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UniProtKB - Q6ZUT3 (FRMD7_HUMAN)

Entry version 138 (16 Oct 2019)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
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Protein

FERM domain-containing protein 7

Gene

FRMD7

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

Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.By similarity2 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 - Biological processi

Complete GO annotation on QuickGO ...

<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

Biological processNeurogenesis

<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:
FERM domain-containing protein 7
<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:FRMD7
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8079 FRMD7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300628 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6ZUT3

<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

Cell projection

<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

Nystagmus congenital X-linked 1 (NYS1)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
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_06265014Missing in NYS1. 1 Publication1
Natural variantiVAR_07210216F → S in NYS1. 1 Publication1
Natural variantiVAR_02895124G → E in NYS1. 1 Publication1
Natural variantiVAR_02895224G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar.1
Natural variantiVAR_06265124G → W in NYS1. 1 Publication1
Natural variantiVAR_028953142L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar.1
Natural variantiVAR_062652146R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl.1
Natural variantiVAR_072103208H → R in NYS1. 1 Publication1
Natural variantiVAR_072104212L → P in NYS1; decreased RAC1 activity. 1 Publication1
Natural variantiVAR_028954221N → D in NYS1. 1 Publication1
Natural variantiVAR_062653225W → G in NYS1. 1 Publication1
Natural variantiVAR_028955226A → T in NYS1. 2 Publications1
Natural variantiVAR_062654229R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.1
Natural variantiVAR_062655229R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.1
Natural variantiVAR_028956231L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar.1
Natural variantiVAR_062656261R → G in NYS1. 1 Publication1
Natural variantiVAR_062657261R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl.1
Natural variantiVAR_028957266A → P in NYS1. 2 Publications1
Natural variantiVAR_062658271C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.1
Natural variantiVAR_072105271C → S in NYS1. 1 Publication1
Natural variantiVAR_028958271C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.1
Natural variantiVAR_062659275H → P in NYS1. 1 Publication1
Natural variantiVAR_062660296G → R in NYS1. 1 Publication1
Natural variantiVAR_028960301Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl.1
Natural variantiVAR_072106306Q → R in NYS1. 1 Publication1
Natural variantiVAR_028961340S → L in NYS1. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		90167

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

More...GeneReviewsi		FRMD7

MalaCards human disease database

More...MalaCardsi		FRMD7
MIMi310700 phenotype

Open Targets

More...OpenTargetsi		ENSG00000165694

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

More...Orphaneti		651 NON RARE IN EUROPE: Idiopathic infantile nystagmus

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162388934

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6ZUT3

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FRMD7

Domain mapping of disease mutations (DMDM)

More...DMDMi		74749680

<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_00002595321 – 714FERM domain-containing protein 7Add BLAST714

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6ZUT3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6ZUT3

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

More...PaxDbi		Q6ZUT3

PeptideAtlas

More...PeptideAtlasi		Q6ZUT3

PRoteomics IDEntifications database

More...PRIDEi		Q6ZUT3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68358 [Q6ZUT3-1]
68359 [Q6ZUT3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6ZUT3

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

More...PhosphoSitePlusi		Q6ZUT3

<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 liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.1 Publication

<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

In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165694 Expressed in 36 organ(s), highest expression level in body of uterus

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6ZUT3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6ZUT3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA000886

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		124672, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q6ZUT3, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000298542

<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

More...SMRi		Q6ZUT3

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">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>Domaini2 – 282FERMPROSITE-ProRule annotationAdd BLAST281

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili537 – 558Sequence analysisAdd BLAST22

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3531 Eukaryota
ENOG410XP7Q LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158972

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231290

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6ZUT3

Identification of Orthologs from Complete Genome Data

More...OMAi		DIMPPQV

Database of Orthologous Groups

More...OrthoDBi		476668at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6ZUT3

TreeFam database of animal gene trees

More...TreeFami		TF317513

Family and domain databases

Conserved Domains Database

More...CDDi		cd14473 FERM_B-lobe, 1 hit
cd13193 FERM_C_FARP1-like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.80.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019749 Band_41_domain
IPR041788 FARP1/FARP2/FRMD7_FERM_C
IPR014847 FERM-adjacent
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR019747 FERM_CS
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08736 FA, 1 hit
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00935 BAND41

