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UniProtKB - Q14CM0 (FRPD4_HUMAN)

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Protein

FERM and PDZ domain-containing protein 4

Gene

FRMPD4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.1 Publication

GO - Molecular functioni

  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • positive regulation of synapse structural plasticity Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

LigandLipid-binding

Names & Taxonomyi

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
Gene namesi
Name:FRMPD4
Synonyms:KIAA0316, PDZD10, PDZK10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000169933.12
HGNCiHGNC:29007 FRMPD4
MIMi300838 gene
neXtProtiNX_Q14CM0

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 104 (MRX104)1 Publication
The disease is caused by mutations 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.
See also OMIM:300983
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077481553C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 mutation, Mental retardation

Organism-specific databases

DisGeNETi9758
MalaCardsiFRMPD4
MIMi300983 phenotype
OpenTargetsiENSG00000169933
PharmGKBiPA134977575

Polymorphism and mutation databases

BioMutaiFRMPD4
DMDMi121948742

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003071321 – 1322FERM and PDZ domain-containing protein 4Add BLAST1322

Proteomic databases

EPDiQ14CM0
MaxQBiQ14CM0
PaxDbiQ14CM0
PeptideAtlasiQ14CM0
PRIDEiQ14CM0
ProteomicsDBi60327

PTM databases

iPTMnetiQ14CM0
PhosphoSitePlusiQ14CM0
SwissPalmiQ14CM0

Expressioni

Gene expression databases

BgeeiENSG00000169933
CleanExiHS_FRMPD4
ExpressionAtlasiQ14CM0 baseline and differential
GenevisibleiQ14CM0 HS

Interactioni

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

Protein-protein interaction databases

BioGridi115105, 2 interactors
IntActiQ14CM0, 6 interactors
MINTiQ14CM0
STRINGi9606.ENSP00000370057

Structurei

Secondary structure

11322
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1007 – 1009Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WNDX-ray1.50B978-1025[»]
4WNEX-ray2.00B987-1011[»]
4WNFX-ray2.90B978-1025[»]
4WNGX-ray2.11B978-1025[»]
ProteinModelPortaliQ14CM0
SMRiQ14CM0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 66WWPROSITE-ProRule annotationAdd BLAST34
Domaini78 – 155PDZPROSITE-ProRule annotationAdd BLAST78
Domaini204 – 519FERMPROSITE-ProRule annotationAdd BLAST316

Domaini

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

Phylogenomic databases

eggNOGiKOG3552 Eukaryota
ENOG410YV8Z LUCA
GeneTreeiENSGT00530000063201
HOGENOMiHOG000090222
HOVERGENiHBG106593
InParanoidiQ14CM0
OMAiKDHRHLY
OrthoDBiEOG091G00W9
PhylomeDBiQ14CM0
TreeFamiTF316497

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd00201 WW, 1 hit
Gene3Di1.20.80.10, 1 hit
2.30.29.30, 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
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

Sequencei

Sequence statusi: Complete.

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
Checksum:i79B73E41B89E2D08
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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
UniGeneiHs.657507

Genome annotation databases

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

Similar proteinsi

Entry informationi

Entry nameiFRPD4_HUMAN
AccessioniPrimary (citable) accession number: Q14CM0
Secondary accession number(s): A8K0X9, O15032
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: August 22, 2006
Last modified: June 20, 2018
This is version 104 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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