GRHL3
Grainyhead-like protein 3 homolog
Also known as: GRHL3_HUMAN, SOM, TFCP2L4
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TE85
- Gene
- GRHL3
- Ensembl
- ENSG00000158055
- Chromosome
- 1
- Canonical length
- 626 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Actin filaments,Primary cilium,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
Canonical amino-acid sequenceUniProt
626 residues, UniProt reviewed canonical sequence.
>Q8TE85|GRHL3
1 MSNELDFRSV RLLKNDPVNL QKFSYTSEDE AWKTYLENPL TAATKAMMRV NGDDDSVAAL
61 SFLYDYYMGP KEKRILSSST GGRNDQGKRY YHGMEYETDL TPLESPTHLM KFLTENVSGT
121 PEYPDLLKKN NLMSLEGALP TPGKAAPLPA GPSKLEAGSV DSYLLPTTDM YDNGSLNSLF
181 ESIHGVPPTQ RWQPDSTFKD DPQESMLFPD ILKTSPEPPC PEDYPSLKSD FEYTLGSPKA
241 IHIKSGESPM AYLNKGQFYP VTLRTPAGGK GLALSSNKVK SVVMVVFDNE KVPVEQLRFW
301 KHWHSRQPTA KQRVIDVADC KENFNTVEHI EEVAYNALSF VWNVNEEAKV FIGVNCLSTD
361 FSSQKGVKGV PLNLQIDTYD CGLGTERLVH RAVCQIKIFC DKGAERKMRD DERKQFRRKV
421 KCPDSSNSGV KGCLLSGFRG NETTYLRPET DLETPPVLFI PNVHFSSLQR SGGAAPSAGP
481 SSSNRLPLKR TCSPFTEEFE PLPSKQAKEG DLQRVLLYVR RETEEVFDAL MLKTPDLKGL
541 RNAISEKYGF PEENIYKVYK KCKRGETSLL HPRLSRHPPP DCLECSHPVT QVRNMGFGDG
601 FWRQRDLDSN PSPTTVNSLH FTVNSELocalizationUniProt · AlphaFold · HPA
Whether an antibody against GRHL3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 102 nTPM
Expression across tissuesHPA
Tissue
- esophagus: 102 nTPM
- skin: 49 nTPM
- vagina: 43 nTPM
- cervix: 31 nTPM
- urinary bladder: 29 nTPM
- tonsil: 22 nTPM
Single-cell type
- esophageal apical cells: 538 nCPM
- urothelial cells: 304 nCPM
- esophageal suprabasal cells: 251 nCPM
- suprabasal keratinocytes: 216 nCPM
- ocular epithelial cells: 193 nCPM
- epididymal basal cells: 78 nCPM
Immune cell
- eosinophil: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- midbrain: 7.8 nTPM
- medulla oblongata: 7 nTPM
- pons: 6 nTPM
- spinal cord: 5.3 nTPM
- white matter: 3.9 nTPM
- cerebellum: 2.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GRHL3.
Disease | AllUniProt
Conditions GRHL3 is implicated in, by any mechanism.
- Van der Woude syndrome 2 (VWS2) MIM:606713
Disease | GeneticClinVar
20 pathogenic / likely-pathogenic of 251 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Van der Woude syndrome 2
- Isolated cleft palate
- Inborn genetic diseases
- GRHL3-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.28
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 1.42
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- central nervous system development
- cochlea morphogenesis
- ectoderm development
- epidermis development
- establishment of planar polarity
- establishment of skin barrier
- eyelid development in camera-type eye
- neural tube closure
- pattern specification process
- positive regulation of gene expression
- positive regulation of transcription by RNA polymerase II
- regulation of actin cytoskeleton organization
- regulation of transcription by RNA polymerase II
- transcription by RNA polymerase II
- wound healing
Molecular functions
- chromatin DNA binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GRHL3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GRHL3 as an antibody target. Whether an autoantibody or antibody against GRHL3 could matter depends on whether native GRHL3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GRHL3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GRHL3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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