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Entry version 143 (02 Jun 2021)
Sequence version 2 (21 Mar 2006)
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Protein

Grainyhead-like protein 1 homolog

Gene

GRHL1

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 involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642).

Important regulator of DSG1 in the context of hair anchorage and epidermal differentiation, participates in the maintenance of the skin barrier. There is no genetic interaction with GRHL3, no functional cooperativity due to diverse target gene selectivity during epithelia development (By similarity).

By similarity3 Publications

Functions as transcription activator.

2 Publications

May function as a repressor in tissues where both isoform 1 and isoform 2 are expressed.

1 Publication

Miscellaneous

GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal 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 functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9NZI5

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1989781, PPARA activates gene expression

<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%5Fand%5Ftaxonomy%5Fsection">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 1 homologImported
Alternative name(s):
Mammalian grainyhead
NH32
Transcription factor CP2-like 2
Transcription factor LBP-32
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:GRHL1Imported
Synonyms:LBP32, MGR, TFCP2L2Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17923, GRHL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609786, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NZI5

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000134317.17

<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

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi378L → A: Decreases affinity for target DNA. 1 Publication1
Mutagenesisi380T → A: Decreases affinity for target DNA. 1 Publication1
Mutagenesisi385Q → A: Decreases affinity for target DNA. 1 Publication1
Mutagenesisi421C → A: No effect on affinity for target DNA. 1 Publication1
Mutagenesisi427R → A: Loss of activity as transcriptional activator. Strongly decreases affinity for target DNA. 1 Publication1
Mutagenesisi427R → Q: Loss of activity as transcriptional activator. Nearly abolishes affinity for target DNA. Causes steric hindrance that impedes DNA-binding by neighboring residues. 1 Publication1
Mutagenesisi428K → A: Decreases affinity for target DNA. 1 Publication1
Mutagenesisi430R → A: Decreases affinity for target DNA. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
29841

Open Targets

More...
OpenTargetsi
ENSG00000134317

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134971477

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NZI5, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GRHL1

Domain mapping of disease mutations (DMDM)

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DMDMi
90101332

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002279901 – 618Grainyhead-like protein 1 homologAdd BLAST618

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei208PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NZI5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NZI5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NZI5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NZI5

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

More...
PaxDbi
Q9NZI5

PeptideAtlas

More...
PeptideAtlasi
Q9NZI5

PRoteomics IDEntifications database

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PRIDEi
Q9NZI5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83404 [Q9NZI5-1]
83405 [Q9NZI5-2]
83406 [Q9NZI5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NZI5

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

More...
PhosphoSitePlusi
Q9NZI5

<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

Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells.2 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal liver and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000134317, Expressed in upper arm skin and 179 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NZI5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NZI5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000134317, Tissue enhanced (esophagus, skin)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds DNA as homodimer (PubMed:29309642). Homodimer, also forms heterodimers with GRHL2 or GRHL3 (PubMed:12175488, PubMed:12549979, PubMed:29309642).

3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
118928, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NZI5, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000324693

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9NZI5, protein

<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

Secondary structure

1618
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9NZI5

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini248 – 474Grh/CP2 DBPROSITE-ProRule annotationAdd BLAST227

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>Regioni1 – 91Transcription activationBy similarityAdd BLAST91
Regioni74 – 94DisorderedSequence analysisAdd BLAST21
Regioni380 – 389Interaction with DNA1 Publication10
Regioni427 – 430Interaction with DNA1 Publication4

<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

More...
eggNOGi
KOG4091, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157612

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_021156_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NZI5

Identification of Orthologs from Complete Genome Data

More...
OMAi
VHHPISK

Database of Orthologous Groups

More...
OrthoDBi
286319at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NZI5

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

Pfam protein domain database

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

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51968, GRH_CP2_DB, 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%5Flength">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 (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NZI5-1) [UniParc]FASTAAdd to basket
Also known as: p70 MGR

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
MTQEYDNKRP VLVLQNEALY PQRRSYTSED EAWKSFLENP LTAATKAMMS
60 70 80 90 100
INGDEDSAAA LGLLYDYYKV PRERRSSTAK PEVEHPEPDH SKRNSIPIVT
110 120 130 140 150
EQPLISAGEN RVQVLKNVPF NIVLPHGNQL GIDKRGHLTA PDTTVTVSIA
160 170 180 190 200
TMPTHSIKTE TQPHGFAVGI PPAVYHPEPT ERVVVFDRNL NTDQFSSGAQ
210 220 230 240 250
APNAQRRTPD STFSETFKEG VQEVFFPSDL SLRMPGMNSE DYVFDSVSGN
260 270 280 290 300
NFEYTLEASK SLRQKPGDST MTYLNKGQFY PITLKEVSSS EGIHHPISKV
310 320 330 340 350
RSVIMVVFAE DKSREDQLRH WKYWHSRQHT AKQRCIDIAD YKESFNTISN
360 370 380 390 400
IEEIAYNAIS FTWDINDEAK VFISVNCLST DFSSQKGVKG LPLNIQVDTY
410 420 430 440 450
SYNNRSNKPV HRAYCQIKVF CDKGAERKIR DEERKQSKRK VSDVKVPLLP
460 470 480 490 500
SHKRMDITVF KPFIDLDTQP VLFIPDVHFA NLQRGTHVLP IASEELEGEG
510 520 530 540 550
SVLKRGPYGT EDDFAVPPST KLARIEEPKR VLLYVRKESE EVFDALMLKT
560 570 580 590 600
PSLKGLMEAI SDKYDVPHDK IGKIFKKCKK GILVNMDDNI VKHYSNEDTF
610
QLQIEEAGGS YKLTLTEI
Length:618
Mass (Da):70,113
Last modified:March 21, 2006 - v2
<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:i449587B17F4A8A44
GO
Isoform 2 (identifier: Q9NZI5-2) [UniParc]FASTAAdd to basket
Also known as: p49 MGR

The sequence of this isoform differs from the canonical sequence as follows:
     1-189: Missing.
     190-249: LNTDQFSSGA...EDYVFDSVSG → MASLWESPQQ...QRPSRKAFRR

Show »
Length:429
Mass (Da):49,182
Checksum:iF8E25E9798F820CE
GO
Isoform 3 (identifier: Q9NZI5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     441-511: VSDVKVPLLP...VLKRGPYGTE → GKCPDPSSQF...LKNWRVKALS
     512-618: Missing.

Show »
Length:511
Mass (Da):57,813
Checksum:i5D3D2B24178DE94B
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z1S6B7Z1S6_HUMAN
Grainyhead-like protein 1 homolog
GRHL1
229Annotation 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>
F8WFB0F8WFB0_HUMAN
Grainyhead-like protein 1 homolog
GRHL1
93Annotation 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>
C9JYY8C9JYY8_HUMAN
Grainyhead-like protein 1 homolog
GRHL1
72Annotation 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>

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 conflicti13V → A in AAF32276 (PubMed:10644752).Curated1
Sequence conflicti230L → F in AAH67521 (PubMed:15489334).Curated1
Sequence conflicti351I → V in AAH67519 (PubMed:15489334).Curated1
Sequence conflicti424G → A in AAH67521 (PubMed:15489334).Curated1
Sequence conflicti582I → V in AAH67520 (PubMed:15489334).Curated1

Natural variant

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_025663191N → S1 PublicationCorresponds to variant dbSNP:rs16867256Ensembl.1
Natural variantiVAR_025664397V → I1 PublicationCorresponds to variant dbSNP:rs2303920Ensembl.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_0176361 – 189Missing in isoform 2. 1 PublicationAdd BLAST189
Alternative sequenceiVSP_017637190 – 249LNTDQ…DSVSG → MASLWESPQQCIILSPLSGW WFSIGISILTSSALVLKPQM LKGELQTRPSQRPSRKAFRR in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_017638441 – 511VSDVK…PYGTE → GKCPDPSSQFLMLKCHCFPL TSEWISQFSNPSLISILSLS SSFLTCTLPTCSGALMSFPL PLKNWRVKALS in isoform 3. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_017639512 – 618Missing in isoform 3. 1 PublicationAdd BLAST107

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF198489 mRNA Translation: AAF32276.1
AF411210 mRNA Translation: AAM22616.1
AK312950 mRNA Translation: BAG35791.1
AC010969 Genomic DNA Translation: AAX93273.1
CH471053 Genomic DNA Translation: EAX00973.1
BC067519 mRNA Translation: AAH67519.1
BC067520 mRNA Translation: AAH67520.1
BC067521 mRNA Translation: AAH67521.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33144.2 [Q9NZI5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_937825.2, NM_198182.2 [Q9NZI5-1]
XP_005246216.1, XM_005246159.3 [Q9NZI5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000324907; ENSP00000324693; ENSG00000134317 [Q9NZI5-1]
ENST00000405379; ENSP00000384209; ENSG00000134317 [Q9NZI5-2]
ENST00000472167; ENSP00000418275; ENSG00000134317 [Q9NZI5-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
29841

