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Q7L099

- RUFY3_HUMAN

UniProt

Q7L099 - RUFY3_HUMAN

Protein

Protein RUFY3

Gene

RUFY3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Functioni

    Implicated in the formation of a single axon by developing neurons. May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes By similarity.By similarity

    GO - Biological processi

    1. negative regulation of axonogenesis Source: HGNC

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein RUFY3
    Alternative name(s):
    Rap2-interacting protein x
    Short name:
    RIPx
    Single axon-regulated protein
    Short name:
    Singar
    Gene namesi
    Name:RUFY3
    Synonyms:KIAA0871
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:30285. RUFY3.

    Subcellular locationi

    Cell projection By similarity
    Note: Enriched in F-actin enriched filopodia and lamellipodia of growth cones of axons and minor processes of hippocampal neurons in culture.By similarity

    GO - Cellular componenti

    1. filopodium Source: HGNC
    2. growth cone Source: HGNC

    Keywords - Cellular componenti

    Cell projection

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670961.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 469469Protein RUFY3PRO_0000245833Add
    BLAST

    Post-translational modificationi

    Isoform 1 is partially phosphorylated.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ7L099.
    PaxDbiQ7L099.
    PRIDEiQ7L099.

    PTM databases

    PhosphoSiteiQ7L099.

    Expressioni

    Gene expression databases

    ArrayExpressiQ7L099.
    BgeeiQ7L099.
    CleanExiHS_RUFY3.
    GenevestigatoriQ7L099.

    Organism-specific databases

    HPAiHPA022952.
    HPA022970.

    Interactioni

    Subunit structurei

    Interacts with PIK3CA and PIK3R1.By similarity

    Protein-protein interaction databases

    BioGridi116566. 3 interactions.
    IntActiQ7L099. 3 interactions.
    MINTiMINT-1373309.
    STRINGi9606.ENSP00000370394.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7L099.
    SMRiQ7L099. Positions 65-231.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini95 – 227133RUNPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili267 – 464198Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 RUN domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG270133.
    HOGENOMiHOG000030913.
    HOVERGENiHBG057053.
    OMAiYYSANIA.
    OrthoDBiEOG722J98.
    PhylomeDBiQ7L099.
    TreeFamiTF323904.

    Family and domain databases

    InterProiIPR004012. Run.
    [Graphical view]
    PfamiPF02759. RUN. 1 hit.
    [Graphical view]
    SMARTiSM00593. RUN. 1 hit.
    [Graphical view]
    PROSITEiPS50826. RUN. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q7L099-1) [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

    MSALTPPTDM PTPTTDKITQ AAMETIYLCK FRVSMDGEWL CLRELDDISL    50
    TPDPEPTHED PNYLMANERM NLMNMAKLSI KGLIESALNL GRTLDSDYAP 100
    LQQFFVVMEH CLKHGLKAKK TFLGQNKSFW GPLELVEKLV PEAAEITASV 150
    KDLPGLKTPV GRGRAWLRLA LMQKKLSEYM KALINKKELL SEFYEPNALM 200
    MEEEGAIIAG LLVGLNVIDA NFCMKGEDLD SQVGVIDFSM YLKDGNSSKG 250
    TEGDGQITAI LDQKNYVEEL NRHLNATVNN LQAKVDALEK SNTKLTEELA 300
    VANNRIITLQ EEMERVKEES SYILESNRKG PKQDRTAEGQ ALSEARKHLK 350
    EETQLRLDVE KELEMQISMR QEMELAMKML EKDVCEKQDA LVSLRQQLDD 400
    LRALKHELAF KLQSSDLGVK QKSELNSRLE EKTNQMAATI KQLEQSEKDL 450
    VKQAKTLNSA ANKLIPKHH 469
    Length:469
    Mass (Da):52,965
    Last modified:July 5, 2004 - v1
    Checksum:iE8657DF068BE4113
    GO
    Isoform 2 (identifier: Q7L099-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-60: MSALTPPTDM...TPDPEPTHED → MAETPPPPTA...GGSSGSGKHH
         446-446: S → R
         447-469: Missing.

