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Q9C0D0 (PHAR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphatase and actin regulator 1
Gene names
Name:PHACTR1
Synonyms:KIAA1733, RPEL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length580 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.5 Ref.6

Subunit structure

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

Subcellular location

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.

Tissue specificity

Detected in umbilical vein endothelial cells. Ref.6

Induction

Up-regulated by VEGFA. Ref.5 Ref.6

Domain

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

Sequence similarities

Belongs to the phosphatase and actin regulator family.

Contains 4 RPEL repeats.

Sequence caution

The sequence BAB21824.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9C0D0-1)

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.
Isoform 2 (identifier: Q9C0D0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     483-484: PR → RK
     485-580: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 580580Phosphatase and actin regulator 1
PRO_0000126634

Regions

Repeat138 – 16326RPEL 1
Repeat422 – 44726RPEL 2
Repeat460 – 48425RPEL 3
Repeat498 – 52326RPEL 4
Motif108 – 12922Nuclear localization signal By similarity

Natural variations

Alternative sequence483 – 4842PR → RK in isoform 2.
VSP_018529
Alternative sequence485 – 58096Missing in isoform 2.
VSP_018530
Natural variant2471I → M.
Corresponds to variant rs17602409 [ dbSNP | Ensembl ].
VAR_053645
Natural variant5211R → C Found in a patient with mental retardation, seizures, severely delayed psychomotor development, spastic tetraparesis, joint contractures and scoliosis. Ref.7
VAR_069379

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 16, 2006. Version 3.
Checksum: 5111973836BBEA39

FASTA58066,308
        10         20         30         40         50         60 
MDYPKMDYFL DVESAHRLLD VESAQRFFYS QGAQARRATL LLPPTLMAAS SEDDIDRRPI 

        70         80         90        100        110        120 
RRVRSKSDTP YLAEARISFN LGAAEEVERL AAMRSDSLVP GTHTPPIRRR SKFANLGRIF 

       130        140        150        160        170        180 
KPWKWRKKKS EKFKHTSAAL ERKISMRQSR EELIKRGVLK EIYDKDGELS ISNEEDSLEN 

       190        200        210        220        230        240 
GQSLSSSQLS LPALSEMEPV PMPRDPCSYE VLQPSDIMDG PDPGAPVKLP CLPVKLSPPL 

       250        260        270        280        290        300 
PPKKVMICMP VGGPDLSLVS YTAQKSGQQG VAQHHHTVLP SQIQHQLQYG SHGQHLPSTT 

       310        320        330        340        350        360 
GSLPMHPSGC RMIDELNKTL AMTMQRLESS EQRVPCSTSY HSSGLHSGDG VTKAGPMGLP 

       370        380        390        400        410        420 
EIRQVPTVVI ECDDNKENVP HESDYEDSSC LYTREEEEEE EDEDDDSSLY TSSLAMKVCR 

       430        440        450        460        470        480 
KDSLAIKLSN RPSKRELEEK NILPRQTDEE RLELRQQIGT KLTRRLSQRP TAEELEQRNI 

       490        500        510        520        530        540 
LKPRNEQEEQ EEKREIKRRL TRKLSQRPTV EELRERKILI RFSDYVEVAD AQDYDRRADK 

       550        560        570        580 
PWTRLTAADK AAIRKELNEF KSTEMEVHEL SRHLTRFHRP 

« Hide

Isoform 2 [UniParc].

Checksum: 073BD94AB00339F5
Show »

FASTA48454,608

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Amygdala and Hippocampus.
[3]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[5]"Depletion of the novel protein PHACTR-1 from human endothelial cells abolishes tube formation and induces cell death receptor apoptosis."
Jarray R., Allain B., Borriello L., Biard D., Loukaci A., Larghero J., Hadj-Slimane R., Garbay C., Lepelletier Y., Raynaud F.
Biochimie 93:1668-1675(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INDUCTION.
[6]"Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells."
Allain B., Jarray R., Borriello L., Leforban B., Dufour S., Liu W.Q., Pamonsinlapatham P., Bianco S., Larghero J., Hadj-Slimane R., Garbay C., Raynaud F., Lepelletier Y.
Cell. Signal. 24:214-223(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY, INDUCTION.
[7]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CYS-521.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB051520 mRNA. Translation: BAB21824.1. Different initiation.
AK090769 mRNA. Translation: BAG52223.1.
AK290017 mRNA. Translation: BAF82706.1.
Z99495 expand/collapse EMBL AC list , AL391385, AL008729, AL354680, AL591682 Genomic DNA. Translation: CAI20986.1.
AL591682 expand/collapse EMBL AC list , Z99495, AL391385, AL354680, AL008729 Genomic DNA. Translation: CAI40399.1.
AL354680 expand/collapse EMBL AC list , AL008729, AL391385, Z99495, AL591682 Genomic DNA. Translation: CAI41067.1.
AL008729 expand/collapse EMBL AC list , Z99495, AL591682, AL391385, AL354680 Genomic DNA. Translation: CAI95669.1.
BC101526 mRNA. Translation: AAI01527.1.
BC101528 mRNA. Translation: AAI01529.1.
RefSeqNP_001229577.1. NM_001242648.1.
NP_112210.1. NM_030948.2.
UniGeneHs.436996.

3D structure databases

ProteinModelPortalQ9C0D0.
SMRQ9C0D0. Positions 133-162, 419-560.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128746. 3 interactions.
IntActQ9C0D0. 1 interaction.
MINTMINT-6781379.
STRING9606.ENSP00000397669.

PTM databases

PhosphoSiteQ9C0D0.

Polymorphism databases

DMDM97536946.

Proteomic databases

PaxDbQ9C0D0.
PRIDEQ9C0D0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000379350; ENSP00000368655; ENSG00000112137. [Q9C0D0-2]
GeneID221692.
KEGGhsa:221692.
UCSCuc003nag.2. human. [Q9C0D0-2]
uc003nah.2. human. [Q9C0D0-1]

Organism-specific databases

CTD221692.
GeneCardsGC06P012717.
H-InvDBHIX0019503.
HGNCHGNC:20990. PHACTR1.
HPAHPA029755.
HPA029756.
HPA029757.
MIM608723. gene.
neXtProtNX_Q9C0D0.
PharmGKBPA134923900.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG275065.
HOGENOMHOG000220879.
HOVERGENHBG057352.
InParanoidQ9C0D0.
PhylomeDBQ9C0D0.

Gene expression databases

ArrayExpressQ9C0D0.
BgeeQ9C0D0.
CleanExHS_PHACTR1.
GenevestigatorQ9C0D0.

Family and domain databases

InterProIPR004018. RPEL_repeat.
[Graphical view]
PfamPF02755. RPEL. 4 hits.
[Graphical view]
SMARTSM00707. RPEL. 4 hits.
[Graphical view]
PROSITEPS51073. RPEL. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi221692.
NextBio91417.
PROQ9C0D0.
SOURCESearch...

Entry information

Entry namePHAR1_HUMAN
AccessionPrimary (citable) accession number: Q9C0D0
Secondary accession number(s): A8K1V2, Q3MJ93, Q5JSJ2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 16, 2006
Last modified: April 16, 2014
This is version 91 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM