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

    Gene ID: 29841, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See GRHL1 in Genome Data Viewer
    Location:
    2p25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (9951693..10002277)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (9979623..10030385)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10091822..10142405)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11144 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10057557-10058058 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10073172-10073377 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10078385-10078724 Neighboring gene uncharacterized LOC105373422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10080877-10081377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11149 Neighboring gene uncharacterized LOC124905970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:10151718-10152656 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:10152657-10153594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:10155429-10156119 Neighboring gene KLF11-I enhancer Neighboring gene uncharacterized LOC112268412 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:10170473-10170643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:10173619-10174119 Neighboring gene KLF11 promoter region Neighboring gene KLF11 divergent transcript

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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, 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 
    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
    part_of 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

    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)

    NEW Try the new Transcript table

    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
      A6NLA4, B2R7E4, B5MEC2, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33, Q9NZI5
      Related
      ENSP00000324693.9, ENST00000324907.14
      Conserved Domains (1) summary
      pfam04516
      Location:235440
      CP2; CP2 transcription factor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      9951693..10002277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711882.4XP_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_047444017.1XP_047299973.1  grainyhead-like protein 1 homolog isoform X3

      UniProtKB/TrEMBL
      B4DLG1
    3. XM_011510343.3XP_011508645.1  grainyhead-like protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      B4DLG1
      Conserved Domains (1) summary
      pfam04516
      Location:188395
      CP2; CP2 transcription factor
    4. XM_047444018.1XP_047299974.1  grainyhead-like protein 1 homolog isoform X5

    5. XM_017003900.2XP_016859389.1  grainyhead-like protein 1 homolog isoform X4

      UniProtKB/TrEMBL
      B4DLG1
    6. XM_047444019.1XP_047299975.1  grainyhead-like protein 1 homolog isoform X6

      Related
      ENSP00000384209.3, ENST00000405379.6

    RNA

    1. XR_001738726.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      9979623..10030385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341541.1XP_054197516.1  grainyhead-like protein 1 homolog isoform X1

    2. XM_054341543.1XP_054197518.1  grainyhead-like protein 1 homolog isoform X3

      UniProtKB/TrEMBL
      B4DLG1
    3. XM_054341542.1XP_054197517.1  grainyhead-like protein 1 homolog isoform X2

      UniProtKB/TrEMBL
      B4DLG1
    4. XM_054341545.1XP_054197520.1  grainyhead-like protein 1 homolog isoform X5

    5. XM_054341544.1XP_054197519.1  grainyhead-like protein 1 homolog isoform X4

      UniProtKB/TrEMBL
      B4DLG1
    6. XM_054341546.1XP_054197521.1  grainyhead-like protein 1 homolog isoform X6

    RNA

    1. XR_008486350.1 RNA Sequence