Grhl1 grainyhead like transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Grhl1provided by MGI
Official Full Name: grainyhead like transcription factor 1provided by MGI
Primary source: MGI:MGI:2182540
See related: Ensembl:ENSMUSG00000020656 AllianceGenome:MGI:2182540
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MGR; LBP-32; Tcfcp2l2
Summary: Enables transcription cis-regulatory region binding activity. Involved in epidermis development. Acts upstream of or within desmosome organization; establishment of skin barrier; and regulation of keratinocyte differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Orthologous to human GRHL1 (grainyhead like transcription factor 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 8.2), stomach adult (RPKM 3.1) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12; 12 A1.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (24622234..24667390)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (24572232..24617391)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Grainyhead 1 acts as a drug-inducible conserved transcriptional regulator linked to insulin signaling and lifespan.
Title: Grainyhead 1 acts as a drug-inducible conserved transcriptional regulator linked to insulin signaling and lifespan.
Grhl2 regulation of SPINT1 expression controls salivary gland development
Title: Grhl2 regulation of SPINT1 expression controls salivary gland development.
Significant changes in blood pressure were observed in mice lacking the GRHl1 gene following high and low sodium diet.
Title: Effects of high and low sodium diet on blood pressure and heart rate in mice lacking the functional grainyhead-like 1 gene.
No involvement of Grhl1 in blood pressure regulation, but Grhl1 expression influences the regulation of heart rate.
Title: Consequences of the loss of the Grainyhead-like 1 gene for renal gene expression, regulation of blood pressure and heart rate in a mouse model.
Loss of Grainy head-like 1 is associated with disruption of the epidermal barrier and squamous cell carcinoma of the skin.
Title: Loss of Grainy head-like 1 is associated with disruption of the epidermal barrier and squamous cell carcinoma of the skin.
Important regulator of the desmoglein 1 genes in the context of hair anchorage and epidermal differentiation.
Title: Perturbed desmosomal cadherin expression in grainy head-like 1-null mice.
Grhl genes are highly expressed in the developing epidermis.
Title: Spatial and temporal expression of the Grainyhead-like transcription factor family during murine development.
Grainyhead like 1 is a transcriptional regulator that may perform important functions in epithelial tissues of mammals and is epidermally expressed
Title: Identification and characterization of Grainyhead-like epithelial transactivator (GET-1), a novel mammalian Grainyhead-like factor.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Targeted (1) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

General gene information

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Markers

MARC_15737-15738:1017933538:1 (e-PCR)
- UniSTS:267888

Homology

Homologs of the Grhl1 gene: The Grhl1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 345 organisms have orthologs with human gene Grhl1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISA Inferred from Sequence Alignment more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISA Inferred from Sequence Alignment more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within desmosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermis development	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of skin barrier	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within regulation of keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: grainyhead-like protein 1 homolog

Names: grainyhead like 1; grainyhead-like 1; mammalian grainyhead; p61 MGR; p70 MGR; transcription factor CP2-like 2; transcription factor LBP-32

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001161406.1 → NP_001154878.1 grainyhead-like protein 1 homolog isoform 1

See identical proteins and their annotated locations for NP_001154878.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC125067, AK161048, DV553123

Consensus CDS

CCDS49038.1

UniProtKB/Swiss-Prot

Q8K5C1, Q921D9

Related

ENSMUSP00000082689.6, ENSMUST00000085553.13

Conserved Domains (1) summary

pfam04516
Location:235 → 440

CP2; CP2 transcription factor
NM_145890.2 → NP_665897.2 grainyhead-like protein 1 homolog isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform 92) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AC125067

Consensus CDS

CCDS36420.1

UniProtKB/TrEMBL

E9QMF0

Related

ENSMUSP00000020985.9, ENSMUST00000020985.9

Conserved Domains (1) summary

pfam04516
Location:153 → 358

CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

24622234..24667390

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006515016.5 → XP_006515079.1 grainyhead-like protein 1 homolog isoform X1

Conserved Domains (1) summary

pfam04516
Location:248 → 438

CP2; CP2 transcription factor
XM_030246622.2 → XP_030102482.1 grainyhead-like protein 1 homolog isoform X3

Conserved Domains (1) summary

pfam04516
Location:1 → 212

CP2; CP2 transcription factor
XM_030246623.2 → XP_030102483.1 grainyhead-like protein 1 homolog isoform X3

Conserved Domains (1) summary

pfam04516
Location:1 → 212

CP2; CP2 transcription factor
XM_006515017.4 → XP_006515080.1 grainyhead-like protein 1 homolog isoform X2

Conserved Domains (1) summary

pfam04516
Location:203 → 393

CP2; CP2 transcription factor