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Entry version 137 (16 Oct 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Grainyhead-like protein 3 homolog

Gene

GRHL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor playing important roles in primary neurulation and in the differentiation of stratified epithelia of both ectodermal and endodermal origin (By similarity). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:21081122, PubMed:25347468). xhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair (By similarity). Exhibits functional redundancy with GRHL2 in epidermal morphogenetic events and epidermal wound repair but is essential to form the epidermal barrier with TGM3 as critical direct target gene among others. Despite being dispensable during normal epidermal homeostasis in the adulthood, is again required for barrier repair after immune-mediated epidermal damage, regulates distinct gene batteries in embryonic epidermal differentiation and adult epidermal barrier reformation after injury. Plays unique and cooperative roles with GRHL2 in establishing distinct zones of primary neurulation. Essential for spinal closure, functions cooperatively with GRHL2 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (By similarity). Also required for proper development of the oral periderm (PubMed:24360809). No genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity (PubMed:21081122).By similarity4 Publications

Miscellaneous

GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxical lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related, but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Grainyhead-like protein 3 homologImported
Alternative name(s):
Sister of mammalian grainyhead
Transcription factor CP2-like 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GRHL3Imported
Synonyms:SOM, TFCP2L4Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:25839 GRHL3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608317 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TE85

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Van der Woude syndrome 2 (VWS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072616298R → H in VWS2. 1 PublicationCorresponds to variant dbSNP:rs752673677EnsemblClinVar.1
Natural variantiVAR_072617391R → C in VWS2. 1 PublicationCorresponds to variant dbSNP:rs879255245EnsemblClinVar.1
Natural variantiVAR_072618520R → Q in VWS2. 1 PublicationCorresponds to variant dbSNP:rs946439477Ensembl.1

Organism-specific databases

DisGeNET

More...
DisGeNETi
57822

MalaCards human disease database

More...
MalaCardsi
GRHL3
MIMi606713 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000158055

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99771 Bifid uvula
101023 Cleft hard palate
99772 Cleft velum
155878 Submucosal cleft palate
888 Van der Woude syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134987320

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TE85

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GRHL3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242504

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002279971 – 626Grainyhead-like protein 3 homologAdd BLAST626

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TE85

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8TE85

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TE85

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TE85

PeptideAtlas

More...
PeptideAtlasi
Q8TE85

PRoteomics IDEntifications database

More...
PRIDEi
Q8TE85

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
182
33731
74420 [Q8TE85-1]
74421 [Q8TE85-2]
74422 [Q8TE85-3]
74423 [Q8TE85-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TE85

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8TE85

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain, colon, pancreas, placenta and kidney. Isoform 1 is expressed in lung and tonsil. Isoform 2 is prostate-specific.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000158055 Expressed in 94 organ(s), highest expression level in ectocervix

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TE85 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TE85 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA059960

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer, also forms heterodimers with GRHL1 and GRHL2 (PubMed:12549979).

Interacts with LMO4 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121781, 7 interactors

Protein interaction database and analysis system

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IntActi
Q8TE85, 7 interactors

Molecular INTeraction database

More...
MINTi
Q8TE85

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000288955

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8TE85

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni30 – 95Transcription activation1 PublicationAdd BLAST66

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the grh/CP2 family. Grainyhead subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4091 Eukaryota
ENOG410XNZ6 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157970

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000220859

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TE85

KEGG Orthology (KO)

More...
KOi
K09275

Identification of Orthologs from Complete Genome Data

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OMAi
MAVFEND

Database of Orthologous Groups

More...
OrthoDBi
286319at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TE85

TreeFam database of animal gene trees

More...
TreeFami
TF314132

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007604 CP2
IPR040167 TF_CP2-like

