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UniProtKB - Q14CM0 (FRPD4_HUMAN)

Entry version 127 (29 Sep 2021)
Sequence version 1 (22 Aug 2006)
Previous versions | rss
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Protein

FERM and PDZ domain-containing protein 4

Gene

FRMPD4

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

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

  • positive regulation of synapse structural plasticity Source: UniProtKB
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

LigandLipid-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q14CM0

<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 and PDZ domain-containing protein 4
Alternative name(s):
PDZ domain-containing protein 10
PSD-95-interacting regulator of spine morphogenesis
Short name:
Preso
<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:FRMPD4
Synonyms:KIAA0316, PDZD10, PDZK10
<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:29007, FRMPD4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300838, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q14CM0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000169933

<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

Cell junction, Cell projection, Synapse

<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

Mental retardation, X-linked 104 (MRX104)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
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_077481553C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi102R → A: Abolishes the interaction with ARHGEF7. Mutant overexpression in cultured neurons does not induce a significant increase in spine density contrary to wild type. 1 Publication1
Mutagenesisi990L → A: Nearly abolishes interaction with GPSM2; when associated with 1010-A-A-1011. 1 Publication1
Mutagenesisi1010 – 1011YF → AA: Nearly abolishes interaction with GPSM2; when associated with A-990. 1 Publication2
Mutagenesisi1319 – 1322Missing : Abolishes the interaction with DLG1, DLG2, DLG3 and DLG4/PSD95. Reduces protein localization to dendritic spines. 1 Publication4
Mutagenesisi1320T → D: Abolishes the interaction with DLG4/PSD95. Reduces protein localization to dendritic spines. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		9758

MalaCards human disease database

More...MalaCardsi		FRMPD4
MIMi300983, phenotype

Open Targets

More...OpenTargetsi		ENSG00000169933

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

More...Orphaneti		777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134977575

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q14CM0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FRMPD4

Domain mapping of disease mutations (DMDM)

More...DMDMi		121948742

<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_00003071321 – 1322FERM and PDZ domain-containing protein 4Add BLAST1322

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q14CM0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q14CM0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q14CM0

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

More...PaxDbi		Q14CM0

PeptideAtlas

More...PeptideAtlasi		Q14CM0

PRoteomics IDEntifications database

More...PRIDEi		Q14CM0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60327

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q14CM0, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q14CM0

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

More...PhosphoSitePlusi		Q14CM0

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q14CM0

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000169933, Expressed in middle temporal gyrus and 100 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q14CM0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q14CM0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000169933, Group enriched (brain, parathyroid gland)

<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

Interacts (via C-terminus) with DLG1, DLG2, DLG3 and DLG4/PSD95.

Interacts (via N-terminus) with ARHGEF7; the interaction is mediated by the PDZ domain (PubMed:19118189).

Interacts with GPSM2 (via TPR repeat region) (PubMed:25664792).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115105, 5 interactors

Protein interaction database and analysis system

More...IntActi		Q14CM0, 13 interactors

Molecular INTeraction database

More...MINTi		Q14CM0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000370057

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q14CM0, 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

11322
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

More...SMRi		Q14CM0

Database of comparative protein structure models

More...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_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>Domaini33 – 66WWPROSITE-ProRule annotationAdd BLAST34
Domaini78 – 155PDZPROSITE-ProRule annotationAdd BLAST78
Domaini204 – 519FERMPROSITE-ProRule annotationAdd BLAST316

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>Regioni809 – 847DisorderedSequence analysisAdd BLAST39
Regioni900 – 927DisorderedSequence analysisAdd BLAST28
Regioni952 – 983DisorderedSequence analysisAdd BLAST32
Regioni1027 – 1080DisorderedSequence analysisAdd BLAST54
Regioni1105 – 1148DisorderedSequence analysisAdd BLAST44
Regioni1160 – 1180DisorderedSequence analysisAdd BLAST21
Regioni1207 – 1227DisorderedSequence analysisAdd BLAST21

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1066 – 1080Polar residuesSequence analysisAdd BLAST15
Compositional biasi1163 – 1180Basic and acidic residuesSequence analysisAdd BLAST18

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3552, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183035

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002690_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q14CM0

Database of Orthologous Groups

More...OrthoDBi		57420at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q14CM0

TreeFam database of animal gene trees

More...TreeFami		TF316497

Family and domain databases

Conserved Domains Database

More...CDDi		cd14473, FERM_B-lobe, 1 hit
cd13183, FERM_C_FRMPD1_FRMPD3_FRMPD4, 1 hit
cd00201, WW, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.80.10, 1 hit
2.30.29.30, 1 hit
2.30.42.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR041779, FRMPD1/3/4_FERM_C
IPR001478, PDZ
IPR036034, PDZ_sf
IPR011993, PH-like_dom_sf
IPR029071, Ubiquitin-like_domsf
IPR001202, WW_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00373, FERM_M, 1 hit
PF00595, PDZ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00295, B41, 1 hit
SM00228, PDZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47031, SSF47031, 1 hit
SSF50156, SSF50156, 1 hit
SSF54236, SSF54236, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50057, FERM_3, 1 hit
PS50106, PDZ, 1 hit
PS50020, WW_DOMAIN_2, 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 7 potential isoforms that are computationally mapped.Show allAlign All