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00295 B41, 1 hit
SM01195 FA, 1 hit
SM01196 FERM_C, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47031 SSF47031, 1 hit
SSF54236 SSF54236, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00660 FERM_1, 1 hit
PS50057 FERM_3, 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 (2+)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 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZUT3-1) [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
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH 
        60         70         80         90        100
SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL 
       110        120        130        140        150
QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN 
       160        170        180        190        200
QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM 
       210        220        230        240        250
QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC 
       260        270        280        290        300
KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR 
       310        320        330        340        350
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ 
       360        370        380        390        400
VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA 
       410        420        430        440        450
DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC 
       460        470        480        490        500
KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD 
       510        520        530        540        550
KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL 
       560        570        580        590        600
QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR 
       610        620        630        640        650
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES 
       660        670        680        690        700
SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA 
       710 
EDRTSLKPCN YFLA
Length:714
Mass (Da):81,614
Last modified:July 5, 2004 - 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:i7AD1D96FD4585217
GO
Isoform 2 (identifier: Q6ZUT3-2) [UniParc]FASTAAdd to basket
Also known as: S

The sequence of this isoform differs from the canonical sequence as follows:
     69-84: NPKEIVFKFMVKFFPV → M

Note: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.
Show »
Length:699
Mass (Da):79,793
Checksum:iA6441806524D27FD
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6R7S7X6R7S7_HUMAN
FERM domain-containing protein 7
FRMD7 RP6-213H19.2, hCG_1646402
594Annotation 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
Natural variantiVAR_06265014Missing in NYS1. 1 Publication1
Natural variantiVAR_07210216F → S in NYS1. 1 Publication1
Natural variantiVAR_02895124G → E in NYS1. 1 Publication1
Natural variantiVAR_02895224G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar.1
Natural variantiVAR_06265124G → W in NYS1. 1 Publication1
Natural variantiVAR_028953142L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar.1
Natural variantiVAR_062652146R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl.1
Natural variantiVAR_072103208H → R in NYS1. 1 Publication1
Natural variantiVAR_072104212L → P in NYS1; decreased RAC1 activity. 1 Publication1
Natural variantiVAR_028954221N → D in NYS1. 1 Publication1
Natural variantiVAR_062653225W → G in NYS1. 1 Publication1
Natural variantiVAR_028955226A → T in NYS1. 2 Publications1
Natural variantiVAR_062654229R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.1
Natural variantiVAR_062655229R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar.1
Natural variantiVAR_028956231L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar.1
Natural variantiVAR_062656261R → G in NYS1. 1 Publication1
Natural variantiVAR_062657261R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl.1
Natural variantiVAR_028957266A → P in NYS1. 2 Publications1
Natural variantiVAR_062658271C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.1
Natural variantiVAR_072105271C → S in NYS1. 1 Publication1
Natural variantiVAR_028958271C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar.1
Natural variantiVAR_062659275H → P in NYS1. 1 Publication1
Natural variantiVAR_028959281S → L. Corresponds to variant dbSNP:rs5977625EnsemblClinVar.1
Natural variantiVAR_062660296G → R in NYS1. 1 Publication1
Natural variantiVAR_028960301Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl.1
Natural variantiVAR_072106306Q → R in NYS1. 1 Publication1
Natural variantiVAR_028961340S → L in NYS1. 2 Publications1
Natural variantiVAR_028962468R → H. Corresponds to variant dbSNP:rs6637934EnsemblClinVar.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_03872269 – 84NPKEI…KFFPV → M in isoform 2. 1 PublicationAdd BLAST16

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
FJ717411 mRNA Translation: ACN56448.1
AK125336 mRNA Translation: BAC86135.1
AL049792 Genomic DNA No translation available.
AL109749 Genomic DNA No translation available.
BC114371 mRNA Translation: AAI14372.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35397.1 [Q6ZUT3-1]
CCDS78504.1 [Q6ZUT3-2]

