Human Gene GRHL1 (uc002raa.3)
  Description: Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.
RefSeq Summary (NM_198182): This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr2:10,091,792-10,142,412 Size: 50,621 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr2:10,091,963-10,140,835 Size: 48,873 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:10,091,792-10,142,412)mRNA (may differ from genome)Protein (618 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GRHL1_HUMAN
DESCRIPTION: RecName: Full=Grainyhead-like protein 1 homolog; AltName: Full=Mammalian grainyhead; AltName: Full=NH32; AltName: Full=Transcription factor CP2-like 2; AltName: Full=Transcription factor LBP-32;
FUNCTION: Transcription factor. Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed. May play a role in development. May be involved in epidermal differentiation (By similarity). Binds and transactivates the EN1 promoter.
SUBUNIT: Homodimer, also forms heterodimers with GRHL2 or GRHL3.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Highly expressed in placental JEG-3 cells and at very low levels in non-steroidogenic cells. No expression detected in adrenal NCI-H295A cells.
DEVELOPMENTAL STAGE: Expressed in fetal liver and brain.
SIMILARITY: Belongs to the grh/CP2 family. Grainyhead subfamily.

-  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): GRHL1
CDC HuGE Published Literature: GRHL1
Positive Disease Associations: Lipoproteins
Related Studies:
  1. Lipoproteins
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: GRHL1
Diseases sorted by gene-association score: deafness, autosomal dominant 28 (2)

-  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: 67.27 RPKM in Esophagus - Mucosa
Total median expression: 301.15 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 -76.70171-0.449 Picture PostScript Text
3' UTR -430.731577-0.273 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 Q9NZI5
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   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0002934 desmosome organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0008544 epidermis development
GO:0019216 regulation of lipid metabolic process
GO:0045616 regulation of keratinocyte differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0061436 establishment of skin barrier

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC063299 - Homo sapiens cDNA clone IMAGE:30345565, partial cds.
BC098456 - Homo sapiens grainyhead-like 1 (Drosophila), mRNA (cDNA clone IMAGE:30340418), with apparent retained intron.
AK312950 - Homo sapiens cDNA, FLJ93406, highly similar to Homo sapiens LBP protein 32 (LBP-32), mRNA.
AK293855 - Homo sapiens cDNA FLJ51493 complete cds, highly similar to Grainyhead-like protein 1.
AK296982 - Homo sapiens cDNA FLJ58376 complete cds, highly similar to Grainyhead-like protein 1.
AF198489 - Homo sapiens LBP-32 (LBP-32) mRNA, complete cds.
BC067519 - Homo sapiens grainyhead-like 1 (Drosophila), mRNA (cDNA clone MGC:79419 IMAGE:6971723), complete cds.
BC067520 - Homo sapiens grainyhead-like 1 (Drosophila), mRNA (cDNA clone MGC:79420 IMAGE:6971724), complete cds.
BC067521 - Homo sapiens grainyhead-like 1 (Drosophila), mRNA (cDNA clone MGC:79421 IMAGE:6971725), complete cds.
KJ898732 - Synthetic construct Homo sapiens clone ccsbBroadEn_08126 GRHL1 gene, encodes complete protein.
JD470566 - Sequence 451590 from Patent EP1572962.
AF411210 - Homo sapiens p49 MGR mRNA, complete cds.
JD338014 - Sequence 319038 from Patent EP1572962.
JD079174 - Sequence 60198 from Patent EP1572962.
JD540894 - Sequence 521918 from Patent EP1572962.
JD526894 - Sequence 507918 from Patent EP1572962.
JD188358 - Sequence 169382 from Patent EP1572962.
JD113194 - Sequence 94218 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NZI5 (Reactome details) participates in the following event(s):

R-HSA-1989781 PPARA activates gene expression
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLA4, B2R7E4, B5MEC2, GRHL1_HUMAN, LBP32, MGR, NM_198182, NP_937825, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33, Q9NZI5, TFCP2L2
UCSC ID: uc002raa.3
RefSeq Accession: NM_198182
Protein: Q9NZI5 (aka GRHL1_HUMAN)
CCDS: CCDS33144.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_198182.2
exon count: 16CDS single in 3' UTR: no RNA size: 3610
ORF size: 1857CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3914.00frame shift in genome: no % Coverage: 99.86
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.