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Protein

FERM and PDZ domain-containing protein 1

Gene

FRMPD1

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

Functioni

Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.1 Publication

Caution

GO - Biological processi

  • establishment of protein localization to membrane Source: UniProtKB
  • regulation of G-protein coupled receptor protein signaling pathway Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
FERM and PDZ domain-containing protein 1
Alternative name(s):
FERM domain-containing protein 2
Gene namesi
Name:FRMPD1
Synonyms:FRMD2, KIAA0967
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000070601.9
HGNCiHGNC:29159 FRMPD1
MIMi616919 gene
neXtProtiNX_Q5SYB0

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 membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi924E → A: Abolishes interaction with GPSM2. 1 Publication1
Mutagenesisi929E → A: Strongly reduces GPSM2 binding. 1 Publication1
Mutagenesisi931K → A: Strongly reduces GPSM2 binding. 1 Publication1

Organism-specific databases

DisGeNETi22844
OpenTargetsiENSG00000070601
PharmGKBiPA134910182

Polymorphism and mutation databases

BioMutaiFRMPD1
DMDMi74754275

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003068051 – 1578FERM and PDZ domain-containing protein 1Add BLAST1578

Proteomic databases

PaxDbiQ5SYB0
PeptideAtlasiQ5SYB0
PRIDEiQ5SYB0

PTM databases

iPTMnetiQ5SYB0
PhosphoSitePlusiQ5SYB0

Expressioni

Gene expression databases

BgeeiENSG00000070601
CleanExiHS_FRMPD1
ExpressionAtlasiQ5SYB0 baseline and differential
GenevisibleiQ5SYB0 HS

Organism-specific databases

HPAiHPA042934

Interactioni

Subunit structurei

Interacts with GPSM1 (PubMed:18566450). Interacts with GPSM2 (via TPR repeat region) (PubMed:23318951).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA6P433603EBI-10245120,EBI-1045155

Protein-protein interaction databases

BioGridi1165163 interactors.
ELMiQ5SYB0
IntActiQ5SYB0 2 interactors.
MINTiQ5SYB0
STRINGi9606.ENSP00000366995

Structurei

Secondary structure

11578
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi54 – 60Combined sources7
Beta strandi64 – 66Combined sources3
Beta strandi75 – 78Combined sources4
Beta strandi86 – 90Combined sources5
Turni91 – 93Combined sources3
Beta strandi99 – 105Combined sources7
Helixi113 – 122Combined sources10
Beta strandi127 – 133Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2EDVNMR-A54-136[»]
4G2VX-ray2.40B901-938[»]
ProteinModelPortaliQ5SYB0
SMRiQ5SYB0
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ5SYB0

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 135PDZPROSITE-ProRule annotationAdd BLAST79
Domaini181 – 496FERMPROSITE-ProRule annotationAdd BLAST316

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni924 – 931Important for interaction with GPSM21 Publication8

Phylogenomic databases

eggNOGiKOG3552 Eukaryota
ENOG410YV8Z LUCA
GeneTreeiENSGT00530000063201
HOGENOMiHOG000112646
HOVERGENiHBG101205
InParanoidiQ5SYB0
OMAiSHIWPEY
OrthoDBiEOG091G00W9
PhylomeDBiQ5SYB0
TreeFamiTF316497

