Human Gene GRHL3 (uc021oiw.1) Description and Page Index
  Description: Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.
RefSeq Summary (NM_198174): This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010].
Transcript (Including UTRs)
   Position: hg19 chr1:24,645,812-24,690,970 Size: 45,159 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr1:24,646,042-24,690,861 Size: 44,820 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:24,645,812-24,690,970)mRNA (may differ from genome)Protein (626 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: GRHL3_HUMAN
DESCRIPTION: RecName: Full=Grainyhead-like protein 3 homolog; AltName: Full=Sister of mammalian grainyhead; AltName: Full=Transcription factor CP2-like 4;
FUNCTION: May function as a transcription factor.
SUBUNIT: Homodimer, also forms heterodimers with GRHL1 and GRHL2.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific.
SIMILARITY: Belongs to the grh/CP2 family. Grainyhead subfamily.

-  MalaCards Disease Associations
  MalaCards Gene Search: GRHL3
Diseases sorted by gene-association score: van der woude syndrome 2* (1330), van der woude syndrome* (230), cleft soft palate* (25), submucosal cleft palate* (18), cleft hard palate* (18), bifid uvula* (18), popliteal pterygium syndrome 1 (10), cocoon syndrome (9), branchiooculofacial syndrome (9), cleft lip (8), cleft palate, isolated (2)
* = Manually curated disease association

-  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: 60.74 RPKM in Esophagus - Mucosa
Total median expression: 160.08 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.34230-0.315 Picture PostScript Text
3' UTR -31.60109-0.290 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
IPR007604 - CP2

Pfam Domains:
PF04516 - CP2 transcription factor

ModBase Predicted Comparative 3D Structure on Q8TE85
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0031490 chromatin DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001736 establishment of planar polarity
GO:0001843 neural tube closure
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007389 pattern specification process
GO:0007398 ectoderm development
GO:0007417 central nervous system development
GO:0008544 epidermis development
GO:0010628 positive regulation of gene expression
GO:0032956 regulation of actin cytoskeleton organization
GO:0042060 wound healing
GO:0043547 positive regulation of GTPase activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0061029 eyelid development in camera-type eye
GO:0061436 establishment of skin barrier
GO:0090103 cochlea morphogenesis
GO:0090179 planar cell polarity pathway involved in neural tube closure

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AK074386 - Homo sapiens cDNA FLJ23806 fis, clone HRC03576.
AK315164 - Homo sapiens cDNA, FLJ96138, highly similar to Homo sapiens sister-of-mammalian grainyhead (SOM), mRNA.
BC036890 - Homo sapiens grainyhead-like 3 (Drosophila), mRNA (cDNA clone MGC:46624 IMAGE:5502632), complete cds.
AY231160 - Homo sapiens sister-of-mammalian grainyhead isoform 1 (SOM) mRNA, complete cds.
AY231161 - Homo sapiens sister-of-mammalian grainyhead isoform 3 (SOM) mRNA, complete sequence.
JD122254 - Sequence 103278 from Patent EP1572962.
JD156764 - Sequence 137788 from Patent EP1572962.
EU446877 - Synthetic construct Homo sapiens clone IMAGE:100070287; IMAGE:100012086; FLH257226.01L grainyhead-like 3 (Drosophila) (GRHL3) gene, encodes complete protein.
KJ900818 - Synthetic construct Homo sapiens clone ccsbBroadEn_10212 GRHL3 gene, encodes complete protein.
AL137763 - Novel human gene mapping to chomosome 1.

-  Other Names for This Gene
  Alternate Gene Symbols: GRHL3_HUMAN, NM_198174, NP_937817, Q5TH78, Q86Y06, Q8N407, Q8TE85, SOM, TFCP2L4
UCSC ID: uc021oiw.1
RefSeq Accession: NM_198174
Protein: Q8TE85 (aka GRHL3_HUMAN)
CCDS: CCDS252.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198174.2
exon count: 16CDS single in 3' UTR: no RNA size: 2232
ORF size: 1881CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3862.00frame shift in genome: no % Coverage: 99.46
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.