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Aliases for GRHL1 Gene

Aliases for GRHL1 Gene

  • Grainyhead Like Transcription Factor 1 2 3 5
  • Transcription Factor CP2-Like 2 2 3 4
  • Transcription Factor LBP-32 3 4
  • Mammalian Grainyhead 3 4
  • TFCP2L2 3 4
  • LBP32 3 4
  • NH32 3 4
  • MGR 3 4
  • Grainyhead-Like Protein 1 Homolog 3
  • Grainyhead-Like 1 (Drosophila) 2
  • Grainyhead-Like 1 3
  • LBP Protein 32 3

External Ids for GRHL1 Gene

Previous HGNC Symbols for GRHL1 Gene

  • TFCP2L2

Previous GeneCards Identifiers for GRHL1 Gene

  • GC02P010043
  • GC02P010085

Summaries for GRHL1 Gene

Entrez Gene Summary for GRHL1 Gene

  • 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]

GeneCards Summary for GRHL1 Gene

GRHL1 (Grainyhead Like Transcription Factor 1) is a Protein Coding gene. Diseases associated with GRHL1 include Deafness, Autosomal Dominant 28. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is GRHL2.

UniProtKB/Swiss-Prot for GRHL1 Gene

  • Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5-AACCGGTT-3 (PubMed:12175488, PubMed:18288204). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed (PubMed:12175488).

Additional gene information for GRHL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GRHL1 Gene

Genomics for GRHL1 Gene

Regulatory Elements for GRHL1 Gene

Enhancers for GRHL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H009971 0.8 ENCODE dbSUPER 27 +21.3 21272 1 ZFHX2 SP3 KLF1 EGR1 IKZF1 SCRT2 EGR2 GRHL1 ENSG00000188525 CYS1 ENSG00000233502 PIR60135
GH02H009950 1.3 ENCODE dbSUPER 16.3 +0.5 484 2 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF766 GLIS2 ELK1 ZNF143 MXD4 GRHL1 PIR60135
GH02H009974 1.4 Ensembl ENCODE dbSUPER 12.4 +24.0 23970 1 NFIB INSM2 ZEB1 EGR1 ZNF366 ZSCAN5C RCOR1 FOS EGR2 ZNF362 GRHL1 ENSG00000233502 PIR60135
GH02H009984 1.3 Ensembl ENCODE dbSUPER 10 +33.4 33373 1 BCOR CTCF PKNOX1 RAD21 FOSL1 CC2D1A ZNF316 ADNP HNF4G SMC3 GRHL1 PIR60135
GH02H009975 0.5 ENCODE dbSUPER 22.2 +22.9 22885 0 GRHL1 ENSG00000188525 ENSG00000233502 PIR60135
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GRHL1 on UCSC Golden Path with GeneCards custom track

Promoters for GRHL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000112680 -63 1601 ARID4B SIN3A DMAP1 ZNF766 GLIS2 ELK1 ZNF143 MXD4 NFYC REST

Genomic Location for GRHL1 Gene

Chromosome:
2
Start:
9,951,663 bp from pter
End:
10,002,284 bp from pter
Size:
50,622 bases
Orientation:
Plus strand

Genomic View for GRHL1 Gene

Genes around GRHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GRHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GRHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRHL1 Gene

Proteins for GRHL1 Gene

  • Protein details for GRHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZI5-GRHL1_HUMAN
    Recommended name:
    Grainyhead-like protein 1 homolog
    Protein Accession:
    Q9NZI5
    Secondary Accessions:
    • A6NLA4
    • B2R7E4
    • B5MEC2
    • Q53T93
    • Q6NWN7
    • Q6NWN8
    • Q6NWN9
    • Q8NI33

    Protein attributes for GRHL1 Gene

    Size:
    618 amino acids
    Molecular mass:
    70113 Da
    Quaternary structure:
    • Homodimer, also forms heterodimers with GRHL2 or GRHL3.
    Miscellaneous:
    • GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.

    Alternative splice isoforms for GRHL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GRHL1 Gene

Post-translational modifications for GRHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for GRHL1

No data available for DME Specific Peptides for GRHL1 Gene

Domains & Families for GRHL1 Gene

Gene Families for GRHL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for GRHL1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GRHL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZI5

UniProtKB/Swiss-Prot:

GRHL1_HUMAN :
  • Belongs to the grh/CP2 family. Grainyhead subfamily.
Family:
  • Belongs to the grh/CP2 family. Grainyhead subfamily.
genes like me logo Genes that share domains with GRHL1: view

Function for GRHL1 Gene

Molecular function for GRHL1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5-AACCGGTT-3 (PubMed:12175488, PubMed:18288204). Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity). Isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed (PubMed:12175488).

Phenotypes From GWAS Catalog for GRHL1 Gene

Gene Ontology (GO) - Molecular Function for GRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12175488
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12175488
GO:0003677 DNA binding IEA --
GO:0031490 chromatin DNA binding IDA 21081122
GO:0043565 sequence-specific DNA binding IDA 18288204
genes like me logo Genes that share ontologies with GRHL1: view
genes like me logo Genes that share phenotypes with GRHL1: view

Animal Models for GRHL1 Gene

MGI Knock Outs for GRHL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GRHL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GRHL1 Gene

Localization for GRHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRHL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GRHL1 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
extracellular 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleus (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 18288204
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GRHL1: view

Pathways & Interactions for GRHL1 Gene

genes like me logo Genes that share pathways with GRHL1: view

Gene Ontology (GO) - Biological Process for GRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with GRHL1: view

No data available for SIGNOR curated interactions for GRHL1 Gene

Drugs & Compounds for GRHL1 Gene

No Compound Related Data Available

Transcripts for GRHL1 Gene

Unigene Clusters for GRHL1 Gene

Grainyhead-like 1 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GRHL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GRHL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ·
SP1: - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7:

ExUns: 17c · 17d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for GRHL1 Gene

GeneLoc Exon Structure for
GRHL1
ECgene alternative splicing isoforms for
GRHL1

Expression for GRHL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GRHL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GRHL1 Gene

This gene is overexpressed in Esophagus - Mucosa (x12.4), Skin - Not Sun Exposed (Suprapubic) (x7.6), Skin - Sun Exposed (Lower leg) (x7.0), Vagina (x6.0), and Minor Salivary Gland (x4.6).

Protein differential expression in normal tissues from HIPED for GRHL1 Gene

This gene is overexpressed in Plasma (58.9) and Placenta (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GRHL1 Gene



Protein tissue co-expression partners for GRHL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GRHL1 Gene:

GRHL1

SOURCE GeneReport for Unigene cluster for GRHL1 Gene:

Hs.418493

mRNA Expression by UniProt/SwissProt for GRHL1 Gene:

Q9NZI5-GRHL1_HUMAN
Tissue specificity: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells.

Evidence on tissue expression from TISSUES for GRHL1 Gene

  • Nervous system(4)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with GRHL1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GRHL1 Gene

Orthologs for GRHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GRHL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GRHL1 33 34
  • 99.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GRHL1 34
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRHL1 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRHL1 33 34
  • 91.64 (n)
rat
(Rattus norvegicus)
Mammalia Grhl1 33
  • 88.46 (n)
cow
(Bos Taurus)
Mammalia GRHL1 33 34
  • 88.33 (n)
mouse
(Mus musculus)
Mammalia Grhl1 33 16 34
  • 88.08 (n)
chicken
(Gallus gallus)
Aves GRHL1 33 34
  • 80.29 (n)
lizard
(Anolis carolinensis)
Reptilia GRHL1 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia grhl1 33
  • 75.11 (n)
Str.17745 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.25460 33
zebrafish
(Danio rerio)
Actinopterygii grhl1 33 34
  • 69.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta grh 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grh-1 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for GRHL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GRHL1 Gene

ENSEMBL:
Gene Tree for GRHL1 (if available)
TreeFam:
Gene Tree for GRHL1 (if available)

Paralogs for GRHL1 Gene

Paralogs for GRHL1 Gene

(3) SIMAP similar genes for GRHL1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GRHL1: view

Variants for GRHL1 Gene

Sequence variations from dbSNP and Humsavar for GRHL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000099446 -- 9,952,230(+) CCTCT(C/G)CTGCC intron-variant, upstream-variant-2KB
rs1000140120 -- 9,954,602(+) TTGTT(C/T)ATGGA intron-variant
rs1000232093 -- 9,973,871(+) CTACT(C/G)TCTCA intron-variant
rs1000249529 -- 9,980,531(+) ATCTT(G/T)TAGAG intron-variant
rs1000353356 -- 9,990,399(+) ACCCA(C/T)CTCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GRHL1 Gene

Variant ID Type Subtype PubMed ID
esv1497328 CNV insertion 17803354
nsv1071972 CNV deletion 25765185
nsv1126540 CNV deletion 24896259
nsv1138748 CNV deletion 24896259
nsv213438 CNV insertion 16902084
nsv828297 CNV loss 20364138

Variation tolerance for GRHL1 Gene

Residual Variation Intolerance Score: 15.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.11; 84.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GRHL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GRHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRHL1 Gene

Disorders for GRHL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GRHL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 28
  • autosomal dominant nonsyndromic deafness 28
- elite association - COSMIC cancer census association via MalaCards
Search GRHL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GRHL1

Genetic Association Database (GAD)
GRHL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GRHL1
genes like me logo Genes that share disorders with GRHL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GRHL1 Gene

Publications for GRHL1 Gene

  1. A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead. (PMID: 12175488) Wilanowski T … Jane SM (Mechanisms of development 2002) 2 3 4 60
  2. Cloning of factors related to HIV-inducible LBP proteins that regulate steroidogenic factor-1-independent human placental transcription of the cholesterol side-chain cleavage enzyme, P450scc. (PMID: 10644752) Huang N … Miller WL (The Journal of biological chemistry 2000) 2 3 4 60
  3. Perturbed desmosomal cadherin expression in grainy head-like 1-null mice. (PMID: 18288204) Wilanowski T … Jane SM (The EMBO journal 2008) 3 4 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for GRHL1 Gene

Sources for GRHL1 Gene

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