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Protein

Phosphatase and actin regulator 1

Gene

PHACTR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Binds actin monomers (G actin) and plays a role in the reorganization of the actin cytoskeleton and in formation of actin stress fibers. Plays a role in cell motility. Plays a role in the formation of tubules by endothelial cells. Regulates PPP1CA activity. Required for normal cell survival.2 Publications

GO - Molecular functioni

GO - Biological processi

  • actin cytoskeleton reorganization Source: UniProtKB
  • actomyosin structure organization Source: UniProtKB
  • cell motility Source: UniProtKB
  • stress fiber assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Protein phosphatase inhibitor

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatase and actin regulator 1
Gene namesi
Name:PHACTR1
Synonyms:KIAA1733, RPEL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:20990. PHACTR1.

Subcellular locationi

  • Cytoplasm By similarity
  • Cell junctionsynapse By similarity
  • Nucleus By similarity

  • Note: Enriched at synapses (By similarity). Cytoplasmic in resting cells, and is imported into the nucleus upon serum stimulation. Interaction with actin prevents nuclear import (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cytoplasm, Nucleus, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi221692.
OpenTargetsiENSG00000112137.
ENSG00000282833.
PharmGKBiPA134923900.

Polymorphism and mutation databases

BioMutaiPHACTR1.
DMDMi97536946.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001266341 – 580Phosphatase and actin regulator 1Add BLAST580

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei67PhosphoserineBy similarity1
Modified residuei78PhosphoserineBy similarity1
Modified residuei104PhosphothreonineBy similarity1
Modified residuei467PhosphoserineCombined sources1
Modified residuei505PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9C0D0.
MaxQBiQ9C0D0.
PaxDbiQ9C0D0.
PeptideAtlasiQ9C0D0.
PRIDEiQ9C0D0.
TopDownProteomicsiQ9C0D0-2. [Q9C0D0-2]

PTM databases

iPTMnetiQ9C0D0.
PhosphoSitePlusiQ9C0D0.

Expressioni

Tissue specificityi

Detected in umbilical vein endothelial cells.1 Publication

Inductioni

Up-regulated by VEGFA.2 Publications

Gene expression databases

BgeeiENSG00000112137.
CleanExiHS_PHACTR1.
ExpressionAtlasiQ9C0D0. baseline and differential.
GenevisibleiQ9C0D0. HS.

Organism-specific databases

HPAiHPA029755.
HPA029756.
HPA029757.

Interactioni

Subunit structurei

Interacts (via RPEL repeats) with ACTA1 and PPP1CA; ACTA1 and PPP1CA compete for the same binding site.

GO - Molecular functioni

Protein-protein interaction databases

BioGridi128746. 3 interactors.
IntActiQ9C0D0. 1 interactor.
MINTiMINT-6781379.
STRINGi9606.ENSP00000329880.

Structurei

3D structure databases

ProteinModelPortaliQ9C0D0.
SMRiQ9C0D0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati138 – 163RPEL 1Add BLAST26
Repeati422 – 447RPEL 2Add BLAST26
Repeati460 – 484RPEL 3Add BLAST25
Repeati498 – 523RPEL 4Add BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi108 – 129Nuclear localization signalBy similarityAdd BLAST22

Domaini

Binds three actin monomers via the three C-terminal RPEL repeats.By similarity

Sequence similaritiesi

Contains 4 RPEL repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IMQP. Eukaryota.
ENOG411029R. LUCA.
GeneTreeiENSGT00390000004420.
HOGENOMiHOG000220879.
HOVERGENiHBG057352.
InParanoidiQ9C0D0.
OMAiSCRMIDE.
OrthoDBiEOG091G0HBF.
PhylomeDBiQ9C0D0.