The PANTHER Classification System

More...
PANTHERi
PTHR11037 PTHR11037, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04516 CP2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TE85-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSNELDFRSV RLLKNDPVNL QKFSYTSEDE AWKTYLENPL TAATKAMMRV
60 70 80 90 100
NGDDDSVAAL SFLYDYYMGP KEKRILSSST GGRNDQGKRY YHGMEYETDL
110 120 130 140 150
TPLESPTHLM KFLTENVSGT PEYPDLLKKN NLMSLEGALP TPGKAAPLPA
160 170 180 190 200
GPSKLEAGSV DSYLLPTTDM YDNGSLNSLF ESIHGVPPTQ RWQPDSTFKD
210 220 230 240 250
DPQESMLFPD ILKTSPEPPC PEDYPSLKSD FEYTLGSPKA IHIKSGESPM
260 270 280 290 300
AYLNKGQFYP VTLRTPAGGK GLALSSNKVK SVVMVVFDNE KVPVEQLRFW
310 320 330 340 350
KHWHSRQPTA KQRVIDVADC KENFNTVEHI EEVAYNALSF VWNVNEEAKV
360 370 380 390 400
FIGVNCLSTD FSSQKGVKGV PLNLQIDTYD CGLGTERLVH RAVCQIKIFC
410 420 430 440 450
DKGAERKMRD DERKQFRRKV KCPDSSNSGV KGCLLSGFRG NETTYLRPET
460 470 480 490 500
DLETPPVLFI PNVHFSSLQR SGGAAPSAGP SSSNRLPLKR TCSPFTEEFE
510 520 530 540 550
PLPSKQAKEG DLQRVLLYVR RETEEVFDAL MLKTPDLKGL RNAISEKYGF
560 570 580 590 600
PEENIYKVYK KCKRGETSLL HPRLSRHPPP DCLECSHPVT QVRNMGFGDG
610 620
FWRQRDLDSN PSPTTVNSLH FTVNSE
Length:626
Mass (Da):70,345
Last modified:October 17, 2006 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i225C0E2049FF0CE6
GO
Isoform 2 (identifier: Q8TE85-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-6: MSNELD → MWMNSILPIFL
     566-626: ETSLLHPRLS...NSLHFTVNSE → ILVNMDNNII...GKIQIILKEL

Show »
Length:607
Mass (Da):68,353
Checksum:iD750D50275F999B2
GO
Isoform 3 (identifier: Q8TE85-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
     566-626: ETSLLHPRLS...NSLHFTVNSE → ILVNMDNNII...GKIQIILKEL

Note: No experimental confirmation available.
Show »
Length:556
Mass (Da):62,378
Checksum:i6D343D56FA89947C
GO
Isoform 4 (identifier: Q8TE85-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-93: Missing.
     566-626: ETSLLHPRLS...NSLHFTVNSE → ILVNMDNNII...GKIQIILKEL

Show »
Length:509
Mass (Da):57,045
Checksum:iECE5E4685D8B223D
GO
Isoform 5 (identifier: Q8TE85-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     566-626: ETSLLHPRLS...NSLHFTVNSE → ILVNMDNNII...GKIQIILKEL

Note: No experimental confirmation available.
Show »
Length:602
Mass (Da):67,696
Checksum:i036BE44B3F448A93
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLT6E9PLT6_HUMAN
Grainyhead-like protein 3 homolog
GRHL3
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PLG9E9PLG9_HUMAN
Grainyhead-like protein 3 homolog
GRHL3
52Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH36890 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAG37608 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti20L → S in BAB85067 (PubMed:14702039).Curated1
Sequence conflicti396I → V in BAG37608 (PubMed:14702039).Curated1
Sequence conflicti533K → R in BAB85067 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02790755D → E. Corresponds to variant dbSNP:rs2486668Ensembl.1
Natural variantiVAR_055881160V → A. Corresponds to variant dbSNP:rs34637004EnsemblClinVar.1
Natural variantiVAR_072616298R → H in VWS2. 1 PublicationCorresponds to variant dbSNP:rs752673677EnsemblClinVar.1
Natural variantiVAR_072617391R → C in VWS2. 1 PublicationCorresponds to variant dbSNP:rs879255245EnsemblClinVar.1
Natural variantiVAR_072618520R → Q in VWS2. 1 PublicationCorresponds to variant dbSNP:rs946439477Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0176431 – 93Missing in isoform 4. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_0176441 – 46Missing in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_0176451 – 6MSNELD → MWMNSILPIFL in isoform 2. 1 Publication6
Alternative sequenceiVSP_017646566 – 626ETSLL…TVNSE → ILVNMDNNIIQHYSNHVAFL LDMGELDGKIQIILKEL in isoform 2, isoform 3, isoform 4 and isoform 5. 3 PublicationsAdd BLAST61

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY231160 mRNA Translation: AAO67370.1
AY231161 mRNA No translation available.
AK074386 mRNA Translation: BAB85067.1
AK315164 mRNA Translation: BAG37608.1 Different initiation.
AL031431 Genomic DNA No translation available.
AL138902 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW95121.1
BC036890 mRNA Translation: AAH36890.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS251.1 [Q8TE85-2]
CCDS252.2 [Q8TE85-1]
CCDS44088.1 [Q8TE85-5]
CCDS53284.1 [Q8TE85-3]