Q14CM0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDVFSFVKIA KLSSHRTKSS GWPPPSGTWG LSQVPPYGWE MTANRDGRDY 
        60         70         80         90        100
FINHMTQAIP FDDPRLESCQ IIPPAPRKVE MRRDPVLGFG FVAGSEKPVV 
       110        120        130        140        150
VRSVTPGGPS EGKLIPGDQI VMINDEPVSA APRERVIDLV RSCKESILLT 
       160        170        180        190        200
VIQPYPSPKS AFISAAKKAR LKSNPVKVRF SEEVIINGQV SETVKDNSLL 
       210        220        230        240        250
FMPNVLKVYL ENGQTKSFRF DCSTSIKDVI LTLQEKLSIK GIEHFSLMLE 
       260        270        280        290        300
QRTEGAGTKL LLLHEQETLT QVTQRPSSHK MRCLFRISFV PKDPIDLLRR 
       310        320        330        340        350
DPVAFEYLYV QSCNDVVQER FGPELKYDIA LRLAALQMYI ATVTTKQTQK 
       360        370        380        390        400
ISLKYIEKEW GLETFLPSAV LQSMKEKNIK KALSHLVKAN QNLVPPGKKL 
       410        420        430        440        450
SALQAKVHYL KFLSDLRLYG GRVFKATLVQ AEKRSEVTLL VGPRYGISHV 
       460        470        480        490        500
INTKTNLVAL LADFSHVNRI EMFSEEESLV RVELHVLDVK PITLLMESSD 
       510        520        530        540        550
AMNLACLTAG YYRLLVDSRR SIFNMANKKN TATQETGPEN KGKHNLLGPD 
       560        570        580        590        600
WNCIPQMTTF IGEGEQEAQI TYIDSKQKTV EITDSTMCPK EHRHLYIDNA 
       610        620        630        640        650
YSSDGLNQQL SQPGEAPCEA DYRSLAQRSL LTLSGPETLK KAQESPRGAK 
       660        670        680        690        700
VSFIFGDFAL DDGISPPTLG YETLLDEGPE MLEKQRNLYI GSANDMKGLD 
       710        720        730        740        750
LTPEAEGIQF VENSVYANIG DVKSFQAAEG IEEPLLHDIC YAENTDDAED 
       760        770        780        790        800
EDEVSCEEDL VVGEMNQPAI LNLSGSSDDI IDLTSLPPPE GDDNEDDFLL 
       810        820        830        840        850
RSLNMAIAAP PPGFRDSSDE EDSQSQAASF PEDKEKGSSL QNDEIPVSLI 
       860        870        880        890        900
DAVPTSAEGK CEKGLDNAVV STLGALEALS VSEEQQTSDN SGVAILRAYS 
       910        920        930        940        950
PESSSDSGNE TNSSEMTESS ELATAQKQSE NLSRMFLATH EGYHPLAEEQ 
       960        970        980        990       1000
TEFPASKTPA GGLPPKSSHA LAARPATDLP PKVVPSKQLL HSDHMEMEPE 
      1010       1020       1030       1040       1050
TMETKSVTDY FSKLHMGSVA YSCTSKRKSK LADGEGKAPP NGNTTGKKQQ 
      1060       1070       1080       1090       1100
GTKTAEMEEE ASGKFGTVSS RDSQHLSTFN LERTAFRKDS QRWYVATEGG 
      1110       1120       1130       1140       1150
MAEKSGLEAA TGKTFPRASG LGAREAEGKE EGAPDGETSD GSGLGQGDRF 
      1160       1170       1180       1190       1200
LTDVTCASSA KDLDNPEDAD SSTCDHPSKL PEADESVARL CDYHLAKRMS 
      1210       1220       1230       1240       1250
SLQSEGHFSL QSSQGSSVDA GCGTGSSGSA CATPVESPLC PSLGKHLIPD 
      1260       1270       1280       1290       1300
ASGKGVNYIP SEERAPGLPN HGATFKELHP QTEGMCPRMT VPALHTAINT 
      1310       1320 
EPLFGTLRDG CHRLPKIKET TV
Length:1,322
Mass (Da):144,379
Last modified:August 22, 2006 - 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:i79B73E41B89E2D08
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A6Q8PH73A0A6Q8PH73_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,762Annotation 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>
A0A087WYX8A0A087WYX8_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,282Annotation 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>
A0A1W2PQW0A0A1W2PQW0_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,340Annotation 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>
A0A590UJL7A0A590UJL7_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,780Annotation 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>
A0A5F9ZH12A0A5F9ZH12_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,319Annotation 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>
A0A5F9ZHT2A0A5F9ZHT2_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
1,311Annotation 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>
A0A590UJI1A0A590UJI1_HUMAN
FERM and PDZ domain-containing prot...
FRMPD4
374Annotation 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 conflicti130A → T in BAA20774 (PubMed:9205841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077481553C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209EnsemblClinVar.1

