UniProtKB - Q9P2Q2 (FRM4A_HUMAN)
FERM domain-containing protein 4A
FRMD4A
Functioni
Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity).
Plays a redundant role with FRMD4B in epithelial polarization (By similarity).
May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).
By similarity1 PublicationCaution
GO - Molecular functioni
- protein-macromolecule adaptor activity Source: Ensembl
GO - Biological processi
- establishment of epithelial cell polarity Source: Ensembl
- negative regulation of protein secretion Source: Ensembl
- positive regulation of protein secretion Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9P2Q2 |
SignaLinki | Q9P2Q2 |
Names & Taxonomyi
Protein namesi | Recommended name: FERM domain-containing protein 4A |
Gene namesi | |
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:25491, FRMD4A |
MIMi | 616305, gene |
neXtProti | NX_Q9P2Q2 |
VEuPathDBi | HostDB:ENSG00000151474 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Other locations
- adherens junction By similarity
- tight junction By similarity
Note: Colocalized with CYTH1 at adherens junction and tight junction. Colocalized with PARD3 during the process of epithelial polarization.By similarity
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Other locations
- adherens junction Source: GO_Central
- bicellular tight junction Source: GO_Central
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cytoplasm, Cytoskeleton, Tight junctionPathology & Biotechi
Involvement in diseasei
Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia (CCAFCA)1 Publication
Keywords - Diseasei
Mental retardationOrganism-specific databases
DisGeNETi | 55691 |
MalaCardsi | FRMD4A |
MIMi | 616819, phenotype |
OpenTargetsi | ENSG00000151474 |
Orphaneti | 466688, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
PharmGKBi | PA134946784 |
Miscellaneous databases
Pharosi | Q9P2Q2, Tbio |
Genetic variation databases
BioMutai | FRMD4A |
DMDMi | 205371790 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000219444 | 1 – 1039 | FERM domain-containing protein 4AAdd BLAST | 1039 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 530 | PhosphoserineCombined sources | 1 | |
Modified residuei | 604 | PhosphoserineCombined sources | 1 | |
Modified residuei | 615 | PhosphoserineCombined sources | 1 | |
Modified residuei | 681 | PhosphoserineCombined sources | 1 | |
Modified residuei | 711 | PhosphoserineBy similarity | 1 | |
Modified residuei | 800 | PhosphoserineCombined sources | 1 | |
Modified residuei | 872 | PhosphoserineCombined sources | 1 | |
Modified residuei | 901 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9P2Q2 |
jPOSTi | Q9P2Q2 |
MassIVEi | Q9P2Q2 |
MaxQBi | Q9P2Q2 |
PaxDbi | Q9P2Q2 |
PeptideAtlasi | Q9P2Q2 |
PRIDEi | Q9P2Q2 |
ProteomicsDBi | 83879 |
PTM databases
iPTMneti | Q9P2Q2 |
PhosphoSitePlusi | Q9P2Q2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000151474, Expressed in forebrain and 226 other tissues |
ExpressionAtlasi | Q9P2Q2, baseline and differential |
Genevisiblei | Q9P2Q2, HS |
Organism-specific databases
HPAi | ENSG00000151474, Tissue enhanced (adipose) |
Interactioni
Subunit structurei
Interacts (via coiled-coil domain) with CYTH1 (via coiled-coil domain).
Interacts with PARD3 (via coiled-coil domain).
Found in a complex with PARD3, CYTH1 and FRMD4A.
Interacts with CYTH2.
Interacts with CYTH3.