NCBI Reference Sequences

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RefSeqi
NP_001181939.1, NM_001195010.1 [Q8TE85-3]
NP_067003.2, NM_021180.3 [Q8TE85-2]
NP_937816.1, NM_198173.2 [Q8TE85-5]
NP_937817.3, NM_198174.2 [Q8TE85-1]
XP_011540171.1, XM_011541869.1 [Q8TE85-3]
XP_011540172.1, XM_011541870.2 [Q8TE85-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000236255; ENSP00000236255; ENSG00000158055 [Q8TE85-2]
ENST00000350501; ENSP00000288955; ENSG00000158055 [Q8TE85-1]
ENST00000356046; ENSP00000348333; ENSG00000158055 [Q8TE85-3]
ENST00000361548; ENSP00000354943; ENSG00000158055 [Q8TE85-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
57822

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:57822

UCSC genome browser

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UCSCi
uc001bix.3 human [Q8TE85-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY231160 mRNA Translation: AAO67370.1
AY231161 mRNA No translation available.
AK074386 mRNA Translation: BAB85067.1
AK315164 mRNA Translation: BAG37608.1 Different initiation.
AL031431 Genomic DNA No translation available.
AL138902 Genomic DNA No translation available.
CH471134 Genomic DNA Translation: EAW95121.1
BC036890 mRNA Translation: AAH36890.1 Different initiation.
CCDSiCCDS251.1 [Q8TE85-2]
CCDS252.2 [Q8TE85-1]
CCDS44088.1 [Q8TE85-5]
CCDS53284.1 [Q8TE85-3]
RefSeqiNP_001181939.1, NM_001195010.1 [Q8TE85-3]
NP_067003.2, NM_021180.3 [Q8TE85-2]
NP_937816.1, NM_198173.2 [Q8TE85-5]
NP_937817.3, NM_198174.2 [Q8TE85-1]
XP_011540171.1, XM_011541869.1 [Q8TE85-3]
XP_011540172.1, XM_011541870.2 [Q8TE85-4]

3D structure databases

SMRiQ8TE85
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121781, 7 interactors
IntActiQ8TE85, 7 interactors
MINTiQ8TE85
STRINGi9606.ENSP00000288955

PTM databases

iPTMnetiQ8TE85
PhosphoSitePlusiQ8TE85

Polymorphism and mutation databases

BioMutaiGRHL3
DMDMi116242504

Proteomic databases

jPOSTiQ8TE85
MassIVEiQ8TE85
MaxQBiQ8TE85
PaxDbiQ8TE85
PeptideAtlasiQ8TE85
PRIDEiQ8TE85
ProteomicsDBi182
33731
74420 [Q8TE85-1]
74421 [Q8TE85-2]
74422 [Q8TE85-3]
74423 [Q8TE85-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
57822

Genome annotation databases

EnsembliENST00000236255; ENSP00000236255; ENSG00000158055 [Q8TE85-2]
ENST00000350501; ENSP00000288955; ENSG00000158055 [Q8TE85-1]
ENST00000356046; ENSP00000348333; ENSG00000158055 [Q8TE85-3]
ENST00000361548; ENSP00000354943; ENSG00000158055 [Q8TE85-5]
GeneIDi57822
KEGGihsa:57822
UCSCiuc001bix.3 human [Q8TE85-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
57822
DisGeNETi57822

GeneCards: human genes, protein and diseases

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GeneCardsi
GRHL3
HGNCiHGNC:25839 GRHL3
HPAiHPA059960
MalaCardsiGRHL3
MIMi606713 phenotype
608317 gene
neXtProtiNX_Q8TE85
OpenTargetsiENSG00000158055
Orphaneti99771 Bifid uvula
101023 Cleft hard palate
99772 Cleft velum
155878 Submucosal cleft palate
888 Van der Woude syndrome
PharmGKBiPA134987320

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4091 Eukaryota
ENOG410XNZ6 LUCA
GeneTreeiENSGT00940000157970
HOGENOMiHOG000220859
InParanoidiQ8TE85
KOiK09275
OMAiMAVFEND
OrthoDBi286319at2759
PhylomeDBiQ8TE85
TreeFamiTF314132

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GRHL3 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
57822
PharosiQ8TE85

Protein Ontology

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PROi
PR:Q8TE85

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000158055 Expressed in 94 organ(s), highest expression level in ectocervix
ExpressionAtlasiQ8TE85 baseline and differential
GenevisibleiQ8TE85 HS

Family and domain databases

InterProiView protein in InterPro
IPR007604 CP2
IPR040167 TF_CP2-like
PANTHERiPTHR11037 PTHR11037, 1 hit
PfamiView protein in Pfam
PF04516 CP2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGRHL3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TE85
Secondary accession number(s): A2A297
, B2RCL1, G3XAF0, Q5TH78, Q86Y06, Q8N407
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 17, 2006
Last modified: October 16, 2019
This is version 137 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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