GRHL1 grainyhead like transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRHL1provided by HGNC
Official Full Name: grainyhead like transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:17923
See related: Ensembl:ENSG00000134317 MIM:609786; AllianceGenome:HGNC:17923
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGR; NH32; LBP32; TFCP2L2
Summary: 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]
Expression: Biased expression in esophagus (RPKM 42.3), skin (RPKM 29.2) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p25.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (9951693..10002277)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (9979623..10030385)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (10091822..10142405)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vitamin D Receptor Regulates the Expression of the Grainyhead-Like 1 Gene.
Title: Vitamin D Receptor Regulates the Expression of the Grainyhead-Like 1 Gene.
Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks.
Title: Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks.
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.
Structural basis of DNA target-site recognition by grainyhead-like 1.
Title: Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family.
Non-melanoma skin cancer growth is accompanied by coordinated reduced expression of epidermal differentiation genes: GRHL1 and GRHL3, which may be regulated by miR-21-3p and -5p, respectively. Some potentially damaging single nucleotide polymorphisms in GRHL genes occur with altered frequencies in NMSC patients, and they may in particular impair the expression of GRHL3 gene or functioning of encoded protein
Title: Coordinated expression and genetic polymorphisms in Grainyhead-like genes in human non-melanoma skin cancers.
All of these processes involve epithelial-mesencyhmal transition (EMT), MET or a sequence of both, suggesting that the GRHL factors((GRHL1, GRHL2 and GRHL3), could potentially affect tumor initiation and progression via EMT
Title: Roles of Grainyhead-like transcription factors in cancer.
it was observed that ER stimulated gene expression by interacting with MEIS1 and FOXP3, and ER inhibited gene expression by interacting with THRB and GRHL1.
Title: Role of estrogen receptor in breast cancer cell gene expression.
Grhl1 deficiency affects inner ear development in zebrafish.
Title: Grhl1 deficiency affects inner ear development in zebrafish.
GRHL1, GRHL2, and GRHL3 have roles in cellular proliferation, differentiation, adhesion, and polarity and may promote cancer or be tumor suppressors [review]
Title: Recent discoveries concerning the involvement of transcription factors from the Grainyhead-like family in cancer.
Downregulation of miR122 by grainyhead-like 2 restricts the hepatocytic differentiation potential of adult liver progenitor cells.
Title: Downregulation of miR122 by grainyhead-like 2 restricts the hepatocytic differentiation potential of adult liver progenitor cells.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-143472 (e-PCR)
- UniSTS:174085

WI-11185 (e-PCR)
- UniSTS:80678

SHGC-83141 (e-PCR)
- UniSTS:96038

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

WI-16721 (e-PCR)
- UniSTS:78000

RH16450 (e-PCR)
- UniSTS:36541

KS608 (e-PCR)
- UniSTS:253179

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: grainyhead-like protein 1 homolog

Names: LBP protein 32; grainyhead-like 1; mammalian grainyhead; 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_198182.3 → NP_937825.2 grainyhead-like protein 1 homolog

See identical proteins and their annotated locations for NP_937825.2

Status: REVIEWED

Source sequence(s)

AA234992, AC010969, AK312950

Consensus CDS

CCDS33144.2

UniProtKB/Swiss-Prot

A6NLA4, B2R7E4, B5MEC2, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33, Q9NZI5

Related

ENSP00000324693.9, ENST00000324907.14

Conserved Domains (1) summary

pfam04516
Location:235 → 440

CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

9951693..10002277

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006711882.4 → XP_006711945.1 grainyhead-like protein 1 homolog isoform X1

Related

ENSP00000418275.1, ENST00000472167.5

Conserved Domains (1) summary

pfam04516
Location:235 → 442

CP2; CP2 transcription factor
XM_047444017.1 → XP_047299973.1 grainyhead-like protein 1 homolog isoform X3
XM_011510343.3 → XP_011508645.1 grainyhead-like protein 1 homolog isoform X2

UniProtKB/TrEMBL

B4DLG1

Conserved Domains (1) summary

pfam04516
Location:188 → 395

CP2; CP2 transcription factor
XM_047444018.1 → XP_047299974.1 grainyhead-like protein 1 homolog isoform X5
XM_017003900.2 → XP_016859389.1 grainyhead-like protein 1 homolog isoform X4

UniProtKB/TrEMBL

B4DLG1
XM_047444019.1 → XP_047299975.1 grainyhead-like protein 1 homolog isoform X6

Related

ENSP00000384209.3, ENST00000405379.6