    Note: Ref.5 (AAF17208) sequence has a frameshift in position 116.

    Show »
    Length:506
    Mass (Da):55,875
    Checksum:i2721E1192CB440AB
    GO
    Isoform 3 (identifier: Q7L099-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         446-469: SEKDLVKQAKTLNSAANKLIPKHH → RLRQAERSRQ...LMKQYSTSPS

    Show »
    Length:620
    Mass (Da):70,610
    Checksum:iD703020DE174DB6D
    GO
    Isoform 4 (identifier: Q7L099-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-53: Missing.
         54-58: PEPTH → MRDDT
         446-469: SEKDLVKQAKTLNSAANKLIPKHH → RLRQAERSRQ...LMKQYSTSPS

    Show »
    Length:567
    Mass (Da):64,721
    Checksum:i51B372D53E50F9A3
    GO

    Sequence cautioni

    The sequence BAA74894.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti151 – 1511K → R in AAF17208. 1 PublicationCurated
    Sequence conflicti357 – 3571L → S in BAG63879. (PubMed:14702039)Curated
    Isoform 4 (identifier: Q7L099-4)
    Sequence conflicti304 – 3041L → S in BAG63879. (PubMed:14702039)Curated
    Sequence conflicti431 – 4311R → G in BAG63879. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6060MSALT…PTHED → MAETPPPPTAGAESCSEEPA RGGEWRPEEPRRAPAGGTDR EGEAGPPPASPAGQSEPDSP VAAPFFLLYPGDGGAGFGVR PPPQQQRSWRTPPSPGSPLP FLLLSYPSGGGGSSGSGKHH in isoform 2. 1 PublicationVSP_041250Add
    BLAST
    Alternative sequencei1 – 5353Missing in isoform 4. 1 PublicationVSP_041251Add
    BLAST
    Alternative sequencei54 – 585PEPTH → MRDDT in isoform 4. 1 PublicationVSP_041252
    Alternative sequencei446 – 46924SEKDL…IPKHH → RLRQAERSRQSAELDNRLFK QDFGDKINSLQLEVEELTRQ RNQLELELKQEKERRLQNDR SIPGRGSQKSESKMDGKHKM QEENVKLKKPLEESHRLQPH PMDEQDQLLLSEKPQLCQLC QEDGSLTKNVCKNCSGTFCD ACSTNELPLPSSIKLERVCN PCHKHLMKQYSTSPS in isoform 3 and isoform 4. 1 PublicationVSP_041253Add
    BLAST
    Alternative sequencei446 – 4461S → R in isoform 2. 1 PublicationVSP_041254
    Alternative sequencei447 – 46923Missing in isoform 2. 1 PublicationVSP_041255Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020678 mRNA. Translation: BAA74894.2. Different initiation.
    AK000911 mRNA. Translation: BAG50837.1.
    AK302637 mRNA. Translation: BAG63879.1.
    AC009570 Genomic DNA. No translation available.
    BC051716 mRNA. Translation: AAH51716.1.
    AF112221 mRNA. Translation: AAF17208.1. Frameshift.
    CCDSiCCDS34001.1. [Q7L099-3]
    CCDS3547.1. [Q7L099-1]
    CCDS47068.1. [Q7L099-2]
    RefSeqiNP_001032519.1. NM_001037442.3. [Q7L099-3]
    NP_001124181.1. NM_001130709.1. [Q7L099-2]
    NP_055776.1. NM_014961.4. [Q7L099-1]
    UniGeneiHs.740904.

    Genome annotation databases

    EnsembliENST00000226328; ENSP00000226328; ENSG00000018189. [Q7L099-1]
    ENST00000381006; ENSP00000370394; ENSG00000018189. [Q7L099-3]
    ENST00000417478; ENSP00000399771; ENSG00000018189. [Q7L099-2]
    ENST00000502653; ENSP00000425400; ENSG00000018189. [Q7L099-4]
    GeneIDi22902.
    KEGGihsa:22902.
    UCSCiuc003hfp.4. human. [Q7L099-2]
    uc003hfq.3. human. [Q7L099-1]
    uc003hfr.3. human. [Q7L099-3]
    uc011cay.2. human. [Q7L099-4]

    Polymorphism databases

    DMDMi74738521.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB020678 mRNA. Translation: BAA74894.2 . Different initiation.
    AK000911 mRNA. Translation: BAG50837.1 .
    AK302637 mRNA. Translation: BAG63879.1 .
    AC009570 Genomic DNA. No translation available.
    BC051716 mRNA. Translation: AAH51716.1 .
    AF112221 mRNA. Translation: AAF17208.1 . Frameshift.
    CCDSi CCDS34001.1. [Q7L099-3 ]
    CCDS3547.1. [Q7L099-1 ]
    CCDS47068.1. [Q7L099-2 ]
    RefSeqi NP_001032519.1. NM_001037442.3. [Q7L099-3 ]
    NP_001124181.1. NM_001130709.1. [Q7L099-2 ]
    NP_055776.1. NM_014961.4. [Q7L099-1 ]
    UniGenei Hs.740904.

    3D structure databases

    ProteinModelPortali Q7L099.
    SMRi Q7L099. Positions 65-231.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116566. 3 interactions.
    IntActi Q7L099. 3 interactions.
    MINTi MINT-1373309.
    STRINGi 9606.ENSP00000370394.

    PTM databases

    PhosphoSitei Q7L099.

    Polymorphism databases

    DMDMi 74738521.

    Proteomic databases

    MaxQBi Q7L099.
    PaxDbi Q7L099.
    PRIDEi Q7L099.

    Protocols and materials databases

    DNASUi 22902.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000226328 ; ENSP00000226328 ; ENSG00000018189 . [Q7L099-1 ]
    ENST00000381006 ; ENSP00000370394 ; ENSG00000018189 . [Q7L099-3 ]
    ENST00000417478 ; ENSP00000399771 ; ENSG00000018189 . [Q7L099-2 ]
    ENST00000502653 ; ENSP00000425400 ; ENSG00000018189 . [Q7L099-4 ]
    GeneIDi 22902.
    KEGGi hsa:22902.
    UCSCi uc003hfp.4. human. [Q7L099-2 ]
    uc003hfq.3. human. [Q7L099-1 ]
    uc003hfr.3. human. [Q7L099-3 ]
    uc011cay.2. human. [Q7L099-4 ]

    Organism-specific databases

    CTDi 22902.
    GeneCardsi GC04P071571.
    HGNCi HGNC:30285. RUFY3.
    HPAi HPA022952.
    HPA022970.
    MIMi 611194. gene.
    neXtProti NX_Q7L099.
    PharmGKBi PA142670961.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270133.
    HOGENOMi HOG000030913.
    HOVERGENi HBG057053.
    OMAi YYSANIA.
    OrthoDBi EOG722J98.
    PhylomeDBi Q7L099.
    TreeFami TF323904.

    Miscellaneous databases

    ChiTaRSi RUFY3. human.
    GenomeRNAii 22902.
    NextBioi 43539.
    PROi Q7L099.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q7L099.
    Bgeei Q7L099.
    CleanExi HS_RUFY3.
    Genevestigatori Q7L099.

    Family and domain databases

    InterProi IPR004012. Run.
    [Graphical view ]
    Pfami PF02759. RUN. 1 hit.
    [Graphical view ]
    SMARTi SM00593. RUN. 1 hit.
    [Graphical view ]
    PROSITEi PS50826. RUN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      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] (ISOFORMS 2 AND 4).
      Tissue: Embryo and Testis.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [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: Brain.
    5. "A novel gene expressed in human adrenal gland."
      Peng Y., Gu Y., Gu J., Huang Q., Fu S., Wu T., Dong H., Jin W., Fu G., Han Z., Chen Z., Wang Y.
      Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Adrenal gland.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiRUFY3_HUMAN
    AccessioniPrimary (citable) accession number: Q7L099
    Secondary accession number(s): B3KM25
    , B4DYW7, D9N163, O94948, Q9UI00
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 86 of the entry and version 1 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3