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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

GO - Biological processi

  • positive regulation of synapse structural plasticity Source: UniProtKB

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

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

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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