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.101 hit
2.30.29.301 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
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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5SYB0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEELETSLFQ TRKAHRIEQM VARWLRRSRD SSARAKVAAA DGPARNPTQT
60 70 80 90 100
LIPVRHTVKI DKDTLLQDYG FHISESLPLT VVAVTAGGSA HGKLFPGDQI
110 120 130 140 150
LQMNNEPAED LSWERAVDIL REAEDSLSIT VVRCTSGVPK SSFLTEEKRA
160 170 180 190 200
RLKTNPVKVH FAEEVLISGH SQGNSLLCMP NVLKLYLENG QTKAFKFEAN
210 220 230 240 250
TTVKDIILTV KEKLSIRSIE YFALALEEQY SISRLHLLHE EELIQQVVER
260 270 280 290 300
EESHDYRCLF RVCFVPKDPL DLLKEDPVAF EYLYLQSCSD VLQERFAVEM
310 320 330 340 350
KCSSALRLAA LHIQERIYAC AQPQKISLKY IEKDWGIENF ISPTLLRNMK
360 370 380 390 400
GKDIKKAISF HMKRNQNLLE PRQKQLISAA QLRLNYLQIL GELKTYGGRI
410 420 430 440 450
FNATLMLQDR ESYIALLVGA KYGISQVINS KLNIMSTLAE FANISRVELT
460 470 480 490 500
EESEKVSVVK VYLQDVKVLT LLLESNSAKD LACLIAGYYR LLVDPVTSIF
510 520 530 540 550
LWPGNKQQAH RVSAEEGYES RACSDSEESS EVDCVLEPLS DRRLVKLAPC
560 570 580 590 600
RSLIKEEQPP GNSPTPEVAR RGPSTCGASS TTDSAESEAS DSANTESRGY
610 620 630 640 650
RTSGSSESMD ALEEDDLDTC SSSRSTFFHF GSPGLAESID SDSQEERSGI
660 670 680 690 700
ETSGFLCLLD LAQRANPQCQ KTEFSESAAL ETFGWAPELS TVRLDPRLYE
710 720 730 740 750
GSHADYYSLC SSVSPASYLS DSSESTASRQ GGAPPAWGQQ GWTEAQPSSM
760 770 780 790 800
LEPLALHPPL AFEDGSSDEE YYDAADKLTP PGPPSGPRDV STAEPSATSL
810 820 830 840 850
QNKASTSSPE NSLPCGPDGR QPSRRGGVKK YAKTLRKRRS FLQTDYTSQV
860 870 880 890 900
SFPLVPSASL ESVDDVCYYD REPYLALGAP SPTVSSLQDM QGEPGLLETK
910 920 930 940 950
ALGLLAPLRE TKSTNPASRV MEMEPETMET KSVIDSRVSS ISAIRFRIDP
960 970 980 990 1000
NNKENSGVVP AASSSASTPH CSNPGSSGPD TAQARPSQIL PLSQDLDGIA
1010 1020 1030 1040 1050
PKEPTIEHGD SSFSLSSGDP NPDRACLASN PGLNNVSQGD TLELQLEPHV
1060 1070 1080 1090 1100
QLEMGLESFC TNHIQETAPK YTEPLLSPRD EPRSDECGIN PGEKIASIPT
1110 1120 1130 1140 1150
KEEPQGQLSL ERDREVTNKN GTNVFQEESR KDSGDSPGDV SNNVSQTLDI
1160 1170 1180 1190 1200
SSPAGKIVTS LSLDAPVTGT EQIPPHPPRD PQGQSREPPG QGCQAQEQKL
1210 1220 1230 1240 1250
FVELDLDPDF FLGKQTVSPA VPPEGIKAEA PNHVTGQDIA PRDSPEWVCF
1260 1270 1280 1290 1300
NPEPSLPEPL PCPQEDPHLE TSNHCLLSEG KSDSSSICLS AEKSFLCFAP
1310 1320 1330 1340 1350
ESHPEVSASL RVATSLGFAG MNEMVAPRIG MDQCSCQFSY ATCFRGPQPE
1360 1370 1380 1390 1400
TEEEDRDLEA HPMAPLTSPP SAGSPVVLPW RPARAHSCTT APLSRKSHIW
1410 1420 1430 1440 1450
PEYCSRALRQ LKATPASTPE GFIQLMESLL ELQDILETSW GVGNKHPPEK
1460 1470 1480 1490 1500
CTWHFTESRS RLCMGSQKLL SSCRHVIRMD QSPEEMQGAV RDTFQHLVQL
1510 1520 1530 1540 1550
AGLCFQFTDC SRCSARHREA AGNLRDVVYT YHQFIEAAKS TCERGYHDLS
1560 1570
VKLLARQCTA LTAAVFCLTQ KFRASTAL
Length:1,578
Mass (Da):173,437
Last modified:July 5, 2005 - v1
Checksum:iDE1D285EEC3A743E
GO
Isoform 2 (identifier: Q5SYB0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-178: Missing.
     787-812: PRDVSTAEPSATSLQNKASTSSPENS → EPSLAGLQTRQAAPECLPGIKAWGQA
     813-1578: Missing.

