - C2 domain
PF00397 - WW domain

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
51045 - WW domain

ModBase Predicted Comparative 3D Structure on H3BLZ3
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  AF506799 - Homo sapiens KIBRA protein (KIBRA) mRNA, complete cds.
AK296323 - Homo sapiens cDNA FLJ61299 complete cds, highly similar to WW domain-containing protein 1.
AB527269 - Synthetic construct DNA, clone: pF1KA0869, Homo sapiens WWC1 gene for WW and C2 domain containing protien 1, without stop codon, in Flexi system.
BC156527 - Synthetic construct Homo sapiens clone IMAGE:100063148, MGC:190707 WW and C2 domain containing 1 (WWC1) mRNA, encodes complete protein.
BC172519 - Synthetic construct Homo sapiens clone IMAGE:100069213, MGC:199224 WW and C2 domain containing 1 (WWC1) mRNA, encodes complete protein.
AK126376 - Homo sapiens cDNA FLJ44412 fis, clone UTERU1000249, highly similar to WW domain-containing protein 1.
JD200554 - Sequence 181578 from Patent EP1572962.
BX640827 - Homo sapiens mRNA; cDNA DKFZp686M01205 (from clone DKFZp686M01205).
AK001727 - Homo sapiens cDNA FLJ10865 fis, clone NT2RP4001610, highly similar to Homo sapiens mRNA for KIAA0869 protein.
AF530058 - Homo sapiens HBeAg-binding protein 3 (HBEBP3) mRNA, complete cds.
AB020676 - Homo sapiens mRNA for KIAA0869 protein, partial cds.
BC042553 - Homo sapiens cDNA clone IMAGE:5177040, complete cds.
AK027022 - Homo sapiens cDNA: FLJ23369 fis, clone HEP15940.
AY189820 - Homo sapiens HBeAg-binding protein (HBEBP36) mRNA, complete cds.
BC004394 - Homo sapiens WW and C2 domain containing 1, mRNA (cDNA clone IMAGE:3635709), partial cds.
BC017746 - Homo sapiens WW and C2 domain containing 1, mRNA (cDNA clone IMAGE:4413016), partial cds.
JD178401 - Sequence 159425 from Patent EP1572962.
JD408171 - Sequence 389195 from Patent EP1572962.
JD178536 - Sequence 159560 from Patent EP1572962.
BC038463 - Homo sapiens WW, C2 and coiled-coil domain containing 1, mRNA (cDNA clone IMAGE:5112988).
JD524139 - Sequence 505163 from Patent EP1572962.
JD381504 - Sequence 362528 from Patent EP1572962.
JD282847 - Sequence 263871 from Patent EP1572962.
JD301624 - Sequence 282648 from Patent EP1572962.
JD496106 - Sequence 477130 from Patent EP1572962.
JD533533 - Sequence 514557 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: H3BLZ3, H3BLZ3_HUMAN, NM_001161662, NP_001155134
UCSC ID: uc003lzv.3
RefSeq Accession: NM_001161662
Protein: H3BLZ3 CCDS: CCDS4366.1, CCDS54945.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001161662.1
exon count: 23CDS single in 3' UTR: no RNA size: 6750
ORF size: 3357CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6767.00frame shift in genome: no % Coverage: 99.79
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.