GRHL1 - grainyhead like transcription factor 1 Gene

Homo sapiens

Also known as MGR; NH32; LBP32; TFCP2L2

Gene ID: 29841 | Gene type: protein coding

About GRHL1

Cytogenetic location: 2p25.1 Genomic coordinates (GRCh38): 2:9,951,693-10,002,277 (from NCBI)

This gene has 8 transcripts (splice variants), 234 orthologues and 5 paralogues. Biased expression in esophagus (RPKM 42.3), skin (RPKM 29.2) and 4 other tissues.

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]

GRHL1 Products(1)

mRNA	Protein	Name
NM_198182.3	NP_937825.2	grainyhead-like protein 1 homolog

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	12175488	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12175488	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	29309642	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	12175488	GOA
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	35013237	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	12175488	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	21081122	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	12175488	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12175488	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	29309642	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18288204	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	18288204	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12175488	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	29309642	GOA
acts upstream of or within regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12175488	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	18288204	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GRHL1 Protein Structure

CP2

0
100
200
300
400
500
618 a.a.

Protein Preferred Names

Protein Names

grainyhead-like protein 1 homolog

LBP protein 32

GRHL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Pull Down	12175488
Intra	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Y2H	12175488
Intra	GRHL1	Q9NZI5	GRHL2	Homo sapiens	Q6ISB3	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	BEND3	Homo sapiens	Q5T5X7	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	BLM	Homo sapiens	P54132	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	BAZ1A	Homo sapiens	Q9NRL2	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	GRHL1	Homo sapiens	Q9NZI5	Y2H	12175488
Intra	GRHL1	Q9NZI5	GRHL1	Homo sapiens	Q9NZI5	Pull Down	12175488
Intra	GRHL1	Q9NZI5	APTX	Homo sapiens	Q7Z2E3	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	ACTBL2	Homo sapiens	Q562R1	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	ANKRD17	Homo sapiens	O75179	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	ADAR	Homo sapiens	P55265	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	ASH2L	Homo sapiens	Q9UBL3	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	BANF1	Homo sapiens	O75531	Anti Tag CoIP	35013237
Intra	GRHL1	Q9NZI5	ARID3B	Homo sapiens	Q8IVW6	Anti Tag CoIP	35013237

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Deafness, Autosomal Dominant 28

DFNA28	Autosomal Dominant Nonsyndromic Deafness 28
Autosomal Dominant Deafness 28	Deafness, Autosomal Dominant, 28
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 28	Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 28
Deafness, Autosomal Dominant, Type 28

Maxillary Cancer

Maxillary Neoplasm	Maxillary Neoplasms
Upper Jaw Bone Cancer

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Jaw Cancer

Jaw Neoplasms	Jaw Neoplasm
Neoplasm Of Jaw	Cancer Of Jaw

Van Der Woude Syndrome

Lip-Pit Syndrome	Vws
Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip	Vdws
Lps	Lip Pit Syndrome
Cleft Lip/Palate With Mucous Cysts Of Lower Lip	Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05787	GRHL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GRHL1	RGD	RGD:1305735
Mus musculus	GRHL1	MGD	MGI:2182540
Canis familiaris	GRHL1	VGNC	VGNC:41476
Macaca mulatta	GRHL1	VGNC	VGNC:73188
Felis catus	GRHL1	VGNC	VGNC:62709
Bos taurus	GRHL1	VGNC	VGNC:29634

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