By similarityProtein-protein interaction databases
BioGRIDi | 120817, 13 interactors |
IntActi | Q9P2Q2, 8 interactors |
STRINGi | 9606.ENSP00000350032 |
Miscellaneous databases
RNActi | Q9P2Q2, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 20 – 322 | FERMPROSITE-ProRule annotationAdd BLAST | 303 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 358 – 420 | Necessary for interaction with CYTH1By similarityAdd BLAST | 63 | |
Regioni | 366 – 386 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 553 – 680 | DisorderedSequence analysisAdd BLAST | 128 | |
Regioni | 579 – 939 | Necessary for tight junction and adherens junction localization; Requires for interaction with PARD3By similarityAdd BLAST | 361 | |
Regioni | 713 – 756 | DisorderedSequence analysisAdd BLAST | 44 | |
Regioni | 772 – 813 | DisorderedSequence analysisAdd BLAST | 42 | |
Regioni | 879 – 968 | DisorderedSequence analysisAdd BLAST | 90 | |
Regioni | 980 – 1039 | DisorderedSequence analysisAdd BLAST | 60 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 382 – 416 | Sequence analysisAdd BLAST | 35 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 569 – 584 | Pro residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 593 – 607 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 634 – 676 | Polar residuesSequence analysisAdd BLAST | 43 | |
Compositional biasi | 788 – 802 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 933 – 947 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 948 – 968 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 983 – 1039 | Polar residuesSequence analysisAdd BLAST | 57 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3529, Eukaryota |
GeneTreei | ENSGT01020000230354 |
InParanoidi | Q9P2Q2 |
OMAi | XSQESDS |
OrthoDBi | 125121at2759 |
PhylomeDBi | Q9P2Q2 |
TreeFami | TF328984 |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd13191, FERM_C_FRMD4A_FRMD4B, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR021774, DUF3338 IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR041785, FRMD4A/B_FERM_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf |
Pfami | View protein in Pfam PF11819, CUPID, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit |
PRINTSi | PR00935, BAND41 |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM01196, FERM_C, 1 hit |
SUPFAMi | SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS00660, FERM_1, 1 hit PS00661, FERM_2, 1 hit PS50057, FERM_3, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 13 potential isoforms that are computationally mapped.Show allAlign All
10 20 30 40 50
MAVQLVPDSA LGLLMMTEGR RCQVHLLDDR KLELLVQPKL LAKELLDLVA
60 70 80 90 100
SHFNLKEKEY FGIAFTDETG HLNWLQLDRR VLEHDFPKKS GPVVLYFCVR
110 120 130 140 150
FYIESISYLK DNATIELFFL NAKSCIYKEL IDVDSEVVFE LASYILQEAK
160 170 180 190 200
GDFSSNEVVR SDLKKLPALP TQALKEHPSL AYCEDRVIEH YKKLNGQTRG
210 220 230 240 250
QAIVNYMSIV ESLPTYGVHY YAVKDKQGIP WWLGLSYKGI FQYDYHDKVK
260 270 280 290 300
PRKIFQWRQL ENLYFREKKF SVEVHDPRRA SVTRRTFGHS GIAVHTWYAC
310 320 330 340 350
PALIKSIWAM AISQHQFYLD RKQSKSKIHA ARSLSEIAID LTETGTLKTS
360 370 380 390 400
KLANMGSKGK IISGSSGSLL SSGSQESDSS QSAKKDMLAA LKSRQEALEE
410 420 430 440 450
TLRQRLEELK KLCLREAELT GKLPVEYPLD PGEEPPIVRR RIGTAFKLDE
