UniProtKB - Q14CM0 (FRPD4_HUMAN)
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Protein
FERM and PDZ domain-containing protein 4
Gene
FRMPD4
Organism
Homo sapiens (Human)
Status
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
Ligand | Lipid-binding |
Names & Taxonomyi
Protein namesi | Recommended name: FERM and PDZ domain-containing protein 4Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000169933.12. |
HGNCi | HGNC:29007. FRMPD4. |
MIMi | 300838. gene. |
neXtProti | NX_Q14CM0. |
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:300983Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077481 | 553 | C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 102 | R → 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 Publication | 1 | |
Mutagenesisi | 990 | L → A: Nearly abolishes interaction with GPSM2; when associated with 1010-A-A-1011. 1 Publication | 1 | |
Mutagenesisi | 1010 – 1011 | YF → AA: Nearly abolishes interaction with GPSM2; when associated with A-990. 1 Publication | 2 | |
Mutagenesisi | 1319 – 1322 | Missing : Abolishes the interaction with DLG1, DLG2, DLG3 and DLG4/PSD95. Reduces protein localization to dendritic spines. 1 Publication | 4 | |
Mutagenesisi | 1320 | T → D: Abolishes the interaction with DLG4/PSD95. Reduces protein localization to dendritic spines. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 9758. |
MalaCardsi | FRMPD4. |
MIMi | 300983. phenotype. |
OpenTargetsi | ENSG00000169933. |
PharmGKBi | PA134977575. |
Polymorphism and mutation databases
BioMutai | FRMPD4. |
DMDMi | 121948742. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307132 | 1 – 1322 | FERM and PDZ domain-containing protein 4Add BLAST | 1322 |
Proteomic databases
EPDi | Q14CM0. |
MaxQBi | Q14CM0. |
PaxDbi | Q14CM0. |
PeptideAtlasi | Q14CM0. |
PRIDEi | Q14CM0. |
PTM databases
iPTMneti | Q14CM0. |
PhosphoSitePlusi | Q14CM0. |
SwissPalmi | Q14CM0. |
Expressioni
Gene expression databases
Bgeei | ENSG00000169933. |
CleanExi | HS_FRMPD4. |
ExpressionAtlasi | Q14CM0. baseline and differential. |
Genevisiblei | Q14CM0. HS. |
Organism-specific databases
HPAi | HPA035580. |
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
BioGridi | 115105. 2 interactors. |
IntActi | Q14CM0. 6 interactors. |
MINTi | Q14CM0. |
STRINGi | 9606.ENSP00000370057. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Helixi | 1007 – 1009 | Combined sources | 3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4WND | X-ray | 1.50 | B | 978-1025 | [»] | |
4WNE | X-ray | 2.00 | B | 987-1011 | [»] | |
4WNF | X-ray | 2.90 | B | 978-1025 | [»] | |
4WNG | X-ray | 2.11 | B | 978-1025 | [»] | |
ProteinModelPortali | Q14CM0. | |||||
SMRi | Q14CM0. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 33 – 66 | WWPROSITE-ProRule annotationAdd BLAST | 34 | |
Domaini | 78 – 155 | PDZPROSITE-ProRule annotationAdd BLAST | 78 | |
Domaini | 204 – 519 | FERMPROSITE-ProRule annotationAdd BLAST | 316 |
Domaini
The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.1 Publication
Phylogenomic databases
eggNOGi | KOG3552. Eukaryota. ENOG410YV8Z. LUCA. |
GeneTreei | ENSGT00530000063201. |
HOGENOMi | HOG000090222. |
HOVERGENi | HBG106593. |
InParanoidi | Q14CM0. |
OMAi | KDHRHLY. |
OrthoDBi | EOG091G00W9. |
PhylomeDBi | Q14CM0. |
TreeFami | TF316497. |
Family and domain databases
CDDi | cd14473. FERM_B-lobe. 1 hit. cd00201. WW. 1 hit. |
Gene3Di | 1.20.80.10. 1 hit. 2.30.29.30. 1 hit. |
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. IPR001478. PDZ. IPR036034. PDZ_sf. IPR011993. PH-like_dom_sf. IPR029071. Ubiquitin-like_domsf. IPR001202. WW_dom. |
Pfami | View protein in Pfam PF00373. FERM_M. 1 hit. PF00595. PDZ. 1 hit. |
SMARTi | View protein in SMART SM00295. B41. 1 hit. SM00228. PDZ. 1 hit. |
SUPFAMi | SSF47031. SSF47031. 1 hit. SSF50156. SSF50156. 1 hit. SSF54236. SSF54236. 1 hit. |
PROSITEi | View protein in PROSITE PS50057. FERM_3. 1 hit. PS50106. PDZ. 1 hit. PS50020. WW_DOMAIN_2. 1 hit. |
i Sequence
Sequence statusi: Complete.
Q14CM0-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 130 | A → T in BAA20774 (PubMed:9205841).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077481 | 553 | C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209Ensembl. | 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. |
CCDSi | CCDS35201.1. |
RefSeqi | NP_055543.2. NM_014728.3. |
UniGenei | Hs.657507. |
Genome annotation databases
Ensembli | ENST00000380682; ENSP00000370057; ENSG00000169933. |
GeneIDi | 9758. |
KEGGi | hsa:9758. |
UCSCi | uc004cuz.2. human. |
Similar proteinsi
Entry informationi
Entry namei | FRPD4_HUMAN | |
Accessioni | Q14CM0Primary (citable) accession number: Q14CM0 Secondary accession number(s): A8K0X9, O15032 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | August 22, 2006 | |
Last modified: | March 28, 2018 | |
This is version 102 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |