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Q9C0D0

- PHAR1_HUMAN

UniProt

Q9C0D0 - PHAR1_HUMAN

Protein

Phosphatase and actin regulator 1

Gene

PHACTR1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 3 (16 May 2006)
      Previous versions | rss
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    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

    1. actin binding Source: UniProtKB
    2. protein phosphatase inhibitor activity Source: UniProtKB-KW

    GO - Biological processi

    1. actin cytoskeleton reorganization Source: UniProtKB
    2. actomyosin structure organization Source: UniProtKB
    3. cell motility Source: UniProtKB
    4. stress fiber assembly Source: UniProtKB

    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
    ProteomesiUP000005640: 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

    1. cell junction Source: UniProtKB-KW
    2. cytosol Source: UniProtKB
    3. nucleus Source: UniProtKB
    4. synapse Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell junction, Cytoplasm, Nucleus, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134923900.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 580580Phosphatase and actin regulator 1PRO_0000126634Add
    BLAST

    Proteomic databases

    PaxDbiQ9C0D0.
    PRIDEiQ9C0D0.

    PTM databases

    PhosphoSiteiQ9C0D0.

    Expressioni

    Tissue specificityi

    Detected in umbilical vein endothelial cells.1 Publication

    Inductioni

    Up-regulated by VEGFA.2 Publications

    Gene expression databases

    ArrayExpressiQ9C0D0.
    BgeeiQ9C0D0.
    CleanExiHS_PHACTR1.
    GenevestigatoriQ9C0D0.

    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.

    Protein-protein interaction databases

    BioGridi128746. 3 interactions.
    IntActiQ9C0D0. 1 interaction.
    MINTiMINT-6781379.
    STRINGi9606.ENSP00000397669.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9C0D0.
    SMRiQ9C0D0. Positions 133-162, 419-560.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati138 – 16326RPEL 1Add
    BLAST
    Repeati422 – 44726RPEL 2Add
    BLAST
    Repeati460 – 48425RPEL 3Add
    BLAST
    Repeati498 – 52326RPEL 4Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi108 – 12922Nuclear localization signalBy similarityAdd
    BLAST

    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

    eggNOGiNOG275065.
    HOGENOMiHOG000220879.
    HOVERGENiHBG057352.
    InParanoidiQ9C0D0.
    PhylomeDBiQ9C0D0.

    Family and domain databases

    InterProiIPR004018. RPEL_repeat.
    [Graphical view]
    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. Align

    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

    MDYPKMDYFL DVESAHRLLD VESAQRFFYS QGAQARRATL LLPPTLMAAS    50
    SEDDIDRRPI RRVRSKSDTP YLAEARISFN LGAAEEVERL AAMRSDSLVP 100
    GTHTPPIRRR SKFANLGRIF KPWKWRKKKS EKFKHTSAAL ERKISMRQSR 150
    EELIKRGVLK EIYDKDGELS ISNEEDSLEN GQSLSSSQLS LPALSEMEPV 200
    PMPRDPCSYE VLQPSDIMDG PDPGAPVKLP CLPVKLSPPL PPKKVMICMP 250
    VGGPDLSLVS YTAQKSGQQG VAQHHHTVLP SQIQHQLQYG SHGQHLPSTT 300
    GSLPMHPSGC RMIDELNKTL AMTMQRLESS EQRVPCSTSY HSSGLHSGDG 350
    VTKAGPMGLP EIRQVPTVVI ECDDNKENVP HESDYEDSSC LYTREEEEEE 400
    EDEDDDSSLY TSSLAMKVCR KDSLAIKLSN RPSKRELEEK NILPRQTDEE 450
    RLELRQQIGT KLTRRLSQRP TAEELEQRNI LKPRNEQEEQ EEKREIKRRL 500
    TRKLSQRPTV EELRERKILI RFSDYVEVAD AQDYDRRADK PWTRLTAADK 550
    AAIRKELNEF KSTEMEVHEL SRHLTRFHRP 580
    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 BAB21824.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti247 – 2471I → M.
    Corresponds to variant rs17602409 [ dbSNP | Ensembl ].
    VAR_053645
    Natural varianti521 – 5211R → C Found in a patient with mental retardation, seizures, severely delayed psychomotor development, spastic tetraparesis, joint contractures and scoliosis. 1 Publication
    VAR_069379

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei483 – 4842PR → RK in isoform 2. 1 PublicationVSP_018529
    Alternative sequencei485 – 58096Missing in isoform 2. 1 PublicationVSP_018530Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    RefSeqiNP_001229577.1. NM_001242648.1. [Q9C0D0-1]
    NP_112210.1. NM_030948.2. [Q9C0D0-1]
    UniGeneiHs.436996.

    Genome annotation databases

    EnsembliENST00000379350; ENSP00000368655; ENSG00000112137. [Q9C0D0-2]
    GeneIDi221692.
    KEGGihsa:221692.
    UCSCiuc003nag.2. human. [Q9C0D0-2]
    uc003nah.2. human. [Q9C0D0-1]

    Polymorphism databases

    DMDMi97536946.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    RefSeqi NP_001229577.1. NM_001242648.1. [Q9C0D0-1 ]
    NP_112210.1. NM_030948.2. [Q9C0D0-1 ]
    UniGenei Hs.436996.

    3D structure databases

    ProteinModelPortali Q9C0D0.
    SMRi Q9C0D0. Positions 133-162, 419-560.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128746. 3 interactions.
    IntActi Q9C0D0. 1 interaction.
    MINTi MINT-6781379.
    STRINGi 9606.ENSP00000397669.

    PTM databases

    PhosphoSitei Q9C0D0.

    Polymorphism databases

    DMDMi 97536946.

    Proteomic databases

    PaxDbi Q9C0D0.
    PRIDEi Q9C0D0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000379350 ; ENSP00000368655 ; ENSG00000112137 . [Q9C0D0-2 ]
    GeneIDi 221692.
    KEGGi hsa:221692.
    UCSCi uc003nag.2. human. [Q9C0D0-2 ]
    uc003nah.2. human. [Q9C0D0-1 ]

    Organism-specific databases

    CTDi 221692.
    GeneCardsi GC06P012717.
    H-InvDB HIX0019503.
    HGNCi HGNC:20990. PHACTR1.
    HPAi HPA029755.
    HPA029756.
    HPA029757.
    MIMi 608723. gene.
    neXtProti NX_Q9C0D0.
    PharmGKBi PA134923900.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG275065.
    HOGENOMi HOG000220879.
    HOVERGENi HBG057352.
    InParanoidi Q9C0D0.
    PhylomeDBi Q9C0D0.

    Miscellaneous databases

    GenomeRNAii 221692.
    NextBioi 91417.
    PROi Q9C0D0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9C0D0.
    Bgeei Q9C0D0.
    CleanExi HS_PHACTR1.
    Genevestigatori Q9C0D0.

    Family and domain databases

    InterProi IPR004018. RPEL_repeat.
    [Graphical view ]
    Pfami PF02755. RPEL. 4 hits.
    [Graphical view ]
    SMARTi SM00707. RPEL. 4 hits.
    [Graphical view ]
    PROSITEi PS51073. RPEL. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. Cited for: VARIANT CYS-521.

    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: October 1, 2014
    This is version 93 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

    External Data

    Dasty 3