UniProtKB - Q14CM0 (FRPD4_HUMAN)
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
- postsynaptic actin cytoskeleton organization Source: Ensembl
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
HGNCi | HGNC:29007 FRMPD4 |
MIMi | 300838 gene |
neXtProti | NX_Q14CM0 |
Subcellular locationi
Other locations
- dendritic spine 1 Publication
Cytoskeleton
- cytoskeleton Source: InterPro
Other locations
- cell junction Source: UniProtKB-KW
- dendritic spine Source: UniProtKB
- glutamatergic synapse Source: Ensembl
- postsynaptic density Source: Ensembl
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell projection, SynapsePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077481 | 553 | C → R in MRX104. 1 PublicationCorresponds to variant dbSNP:rs886038209EnsemblClinVar. | 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 |
Orphaneti | 777 X-linked non-syndromic intellectual disability |
PharmGKBi | PA134977575 |
Miscellaneous databases
Pharosi | Q14CM0 |
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 |
MassIVEi | Q14CM0 |
MaxQBi | Q14CM0 |
PaxDbi | Q14CM0 |
PeptideAtlasi | Q14CM0 |
PRIDEi | Q14CM0 |
ProteomicsDBi | 60327 |
PTM databases
iPTMneti | Q14CM0 |
PhosphoSitePlusi | Q14CM0 |
SwissPalmi | Q14CM0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000169933 Expressed in 92 organ(s), highest expression level in middle temporal gyrus |
ExpressionAtlasi | Q14CM0 baseline and differential |
Genevisiblei | Q14CM0 HS |
Interactioni
Subunit structurei
Binary interactionsi
Protein-protein interaction databases
BioGridi | 115105, 2 interactors |
IntActi | Q14CM0, 12 interactors |
MINTi | Q14CM0 |
STRINGi | 9606.ENSP00000370057 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q14CM0 |
ModBasei | Search... |
PDBe-KBi | 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 | ENSGT00950000183035 |
HOGENOMi | HOG000090222 |
InParanoidi | Q14CM0 |
OMAi | PRIESCQ |
OrthoDBi | 57420at2759 |
PhylomeDBi | Q14CM0 |
TreeFami | TF316497 |
Family and domain databases
CDDi | cd14473 FERM_B-lobe, 1 hit cd13183 FERM_C_FRMPD1_FRMPD3_FRMPD4, 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 IPR041779 FRMPD1/3/4_FERM_C 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 |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WYX8 | A0A087WYX8_HUMAN | FERM and PDZ domain-containing prot... | FRMPD4 | 1,282 | Annotation score: | ||
A0A1W2PQW0 | A0A1W2PQW0_HUMAN | FERM and PDZ domain-containing prot... | FRMPD4 | 1,340 | Annotation score: | ||
A0A590UJI1 | A0A590UJI1_HUMAN | FERM and PDZ domain-containing prot... | FRMPD4 | 374 | Annotation score: | ||
A0A590UJL7 | A0A590UJL7_HUMAN | FERM and PDZ domain-containing prot... | FRMPD4 | 1,780 | Annotation score: |
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: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 |
CCDSi | CCDS35201.1 |
RefSeqi | NP_055543.2, NM_014728.3 |
Genome annotation databases
Ensembli | ENST00000380682; ENSP00000370057; ENSG00000169933 |
GeneIDi | 9758 |
KEGGi | hsa:9758 |
UCSCi | uc004cuz.2 human |
Similar proteinsi
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 |
CCDSi | CCDS35201.1 |
RefSeqi | NP_055543.2, NM_014728.3 |
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 | [»] | |
SMRi | Q14CM0 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 115105, 2 interactors |
IntActi | Q14CM0, 12 interactors |
MINTi | Q14CM0 |
STRINGi | 9606.ENSP00000370057 |
PTM databases
iPTMneti | Q14CM0 |
PhosphoSitePlusi | Q14CM0 |
SwissPalmi | Q14CM0 |
Polymorphism and mutation databases
BioMutai | FRMPD4 |
DMDMi | 121948742 |
Proteomic databases
EPDi | Q14CM0 |
MassIVEi | Q14CM0 |
MaxQBi | Q14CM0 |
PaxDbi | Q14CM0 |
PeptideAtlasi | Q14CM0 |
PRIDEi | Q14CM0 |
ProteomicsDBi | 60327 |
Protocols and materials databases
DNASUi | 9758 |
Genome annotation databases
Ensembli | ENST00000380682; ENSP00000370057; ENSG00000169933 |
GeneIDi | 9758 |
KEGGi | hsa:9758 |
UCSCi | uc004cuz.2 human |
Organism-specific databases
CTDi | 9758 |
DisGeNETi | 9758 |
GeneCardsi | FRMPD4 |
HGNCi | HGNC:29007 FRMPD4 |
MalaCardsi | FRMPD4 |
MIMi | 300838 gene 300983 phenotype |
neXtProti | NX_Q14CM0 |
OpenTargetsi | ENSG00000169933 |
Orphaneti | 777 X-linked non-syndromic intellectual disability |
PharmGKBi | PA134977575 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3552 Eukaryota ENOG410YV8Z LUCA |
GeneTreei | ENSGT00950000183035 |
HOGENOMi | HOG000090222 |
InParanoidi | Q14CM0 |
OMAi | PRIESCQ |
OrthoDBi | 57420at2759 |
PhylomeDBi | Q14CM0 |
TreeFami | TF316497 |
Miscellaneous databases
ChiTaRSi | FRMPD4 human |
GenomeRNAii | 9758 |
Pharosi | Q14CM0 |
PROi | PR:Q14CM0 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000169933 Expressed in 92 organ(s), highest expression level in middle temporal gyrus |
ExpressionAtlasi | Q14CM0 baseline and differential |
Genevisiblei | Q14CM0 HS |
Family and domain databases
CDDi | cd14473 FERM_B-lobe, 1 hit cd13183 FERM_C_FRMPD1_FRMPD3_FRMPD4, 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 IPR041779 FRMPD1/3/4_FERM_C 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 |
ProtoNeti | Search... |
MobiDBi | Search... |
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: | November 13, 2019 | |
This is version 116 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references