Family and domain databases

InterProiIPR029987. Phactr1.
IPR004018. RPEL_repeat.
[Graphical view]
PANTHERiPTHR12751:SF6. PTHR12751:SF6. 1 hit.
PfamiPF02755. RPEL. 4 hits.
[Graphical view]
SMARTiSM00707. RPEL. 4 hits.
[Graphical view]
PROSITEiPS51073. RPEL. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9C0D0-1) [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
MDYPKMDYFL DVESAHRLLD VESAQRFFYS QGAQARRATL LLPPTLMAAS
60 70 80 90 100
SEDDIDRRPI RRVRSKSDTP YLAEARISFN LGAAEEVERL AAMRSDSLVP
110 120 130 140 150
GTHTPPIRRR SKFANLGRIF KPWKWRKKKS EKFKHTSAAL ERKISMRQSR
160 170 180 190 200
EELIKRGVLK EIYDKDGELS ISNEEDSLEN GQSLSSSQLS LPALSEMEPV
210 220 230 240 250
PMPRDPCSYE VLQPSDIMDG PDPGAPVKLP CLPVKLSPPL PPKKVMICMP
260 270 280 290 300
VGGPDLSLVS YTAQKSGQQG VAQHHHTVLP SQIQHQLQYG SHGQHLPSTT
310 320 330 340 350
GSLPMHPSGC RMIDELNKTL AMTMQRLESS EQRVPCSTSY HSSGLHSGDG
360 370 380 390 400
VTKAGPMGLP EIRQVPTVVI ECDDNKENVP HESDYEDSSC LYTREEEEEE
410 420 430 440 450
EDEDDDSSLY TSSLAMKVCR KDSLAIKLSN RPSKRELEEK NILPRQTDEE
460 470 480 490 500
RLELRQQIGT KLTRRLSQRP TAEELEQRNI LKPRNEQEEQ EEKREIKRRL
510 520 530 540 550
TRKLSQRPTV EELRERKILI RFSDYVEVAD AQDYDRRADK PWTRLTAADK
560 570 580
AAIRKELNEF KSTEMEVHEL SRHLTRFHRP
Length:580
Mass (Da):66,308
Last modified:May 16, 2006 - v3
Checksum:i5111973836BBEA39
GO
Isoform 2 (identifier: Q9C0D0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     483-484: PR → RK
     485-580: Missing.

Note: No experimental confirmation available.
Show »
Length:484
Mass (Da):54,608
Checksum:i073BD94AB00339F5
GO

Sequence cautioni

The sequence BAB21824 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053645247I → M.Corresponds to variant rs17602409dbSNPEnsembl.1
Natural variantiVAR_069379521R → C Found in a patient with mental retardation, seizures, severely delayed psychomotor development, spastic tetraparesis, joint contractures and scoliosis. 1 PublicationCorresponds to variant rs748743403dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_018529483 – 484PR → RK in isoform 2. 1 Publication2
Alternative sequenceiVSP_018530485 – 580Missing in isoform 2. 1 PublicationAdd BLAST96

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051520 mRNA. Translation: BAB21824.1. Different initiation.
AK090769 mRNA. Translation: BAG52223.1.
AK290017 mRNA. Translation: BAF82706.1.
Z99495
, AL391385, AL008729, AL354680, AL591682 Genomic DNA. Translation: CAI20986.1.
AL591682
, Z99495, AL391385, AL354680, AL008729 Genomic DNA. Translation: CAI40399.1.
AL354680
, AL008729, AL391385, Z99495, AL591682 Genomic DNA. Translation: CAI41067.1.
AL008729
, Z99495, AL591682, AL391385, AL354680 Genomic DNA. Translation: CAI95669.1.
BC101526 mRNA. Translation: AAI01527.1.
BC101528 mRNA. Translation: AAI01529.1.
CCDSiCCDS75401.1. [Q9C0D0-1]
RefSeqiNP_001229577.1. NM_001242648.2. [Q9C0D0-1]
NP_001309237.1. NM_001322308.1. [Q9C0D0-1]
NP_001309238.1. NM_001322309.1. [Q9C0D0-1]
NP_001309239.1. NM_001322310.1.
NP_001309240.1. NM_001322311.1.
NP_001309241.1. NM_001322312.1.
NP_001309242.1. NM_001322313.1.
NP_001309243.1. NM_001322314.1.
NP_112210.1. NM_030948.3. [Q9C0D0-1]
UniGeneiHs.436996.