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
AB002314 mRNA Translation: BAA20774.3
AK289694 mRNA Translation: BAF82383.1
BC113700 mRNA Translation: AAI13701.1
BC113702 mRNA Translation: AAI13703.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35201.1

NCBI Reference Sequences

More...RefSeqi		NP_055543.2, NM_014728.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000380682; ENSP00000370057; ENSG00000169933

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9758

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9758

UCSC genome browser

More...UCSCi		uc004cuz.2, human

<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
AB002314 mRNA Translation: BAA20774.3
AK289694 mRNA Translation: BAF82383.1
BC113700 mRNA Translation: AAI13701.1
BC113702 mRNA Translation: AAI13703.1
CCDSiCCDS35201.1
RefSeqiNP_055543.2, NM_014728.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WNDX-ray1.50B978-1025[»]
4WNEX-ray2.00B987-1011[»]
4WNFX-ray2.90B978-1025[»]
4WNGX-ray2.11B978-1025[»]
7BYJX-ray2.49A193-527[»]
SMRiQ14CM0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115105, 5 interactors
IntActiQ14CM0, 13 interactors
MINTiQ14CM0
STRINGi9606.ENSP00000370057

PTM databases

GlyGeniQ14CM0, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ14CM0
PhosphoSitePlusiQ14CM0
SwissPalmiQ14CM0

Genetic variation databases

BioMutaiFRMPD4
DMDMi121948742

Proteomic databases

EPDiQ14CM0
MassIVEiQ14CM0
MaxQBiQ14CM0
PaxDbiQ14CM0
PeptideAtlasiQ14CM0
PRIDEiQ14CM0
ProteomicsDBi60327

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49701, 41 antibodies

The DNASU plasmid repository

More...DNASUi		9758

Genome annotation databases

EnsembliENST00000380682; ENSP00000370057; ENSG00000169933
GeneIDi9758
KEGGihsa:9758
UCSCiuc004cuz.2, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9758
DisGeNETi9758

GeneCards: human genes, protein and diseases

More...GeneCardsi		FRMPD4
HGNCiHGNC:29007, FRMPD4
HPAiENSG00000169933, Group enriched (brain, parathyroid gland)
MalaCardsiFRMPD4
MIMi300838, gene
300983, phenotype
neXtProtiNX_Q14CM0
OpenTargetsiENSG00000169933
Orphaneti777, X-linked non-syndromic intellectual disability
PharmGKBiPA134977575
VEuPathDBiHostDB:ENSG00000169933

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3552, Eukaryota
GeneTreeiENSGT00950000183035
HOGENOMiCLU_002690_0_0_1
InParanoidiQ14CM0
OrthoDBi57420at2759
PhylomeDBiQ14CM0
TreeFamiTF316497

Enzyme and pathway databases

PathwayCommonsiQ14CM0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9758, 5 hits in 633 CRISPR screens

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

More...ChiTaRSi		FRMPD4, human

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

More...GenomeRNAii		9758
PharosiQ14CM0, Tbio

Protein Ontology

More...PROi		PR:Q14CM0
RNActiQ14CM0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000169933, Expressed in middle temporal gyrus and 100 other tissues
ExpressionAtlasiQ14CM0, baseline and differential
GenevisibleiQ14CM0, HS

Family and domain databases

CDDicd14473, FERM_B-lobe, 1 hit
cd13183, FERM_C_FRMPD1_FRMPD3_FRMPD4, 1 hit
cd00201, WW, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 1 hit
2.30.42.10, 1 hit
InterProiView protein in InterPro
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR041779, FRMPD1/3/4_FERM_C
IPR001478, PDZ
IPR036034, PDZ_sf
IPR011993, PH-like_dom_sf
IPR029071, Ubiquitin-like_domsf
IPR001202, WW_dom
PfamiView protein in Pfam
PF00373, FERM_M, 1 hit
PF00595, PDZ, 1 hit
SMARTiView protein in SMART
SM00295, B41, 1 hit
SM00228, PDZ, 1 hit
SUPFAMiSSF47031, SSF47031, 1 hit
SSF50156, SSF50156, 1 hit
SSF54236, SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50057, FERM_3, 1 hit
PS50106, PDZ, 1 hit
PS50020, WW_DOMAIN_2, 1 hit

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 nameiFRPD4_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: Q14CM0
Secondary accession number(s): A8K0X9, O15032
<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 23, 2007
Last sequence update: August 22, 2006
Last modified: September 29, 2021
This is version 127 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

3D-structure, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: 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
UniProt is an ELIXIR core data resource
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