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:29841

UCSC genome browser

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UCSCi
uc002raa.4, human [Q9NZI5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF198489 mRNA Translation: AAF32276.1
AF411210 mRNA Translation: AAM22616.1
AK312950 mRNA Translation: BAG35791.1
AC010969 Genomic DNA Translation: AAX93273.1
CH471053 Genomic DNA Translation: EAX00973.1
BC067519 mRNA Translation: AAH67519.1
BC067520 mRNA Translation: AAH67520.1
BC067521 mRNA Translation: AAH67521.1
CCDSiCCDS33144.2 [Q9NZI5-1]
RefSeqiNP_937825.2, NM_198182.2 [Q9NZI5-1]
XP_005246216.1, XM_005246159.3 [Q9NZI5-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5MPFX-ray2.92A/B248-485[»]
5MPHX-ray2.34A248-485[»]
5MPIX-ray2.35A248-485[»]
SMRiQ9NZI5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi118928, 5 interactors
IntActiQ9NZI5, 4 interactors
STRINGi9606.ENSP00000324693

PTM databases

iPTMnetiQ9NZI5
PhosphoSitePlusiQ9NZI5

Genetic variation databases

BioMutaiGRHL1
DMDMi90101332

Proteomic databases

EPDiQ9NZI5
jPOSTiQ9NZI5
MassIVEiQ9NZI5
MaxQBiQ9NZI5
PaxDbiQ9NZI5
PeptideAtlasiQ9NZI5
PRIDEiQ9NZI5
ProteomicsDBi83404 [Q9NZI5-1]
83405 [Q9NZI5-2]
83406 [Q9NZI5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
1788, 121 antibodies

The DNASU plasmid repository

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DNASUi
29841

Genome annotation databases

EnsembliENST00000324907; ENSP00000324693; ENSG00000134317 [Q9NZI5-1]
ENST00000405379; ENSP00000384209; ENSG00000134317 [Q9NZI5-2]
ENST00000472167; ENSP00000418275; ENSG00000134317 [Q9NZI5-3]
GeneIDi29841
KEGGihsa:29841
UCSCiuc002raa.4, human [Q9NZI5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
29841
DisGeNETi29841

GeneCards: human genes, protein and diseases

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GeneCardsi
GRHL1
HGNCiHGNC:17923, GRHL1
HPAiENSG00000134317, Tissue enhanced (esophagus, skin)
MIMi609786, gene
neXtProtiNX_Q9NZI5
OpenTargetsiENSG00000134317
PharmGKBiPA134971477
VEuPathDBiHostDB:ENSG00000134317.17

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4091, Eukaryota
GeneTreeiENSGT00940000157612
HOGENOMiCLU_021156_1_1_1
InParanoidiQ9NZI5
OMAiVHHPISK
OrthoDBi286319at2759
PhylomeDBiQ9NZI5
TreeFamiTF314132

Enzyme and pathway databases

PathwayCommonsiQ9NZI5
ReactomeiR-HSA-1989781, PPARA activates gene expression

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
29841, 7 hits in 1013 CRISPR screens

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

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ChiTaRSi
GRHL1, human

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

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GenomeRNAii
29841
PharosiQ9NZI5, Tbio

Protein Ontology

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PROi
PR:Q9NZI5
RNActiQ9NZI5, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000134317, Expressed in upper arm skin and 179 other tissues
ExpressionAtlasiQ9NZI5, baseline and differential
GenevisibleiQ9NZI5, HS

Family and domain databases

InterProiView protein in InterPro
IPR007604, CP2
PfamiView protein in Pfam
PF04516, CP2, 1 hit
PROSITEiView protein in PROSITE
PS51968, GRH_CP2_DB, 1 hit

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiGRHL1_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: Q9NZI5
Secondary accession number(s): A6NLA4
, B2R7E4, B5MEC2, Q53T93, Q6NWN7, Q6NWN8, Q6NWN9, Q8NI33
<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%5Fand%5Fisoforms">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: March 21, 2006
Last modified: June 2, 2021
This is version 143 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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