Genome annotation databases

EnsembliENST00000332995; ENSP00000329880; ENSG00000112137. [Q9C0D0-1]
ENST00000379350; ENSP00000368655; ENSG00000112137. [Q9C0D0-2]
ENST00000634438; ENSP00000489436; ENSG00000282833. [Q9C0D0-1]
ENST00000635308; ENSP00000489293; ENSG00000282833. [Q9C0D0-2]
GeneIDi221692.
KEGGihsa:221692.
UCSCiuc003nag.3. human. [Q9C0D0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051520 mRNA. Translation: BAB21824.1. Different initiation.
AK090769 mRNA. Translation: BAG52223.1.
AK290017 mRNA. Translation: BAF82706.1.
Z99495
, AL391385, AL008729, AL354680, AL591682 Genomic DNA. Translation: CAI20986.1.
AL591682
, Z99495, AL391385, AL354680, AL008729 Genomic DNA. Translation: CAI40399.1.
AL354680
, AL008729, AL391385, Z99495, AL591682 Genomic DNA. Translation: CAI41067.1.
AL008729
, Z99495, AL591682, AL391385, AL354680 Genomic DNA. Translation: CAI95669.1.
BC101526 mRNA. Translation: AAI01527.1.
BC101528 mRNA. Translation: AAI01529.1.
CCDSiCCDS75401.1. [Q9C0D0-1]
RefSeqiNP_001229577.1. NM_001242648.2. [Q9C0D0-1]
NP_001309237.1. NM_001322308.1. [Q9C0D0-1]
NP_001309238.1. NM_001322309.1. [Q9C0D0-1]
NP_001309239.1. NM_001322310.1.
NP_001309240.1. NM_001322311.1.
NP_001309241.1. NM_001322312.1.
NP_001309242.1. NM_001322313.1.
NP_001309243.1. NM_001322314.1.
NP_112210.1. NM_030948.3. [Q9C0D0-1]
UniGeneiHs.436996.

3D structure databases

ProteinModelPortaliQ9C0D0.
SMRiQ9C0D0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128746. 3 interactors.
IntActiQ9C0D0. 1 interactor.
MINTiMINT-6781379.
STRINGi9606.ENSP00000329880.

PTM databases

iPTMnetiQ9C0D0.
PhosphoSitePlusiQ9C0D0.

Polymorphism and mutation databases

BioMutaiPHACTR1.
DMDMi97536946.

Proteomic databases

EPDiQ9C0D0.
MaxQBiQ9C0D0.
PaxDbiQ9C0D0.
PeptideAtlasiQ9C0D0.
PRIDEiQ9C0D0.
TopDownProteomicsiQ9C0D0-2. [Q9C0D0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332995; ENSP00000329880; ENSG00000112137. [Q9C0D0-1]
ENST00000379350; ENSP00000368655; ENSG00000112137. [Q9C0D0-2]
ENST00000634438; ENSP00000489436; ENSG00000282833. [Q9C0D0-1]
ENST00000635308; ENSP00000489293; ENSG00000282833. [Q9C0D0-2]
GeneIDi221692.
KEGGihsa:221692.
UCSCiuc003nag.3. human. [Q9C0D0-1]

Organism-specific databases

CTDi221692.
DisGeNETi221692.
GeneCardsiPHACTR1.
H-InvDBHIX0019503.
HGNCiHGNC:20990. PHACTR1.
HPAiHPA029755.
HPA029756.
HPA029757.
MIMi608723. gene.
neXtProtiNX_Q9C0D0.
OpenTargetsiENSG00000112137.
ENSG00000282833.
PharmGKBiPA134923900.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IMQP. Eukaryota.
ENOG411029R. LUCA.
GeneTreeiENSGT00390000004420.
HOGENOMiHOG000220879.
HOVERGENiHBG057352.
InParanoidiQ9C0D0.
OMAiSCRMIDE.
OrthoDBiEOG091G0HBF.
PhylomeDBiQ9C0D0.

Miscellaneous databases

ChiTaRSiPHACTR1. human.
GenomeRNAii221692.
PROiQ9C0D0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112137.
CleanExiHS_PHACTR1.
ExpressionAtlasiQ9C0D0. baseline and differential.
GenevisibleiQ9C0D0. HS.

Family and domain databases

InterProiIPR029987. Phactr1.
IPR004018. RPEL_repeat.
[Graphical view]
PANTHERiPTHR12751:SF6. PTHR12751:SF6. 1 hit.
PfamiPF02755. RPEL. 4 hits.
[Graphical view]
SMARTiSM00707. RPEL. 4 hits.
[Graphical view]
PROSITEiPS51073. RPEL. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPHAR1_HUMAN
AccessioniPrimary (citable) accession number: Q9C0D0
Secondary accession number(s): A8K1V2, Q3MJ93, Q5JSJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 16, 2006
Last modified: November 2, 2016
This is version 110 of the entry and version 3 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.