460 470 480 490 500
QKILPKGEEA ELERLEREFA IQSQITEAAR RLASDPNVSK KLKKQRKTSY
510 520 530 540 550
LNALKKLQEI ENAINENRIK SGKKPTQRAS LIIDDGNIAS EDSSLSDALV
560 570 580 590 600
LEDEDSQVTS TISPLHSPHK GLPPRPPSHN RPPPPQSLEG LRQMHYHRND
610 620 630 640 650
YDKSPIKPKM WSESSLDEPY EKVKKRSSHS HSSSHKRFPS TGSCAEAGGG
660 670 680 690 700
SNSLQNSPIR GLPHWNSQSS MPSTPDLRVR SPHYVHSTRS VDISPTRLHS
710 720 730 740 750
LALHFRHRSS SLESQGKLLG SENDTGSPDF YTPRTRSSNG SDPMDDCSSC
760 770 780 790 800
TSHSSSEHYY PAQMNANYST LAEDSPSKAR QRQRQRQRAA GALGSASSGS
810 820 830 840 850
MPNLAARGGA GGAGGAGGGV YLHSQSQPSS QYRIKEYPLY IEGGATPVVV
860 870 880 890 900
RSLESDQEGH YSVKAQFKTS NSYTAGGLFK ESWRGGGGDE GDTGRLTPSR
910 920 930 940 950
SQILRTPSLG REGAHDKGAG RAAVSDELRQ WYQRSTASHK EHSRLSHTSS
960 970 980 990 1000
TSSDSGSQYS TSSQSTFVAH SRVTRMPQMC KATSAALPQS QRSSTPSSEI
1010 1020 1030
GATPPSSPHH ILTWQTGEAT ENSPILDGSE SPPHQSTDE
Computationally mapped potential isoform sequencesi
There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5T376 | Q5T376_HUMAN | FERM domain containing 4A, isoform ... | FRMD4A hCG_1811390 | 525 | Annotation score: | ||
A0A0J9YYA7 | A0A0J9YYA7_HUMAN | FERM domain-containing protein 4A | FRMD4A | 229 | Annotation score: | ||
A0A1W2PQE7 | A0A1W2PQE7_HUMAN | FERM domain-containing protein 4A | FRMD4A | 141 | Annotation score: | ||
A0A0J9YXB2 | A0A0J9YXB2_HUMAN | FERM domain-containing protein 4A | FRMD4A | 35 | Annotation score: | ||
S4R324 | S4R324_HUMAN | FERM domain-containing protein 4A | FRMD4A | 72 | Annotation score: | ||
S4R3Y6 | S4R3Y6_HUMAN | FERM domain-containing protein 4A | FRMD4A | 53 | Annotation score: | ||
A0A0J9YWI3 | A0A0J9YWI3_HUMAN | FERM domain-containing protein 4A | FRMD4A | 77 | Annotation score: | ||
A0A3B3ISB3 | A0A3B3ISB3_HUMAN | FERM domain-containing protein 4A | FRMD4A | 50 | Annotation score: | ||
A0A3B3IS86 | A0A3B3IS86_HUMAN | FERM domain-containing protein 4A | FRMD4A | 33 | Annotation score: | ||
A0A3B3ISM0 | A0A3B3ISM0_HUMAN | FERM domain-containing protein 4A | FRMD4A | 44 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 859 | G → C in BAA92532 (PubMed:10718198).Curated | 1 | |
Sequence conflicti | 859 | G → C in AAI51245 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048367 | 242 | Q → H. Corresponds to variant dbSNP:rs11258565Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB037715 mRNA Translation: BAA92532.1 Different initiation. AK289693 mRNA Translation: BAF82382.1 AC069025 Genomic DNA No translation available. AL157392 Genomic DNA No translation available. AL365495 Genomic DNA No translation available. BC151244 mRNA Translation: AAI51245.1 |
CCDSi | CCDS7101.1 |
RefSeqi | NP_001305265.1, NM_001318336.1 NP_001305266.1, NM_001318337.1 NP_001305267.1, NM_001318338.1 NP_060497.3, NM_018027.4 |
Genome annotation databases
Ensembli | ENST00000357447.7; ENSP00000350032.2; ENSG00000151474.23 |
GeneIDi | 55691 |
KEGGi | hsa:55691 |
MANE-Selecti | ENST00000357447.7; ENSP00000350032.2; NM_018027.5; NP_060497.3 |
UCSCi | uc001ims.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB037715 mRNA Translation: BAA92532.1 Different initiation. AK289693 mRNA Translation: BAF82382.1 AC069025 Genomic DNA No translation available. AL157392 Genomic DNA No translation available. AL365495 Genomic DNA No translation available. BC151244 mRNA Translation: AAI51245.1 |