Note: No experimental confirmation available.
Show »
Length:634
Mass (Da):70,342
Checksum:i033CB8E3B8A1B0FB
GO
Isoform 3 (identifier: Q5SYB0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MEELE → MAEVG
     6-136: Missing.
     787-812: PRDVSTAEPSATSLQNKASTSSPENS → EPSLAGLQTRQAAPECLPGIKAWGQA
     813-1578: Missing.

Note: No experimental confirmation available.
Show »
Length:681
Mass (Da):75,420
Checksum:iDE916F42850847DC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti404T → A in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti428I → T in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti1278S → L in BAA76811 (PubMed:10231032).Curated1
Sequence conflicti1418T → A in CAI46019 (PubMed:17974005).Curated1
Sequence conflicti1446H → I in CAI46019 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0353066T → P. Corresponds to variant dbSNP:rs3747539Ensembl.1
Natural variantiVAR_03530744A → T. Corresponds to variant dbSNP:rs2296556Ensembl.1
Natural variantiVAR_03530850T → N. Corresponds to variant dbSNP:rs7031966Ensembl.1
Natural variantiVAR_035309225A → V. Corresponds to variant dbSNP:rs1359590Ensembl.1
Natural variantiVAR_035445572G → D in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035310846Y → D1 PublicationCorresponds to variant dbSNP:rs34233395Ensembl.1
Natural variantiVAR_0353111092G → E. Corresponds to variant dbSNP:rs35075933Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0560601 – 178Missing in isoform 2. 1 PublicationAdd BLAST178
Alternative sequenceiVSP_0560611 – 5MEELE → MAEVG in isoform 3. 1 Publication5
Alternative sequenceiVSP_0560626 – 136Missing in isoform 3. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_056063787 – 812PRDVS…SPENS → EPSLAGLQTRQAAPECLPGI KAWGQA in isoform 2 and isoform 3. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_056064813 – 1578Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST766

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023184 mRNA Translation: BAA76811.1
AK302739 mRNA Translation: BAH13793.1
AK302854 mRNA Translation: BAG64040.1
BX648967 mRNA Translation: CAI46019.1
AL591470, AL513165 Genomic DNA Translation: CAI12951.1
AL513165, AL591470 Genomic DNA Translation: CAI16156.1
CH471071 Genomic DNA Translation: EAW58270.1
CH471071 Genomic DNA Translation: EAW58271.1
BC114965 mRNA Translation: AAI14966.1
CCDSiCCDS6612.1 [Q5SYB0-1]
RefSeqiNP_055722.2, NM_014907.2 [Q5SYB0-1]
XP_011516105.1, XM_011517803.2 [Q5SYB0-1]
XP_011516106.1, XM_011517804.2 [Q5SYB0-1]
XP_016869969.1, XM_017014480.1 [Q5SYB0-1]
UniGeneiHs.163990

Genome annotation databases

EnsembliENST00000377765; ENSP00000366995; ENSG00000070601 [Q5SYB0-1]
ENST00000539465; ENSP00000444411; ENSG00000070601 [Q5SYB0-1]
GeneIDi22844
KEGGihsa:22844
UCSCiuc004aag.2 human [Q5SYB0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFRPD1_HUMAN
AccessioniPrimary (citable) accession number: Q5SYB0
Secondary accession number(s): B4DZC8
, B7Z807, D3DRQ3, Q14C73, Q5HY96, Q9Y2H3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 5, 2005
Last modified: April 25, 2018
This is version 112 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