Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GRHL1 Gene

Aliases for GRHL1 Gene

  • Grainyhead-Like 1 (Drosophila) 2 3
  • Transcription Factor CP2-Like 2 2 3 4
  • LBP32 3 4 6
  • MGR 3 4 6
  • Transcription Factor LBP-32 3 4
  • Mammalian Grainyhead 3 4
  • TFCP2L2 3 4
  • NH32 3 4
  • Grainyhead-Like Protein 1 Homolog 3
  • LBP Protein 32 3

External Ids for GRHL1 Gene

Previous Symbols for GRHL1 Gene

  • TFCP2L2

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 1 (Drosophila)) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. An important paralog of this gene is UBP1.

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).

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

Genomics for GRHL1 Gene

Genomic Location for GRHL1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GRHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GRHL1 Gene

Regulatory Elements 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

Proteomics data for GRHL1 Gene at MOPED

Post-translational modifications for GRHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GRHL1 Gene

No data available for DME Specific Peptides for GRHL1 Gene

Domains for GRHL1 Gene

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
Family:
  • Belongs to the grh/CP2 family. Grainyhead subfamily.:
    • Q9NZI5
genes like me logo Genes that share domains with GRHL1: view

No data available for Gene Families for GRHL1 Gene

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).

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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 12175488
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IBA --
GO:0031490 chromatin DNA binding IDA 21081122
genes like me logo Genes that share ontologies with GRHL1: view
genes like me logo Genes that share phenotypes with GRHL1: view

miRNA for GRHL1 Gene

miRTarBase miRNAs that target GRHL1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GRHL1 Gene

Localization for GRHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GRHL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GRHL1 Gene COMPARTMENTS Subcellular localization image for GRHL1 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3
extracellular 2
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GRHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GRHL1: view

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0007275 multicellular organismal development IEA --
GO:0008544 epidermis development ISS --
genes like me logo Genes that share ontologies with GRHL1: view

Transcripts for GRHL1 Gene

Unigene Clusters for GRHL1 Gene

Grainyhead-like 1 (Drosophila):
Representative Sequences:

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 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 (12.4), Skin - Not Sun Exposed (Suprapubic) (7.6), Skin - Sun Exposed (Lower leg) (7.0), Vagina (6.0), and Minor Salivary Gland (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GRHL1 Gene

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.
genes like me logo Genes that share expressions with GRHL1: view

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 35
  • 99.46 (n)
  • 99.51 (a)
GRHL1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GRHL1 35
  • 88.33 (n)
  • 93.68 (a)
GRHL1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GRHL1 35
  • 91.64 (n)
  • 96.42 (a)
GRHL1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Grhl1 35
  • 88.08 (n)
  • 94.66 (a)
Grhl1 16
Grhl1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GRHL1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GRHL1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Grhl1 35
  • 88.46 (n)
  • 94.5 (a)
chicken
(Gallus gallus)
Aves GRHL1 35
  • 80.29 (n)
  • 91.23 (a)
GRHL1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GRHL1 36
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25460 35
tropical clawed frog
(Silurana tropicalis)
Amphibia grhl1 35
  • 75.11 (n)
  • 82.52 (a)
Str.17745 35
zebrafish
(Danio rerio)
Actinopterygii grhl1 35
  • 69.57 (n)
  • 72.99 (a)
grhl1 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta grh 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea grh-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for GRHL1:
  • 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

Selected 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 MAF
rs11246 -- 10,002,174(-) AAATA(C/T)AAAAG utr-variant-3-prime
rs730922 -- 9,984,874(+) CTGGG(C/T)AACAT intron-variant
rs731169 -- 9,969,152(+) CAGCA(C/T)TGAGA intron-variant
rs731453 -- 9,984,528(-) GGAAG(A/C)TGCTA intron-variant
rs744033 -- 9,984,331(-) AGACC(C/G)TTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv828297 CNV Loss 20364138
nsv213438 CNV Insertion 16902084
esv1497328 CNV Insertion 17803354

Relevant External Links for GRHL1 Gene

HapMap Linkage Disequilibrium report
GRHL1

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

Disorders for GRHL1 Gene

Relevant External Links for GRHL1

Genetic Association Database (GAD)
GRHL1
genes like me logo Genes that share disorders with GRHL1: view

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

Publications for GRHL1 Gene

  1. 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 W.L. (J. Biol. Chem. 2000) 2 3 4
  2. A highly conserved novel family of mammalian developmental transcription factors related to Drosophila grainyhead. (PMID: 12175488) Wilanowski T. … Jane S.M. (Mech. Dev. 2002) 3 4
  3. Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28. (PMID: 12393799) Peters L.M. … Morell R.J. (Hum. Mol. Genet. 2002) 2 3
  4. The identification and characterization of human sister-of-mammalian grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors. (PMID: 12549979) Ting S.B. … Jane S.M. (Biochem. J. 2003) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GRHL1 Gene

Sources for GRHL1 Gene

Back to Top

Content