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

Gene ID: 29841, updated on 8-Jul-2021

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
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
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Genomic context

See GRHL1 in Genome Data Viewer
Location:
2p25.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (9951693..10002279)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10091822..10142405)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit B Neighboring gene uncharacterized LOC105373422 Neighboring gene uncharacterized LOC107985852 Neighboring gene uncharacterized LOC112268412

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
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
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

  1. NM_198182.3NP_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
    Q9NZI5
    Related
    ENSP00000324693.9, ENST00000324907.14
    Conserved Domains (1) summary
    pfam04516
    Location:235440
    CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    9951693..10002279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711882.3XP_006711945.1  grainyhead-like protein 1 homolog isoform X1

    Related
    ENSP00000418275.1, ENST00000472167.5
    Conserved Domains (1) summary
    pfam04516
    Location:235442
    CP2; CP2 transcription factor
  2. XM_017003900.1XP_016859389.1  grainyhead-like protein 1 homolog isoform X3

  3. XM_017003901.1XP_016859390.1  grainyhead-like protein 1 homolog isoform X4

  4. XM_005246159.4XP_005246216.1  grainyhead-like protein 1 homolog isoform X6

    See identical proteins and their annotated locations for XP_005246216.1

    UniProtKB/Swiss-Prot
    Q9NZI5
    Related
    ENSP00000384209.3, ENST00000405379.6
    Conserved Domains (1) summary
    pfam04516
    Location:62251
    CP2; CP2 transcription factor
  5. XM_006711884.4XP_006711947.1  grainyhead-like protein 1 homolog isoform X5

    Conserved Domains (1) summary
    pfam04516
    Location:62253
    CP2; CP2 transcription factor
  6. XM_011510343.2XP_011508645.1  grainyhead-like protein 1 homolog isoform X2

    Conserved Domains (1) summary
    pfam04516
    Location:188395
    CP2; CP2 transcription factor

RNA

  1. XR_001738726.2 RNA Sequence

  2. XR_001738727.2 RNA Sequence

  3. XR_001738728.2 RNA Sequence

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