CCDSi | CCDS7101.1 |
RefSeqi | NP_001305265.1, NM_001318336.1 NP_001305266.1, NM_001318337.1 NP_001305267.1, NM_001318338.1 NP_060497.3, NM_018027.4 |
3D structure databases
AlphaFoldDBi | Q9P2Q2 |
SMRi | Q9P2Q2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120817, 13 interactors |
IntActi | Q9P2Q2, 8 interactors |
STRINGi | 9606.ENSP00000350032 |
PTM databases
iPTMneti | Q9P2Q2 |
PhosphoSitePlusi | Q9P2Q2 |
Genetic variation databases
BioMutai | FRMD4A |
DMDMi | 205371790 |
Proteomic databases
EPDi | Q9P2Q2 |
jPOSTi | Q9P2Q2 |
MassIVEi | Q9P2Q2 |
MaxQBi | Q9P2Q2 |
PaxDbi | Q9P2Q2 |
PeptideAtlasi | Q9P2Q2 |
PRIDEi | Q9P2Q2 |
ProteomicsDBi | 83879 |
Protocols and materials databases
Antibodypediai | 50861, 46 antibodies from 10 providers |
DNASUi | 55691 |
Genome annotation databases
Ensembli | ENST00000357447.7; ENSP00000350032.2; ENSG00000151474.23 |
GeneIDi | 55691 |
KEGGi | hsa:55691 |
MANE-Selecti | ENST00000357447.7; ENSP00000350032.2; NM_018027.5; NP_060497.3 |
UCSCi | uc001ims.4, human |
Organism-specific databases
CTDi | 55691 |
DisGeNETi | 55691 |
GeneCardsi | FRMD4A |
HGNCi | HGNC:25491, FRMD4A |
HPAi | ENSG00000151474, Tissue enhanced (adipose) |
MalaCardsi | FRMD4A |
MIMi | 616305, gene 616819, phenotype |
neXtProti | NX_Q9P2Q2 |
OpenTargetsi | ENSG00000151474 |
Orphaneti | 466688, Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome |
PharmGKBi | PA134946784 |
VEuPathDBi | HostDB:ENSG00000151474 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3529, Eukaryota |
GeneTreei | ENSGT01020000230354 |
InParanoidi | Q9P2Q2 |
OMAi | XSQESDS |
OrthoDBi | 125121at2759 |
PhylomeDBi | Q9P2Q2 |
TreeFami | TF328984 |
Enzyme and pathway databases
PathwayCommonsi | Q9P2Q2 |
SignaLinki | Q9P2Q2 |
Miscellaneous databases
BioGRID-ORCSi | 55691, 5 hits in 1076 CRISPR screens |
ChiTaRSi | FRMD4A, human |
GenomeRNAii | 55691 |
Pharosi | Q9P2Q2, Tbio |
PROi | PR:Q9P2Q2 |
RNActi | Q9P2Q2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000151474, Expressed in forebrain and 226 other tissues |
ExpressionAtlasi | Q9P2Q2, baseline and differential |
Genevisiblei | Q9P2Q2, HS |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd13191, FERM_C_FRMD4A_FRMD4B, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR021774, DUF3338 IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR041785, FRMD4A/B_FERM_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf |
Pfami | View protein in Pfam PF11819, CUPID, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit |
PRINTSi | PR00935, BAND41 |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM01196, FERM_C, 1 hit |
SUPFAMi | SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS00660, FERM_1, 1 hit PS00661, FERM_2, 1 hit PS50057, FERM_3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FRM4A_HUMAN | |
Accessioni | Q9P2Q2Primary (citable) accession number: Q9P2Q2 Secondary accession number(s): A7E2Y3, Q5T377 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2001 |
Last sequence update: | September 2, 2008 | |
Last modified: | May 25, 2022 | |
This is version 162 of the entry and version 3 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot