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Entry version 163 (16 Oct 2019)
Sequence version 1 (01 Nov 1996)
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Protein

Protein FRG1

Gene

FRG1

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

Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differentiation through regulation of activity of the histone-lysine N-methyltransferase KMT5B.5 Publications

Caution

Was originally thought to be located in nuclear speckles based on overexpression of the protein (PubMed:15060122). However, the endogenous protein was later shown not be expressed in nuclear speckles (PubMed:21699900).2 Publications

<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 functionActin-binding, RNA-binding
Biological processmRNA processing, mRNA splicing, Myogenesis, Ribosome biogenesis, rRNA processing

<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:
Protein FRG1
Alternative name(s):
FSHD region gene 1 protein
<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:FRG1
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3954 FRG1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601278 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q14331

<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

Cytoplasm, Nucleus, Spliceosome

<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

Facioscapulohumeral muscular dystrophy 1 (FSHD1)2 Publications
The gene represented in this entry may be involved in disease pathogenesis. Overexpression of human FRG1 in mice leads to development of facioscapulohumeral muscular dystrophy (FSHD1)-like symptoms such as kyphosis, progressive muscle dystrophy and skeletal muscle atrophy (PubMed:16341202). It also causes aberrant pre-mRNA splicing of TNNT3 and MTMR1, affects the localization and activity of KMT5B, and leads to increased levels of EID3, resulting in inhibited muscle differentiation (PubMed:23720823). These results suggest that FSHD1 results from inappropriate overexpression of FRG1 which leads to abnormal alternative splicing of specific pre-mRNAs.2 Publications
Disease descriptionA degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
2483

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
FRG1

MalaCards human disease database

More...
MalaCardsi
FRG1
MIMi158900 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000109536

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

More...
Orphaneti
269 Facioscapulohumeral dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28372

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q14331

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FRG1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
18202499

<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_00002207671 – 258Protein FRG1Add BLAST258

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q14331

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q14331

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q14331

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q14331

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

More...
PaxDbi
Q14331

PeptideAtlas

More...
PeptideAtlasi
Q14331

PRoteomics IDEntifications database

More...
PRIDEi
Q14331

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
59967

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q14331

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

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PhosphoSitePlusi
Q14331

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q14331

<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 adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000109536 Expressed in 112 organ(s), highest expression level in kidney

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q14331 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q14331 HS

<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 and homotetramer in solution. Identified in the spliceosome C complex.

Interacts with KMT5B (via C-terminus).

Interacts (via N-terminus) with KPNA2 and NXF1/TAP.

Interacts with F-actin with a stoichiometry of 2:1.

3 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108764, 19 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q14331

Protein interaction database and analysis system

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IntActi
Q14331, 13 interactors

Molecular INTeraction database

More...
MINTi
Q14331

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000226798

<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
Q14331

Database of comparative protein structure models

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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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi22 – 32Nuclear localization signalSequence analysisAdd BLAST11
Motifi235 – 251Bipartite nuclear localization signalSequence analysisAdd BLAST17

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi8 – 32Lys-richAdd BLAST25

<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 FRG1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3962 Eukaryota
ENOG411009G LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004552

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007130

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q14331

KEGG Orthology (KO)

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KOi
K13122

Identification of Orthologs from Complete Genome Data

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OMAi
EQWEPIF

Database of Orthologous Groups

More...
OrthoDBi
390511at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q14331

TreeFam database of animal gene trees

More...
TreeFami
TF314108

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008999 Actin-crosslinking
IPR010414 FRG1

The PANTHER Classification System

More...
PANTHERi
PTHR12928 PTHR12928, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06229 FRG1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50405 SSF50405, 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>Sequence (1+)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 has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q14331-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV
60 70 80 90 100
TNFGEISGTI AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV
110 120 130 140 150
KLSDSRIALK SGYGKYLGIN SDGLVVGRSD AIGPREQWEP VFQNGKMALL
160 170 180 190 200
ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI RSCAERETKK KDDIPEEDKG
210 220 230 240 250
NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL HETLLDRRAK

LKADRYCK
Length:258
Mass (Da):29,172
Last modified:November 1, 1996 - v1
<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:iFFBC981B7602BDB3
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSQ7J3KSQ7_HUMAN
Protein FRG1
FRG1
84Annotation 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>
E9PRR7E9PRR7_HUMAN
Protein FRG1
FRG1
116Annotation 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>
E9PLY7E9PLY7_HUMAN
Protein FRG1
FRG1
102Annotation 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>
E9PI42E9PI42_HUMAN
Protein FRG1
FRG1
42Annotation 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>

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_04910519T → A. Corresponds to variant dbSNP:rs17797703Ensembl.1

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
L76159 mRNA Translation: AAA95939.1
AF146191 Genomic DNA Translation: AAD46768.1
AK291890 mRNA Translation: BAF84579.1
CH471056 Genomic DNA Translation: EAX04600.1
BC053997 mRNA Translation: AAH53997.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34121.1

NCBI Reference Sequences

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RefSeqi
NP_004468.1, NM_004477.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000226798; ENSP00000226798; ENSG00000109536
ENST00000620886; ENSP00000483471; ENSG00000275145
ENST00000636590; ENSP00000490541; ENSG00000283153
ENST00000637998; ENSP00000489690; ENSG00000283630

Database of genes from NCBI RefSeq genomes

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GeneIDi
2483

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2483

UCSC genome browser

More...
UCSCi
uc003izs.4 human

Keywords - Coding sequence diversityi

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
L76159 mRNA Translation: AAA95939.1
AF146191 Genomic DNA Translation: AAD46768.1
AK291890 mRNA Translation: BAF84579.1
CH471056 Genomic DNA Translation: EAX04600.1
BC053997 mRNA Translation: AAH53997.1
CCDSiCCDS34121.1
RefSeqiNP_004468.1, NM_004477.2

3D structure databases

SMRiQ14331
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108764, 19 interactors
CORUMiQ14331
IntActiQ14331, 13 interactors
MINTiQ14331
STRINGi9606.ENSP00000226798

PTM databases

iPTMnetiQ14331
PhosphoSitePlusiQ14331
SwissPalmiQ14331

Polymorphism and mutation databases

BioMutaiFRG1
DMDMi18202499

Proteomic databases

EPDiQ14331
jPOSTiQ14331
MassIVEiQ14331
MaxQBiQ14331
PaxDbiQ14331
PeptideAtlasiQ14331
PRIDEiQ14331
ProteomicsDBi59967

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2483

Genome annotation databases

EnsembliENST00000226798; ENSP00000226798; ENSG00000109536
ENST00000620886; ENSP00000483471; ENSG00000275145
ENST00000636590; ENSP00000490541; ENSG00000283153
ENST00000637998; ENSP00000489690; ENSG00000283630
GeneIDi2483
KEGGihsa:2483
UCSCiuc003izs.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2483
DisGeNETi2483

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FRG1
GeneReviewsiFRG1
HGNCiHGNC:3954 FRG1
MalaCardsiFRG1
MIMi158900 phenotype
601278 gene
neXtProtiNX_Q14331
OpenTargetsiENSG00000109536
Orphaneti269 Facioscapulohumeral dystrophy
PharmGKBiPA28372

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3962 Eukaryota
ENOG411009G LUCA
GeneTreeiENSGT00390000004552
HOGENOMiHOG000007130
InParanoidiQ14331
KOiK13122
OMAiEQWEPIF
OrthoDBi390511at2759
PhylomeDBiQ14331
TreeFamiTF314108

Miscellaneous databases

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

More...
ChiTaRSi
FRG1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
FRG1

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

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GenomeRNAii
2483
PharosiQ14331

Protein Ontology

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PROi
PR:Q14331

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109536 Expressed in 112 organ(s), highest expression level in kidney
ExpressionAtlasiQ14331 baseline and differential
GenevisibleiQ14331 HS

Family and domain databases

InterProiView protein in InterPro
IPR008999 Actin-crosslinking
IPR010414 FRG1
PANTHERiPTHR12928 PTHR12928, 1 hit
PfamiView protein in Pfam
PF06229 FRG1, 1 hit
SUPFAMiSSF50405 SSF50405, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiFRG1_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: Q14331
Secondary accession number(s): A8K775
<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: September 26, 2001
Last sequence update: November 1, 1996
Last modified: October 16, 2019
This is version 163 of the entry and version 1 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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