NCBI Reference Sequences

More...RefSeqi		NP_001293122.1, NM_001306193.1 [Q6ZUT3-2]
NP_919253.1, NM_194277.2 [Q6ZUT3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1]
ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		90167

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:90167

UCSC genome browser

More...UCSCi		uc004ewn.4 human [Q6ZUT3-1]

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
FJ717411 mRNA Translation: ACN56448.1
AK125336 mRNA Translation: BAC86135.1
AL049792 Genomic DNA No translation available.
AL109749 Genomic DNA No translation available.
BC114371 mRNA Translation: AAI14372.1
CCDSiCCDS35397.1 [Q6ZUT3-1]
CCDS78504.1 [Q6ZUT3-2]
RefSeqiNP_001293122.1, NM_001306193.1 [Q6ZUT3-2]
NP_919253.1, NM_194277.2 [Q6ZUT3-1]

3D structure databases

SMRiQ6ZUT3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124672, 2 interactors
IntActiQ6ZUT3, 1 interactor
STRINGi9606.ENSP00000298542

PTM databases

iPTMnetiQ6ZUT3
PhosphoSitePlusiQ6ZUT3

Polymorphism and mutation databases

BioMutaiFRMD7
DMDMi74749680

Proteomic databases

jPOSTiQ6ZUT3
MaxQBiQ6ZUT3
PaxDbiQ6ZUT3
PeptideAtlasiQ6ZUT3
PRIDEiQ6ZUT3
ProteomicsDBi68358 [Q6ZUT3-1]
68359 [Q6ZUT3-2]

Genome annotation databases

EnsembliENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1]
ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2]
GeneIDi90167
KEGGihsa:90167
UCSCiuc004ewn.4 human [Q6ZUT3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		90167
DisGeNETi90167

GeneCards: human genes, protein and diseases

More...GeneCardsi		FRMD7
GeneReviewsiFRMD7
HGNCiHGNC:8079 FRMD7
HPAiHPA000886
MalaCardsiFRMD7
MIMi300628 gene
310700 phenotype
neXtProtiNX_Q6ZUT3
OpenTargetsiENSG00000165694
Orphaneti651 NON RARE IN EUROPE: Idiopathic infantile nystagmus
PharmGKBiPA162388934

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3531 Eukaryota
ENOG410XP7Q LUCA
GeneTreeiENSGT00940000158972
HOGENOMiHOG000231290
InParanoidiQ6ZUT3
OMAiDIMPPQV
OrthoDBi476668at2759
PhylomeDBiQ6ZUT3
TreeFamiTF317513

Miscellaneous databases

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

More...ChiTaRSi		FRMD7 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FRMD7

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

More...GenomeRNAii		90167
PharosiQ6ZUT3

Protein Ontology

More...PROi		PR:Q6ZUT3

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165694 Expressed in 36 organ(s), highest expression level in body of uterus
ExpressionAtlasiQ6ZUT3 baseline and differential
GenevisibleiQ6ZUT3 HS

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd13193 FERM_C_FARP1-like, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR019749 Band_41_domain
IPR041788 FARP1/FARP2/FRMD7_FERM_C
IPR014847 FERM-adjacent
IPR014352 FERM/acyl-CoA-bd_prot_sf
IPR035963 FERM_2
IPR019748 FERM_central
IPR019747 FERM_CS
IPR000299 FERM_domain
IPR018979 FERM_N
IPR018980 FERM_PH-like_C
IPR011993 PH-like_dom_sf
IPR029071 Ubiquitin-like_domsf
PfamiView protein in Pfam
PF08736 FA, 1 hit
PF09380 FERM_C, 1 hit
PF00373 FERM_M, 1 hit
PF09379 FERM_N, 1 hit
PRINTSiPR00935 BAND41
SMARTiView protein in SMART
SM00295 B41, 1 hit
SM01195 FA, 1 hit
SM01196 FERM_C, 1 hit
SUPFAMiSSF47031 SSF47031, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS00660 FERM_1, 1 hit
PS50057 FERM_3, 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 nameiFRMD7_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: Q6ZUT3
Secondary accession number(s): C0LLJ3, Q5JX99
<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: October 31, 2006
Last sequence update: July 5, 2004
Last modified: October 16, 2019
This is version 138 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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