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Q9UHV5

- RPGFL_HUMAN

UniProt

Q9UHV5 - RPGFL_HUMAN

Protein

Rap guanine nucleotide exchange factor-like 1

Gene

RAPGEFL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 2 (02 Sep 2008)
      Previous versions | rss
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    Functioni

    Probable guanine nucleotide exchange factor (GEF).

    GO - Molecular functioni

    1. guanyl-nucleotide exchange factor activity Source: ProtInc

    GO - Biological processi

    1. G-protein coupled receptor signaling pathway Source: ProtInc
    2. nervous system development Source: ProtInc
    3. positive regulation of GTPase activity Source: GOC
    4. small GTPase mediated signal transduction Source: InterPro

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Rap guanine nucleotide exchange factor-like 1
    Alternative name(s):
    Link guanine nucleotide exchange factor II
    Short name:
    Link GEFII
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:17428. RAPGEFL1.

    Subcellular locationi

    GO - Cellular componenti

    1. intracellular Source: InterPro
    2. membrane Source: ProtInc

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134884826.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 662662Rap guanine nucleotide exchange factor-like 1PRO_0000349202Add
    BLAST

    Proteomic databases

    MaxQBiQ9UHV5.
    PaxDbiQ9UHV5.
    PRIDEiQ9UHV5.

    PTM databases

    PhosphoSiteiQ9UHV5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UHV5.
    BgeeiQ9UHV5.
    CleanExiHS_RAPGEFL1.
    GenevestigatoriQ9UHV5.

    Organism-specific databases

    HPAiHPA022895.

    Interactioni

    Protein-protein interaction databases

    BioGridi119369. 2 interactions.
    IntActiQ9UHV5. 1 interaction.
    STRINGi9606.ENSP00000408322.

    Structurei

    Secondary structure

    1
    662
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi316 – 3183
    Beta strandi330 – 3323
    Helixi338 – 34811
    Beta strandi349 – 3513
    Beta strandi363 – 3686
    Helixi383 – 3864
    Beta strandi389 – 3968
    Turni398 – 4036
    Beta strandi410 – 4134

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2DHZNMR-A314-420[»]
    ProteinModelPortaliQ9UHV5.
    SMRiQ9UHV5. Positions 151-658.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9UHV5.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini424 – 660237Ras-GEFPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi17 – 118102Gly-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG280292.
    HOGENOMiHOG000230545.
    HOVERGENiHBG056985.
    InParanoidiQ9UHV5.
    OMAiHQYFVRA.
    OrthoDBiEOG7ZD1TF.
    PhylomeDBiQ9UHV5.
    TreeFamiTF313184.

    Family and domain databases

    Gene3Di1.10.840.10. 1 hit.
    InterProiIPR023578. Ras_GEF_dom.
    IPR001895. RasGRF_CDC25.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF00617. RasGEF. 1 hit.
    [Graphical view]
    SMARTiSM00147. RasGEF. 1 hit.
    [Graphical view]
    SUPFAMiSSF48366. SSF48366. 2 hits.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS50009. RASGEF_CAT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHV5-1) [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

    MKPLEKFLKK QTSQLAGRTV AGGPGGGLGS CGGPGGGGGP GGGGGPAGGQ    50
    RSLQRRQSVS RLLLPAFLRE PPAEPGLEPP VPEEGGEPAG VAEEPGSGGP 100
    CWLQLEEVPG PGPLGGGGPL RSPSSYSSDE LSPGEPLTSP PWAPLGAPER 150
    PEHLLNRVLE RLAGGATRDS AASDILLDDI VLTHSLFLPT EKFLQELHQY 200
    FVRAGGMEGP EGLGRKQACL AMLLHFLDTY QGLLQEEEGA GHIIKDLYLL 250
    IMKDESLYQG LREDTLRLHQ LVETVELKIP EENQPPSKQV KPLFRHFRRI 300
    DSCLQTRVAF RGSDEIFCRV YMPDHSYVTI RSRLSASVQD ILGSVTEKLQ 350
    YSEEPAGRED SLILVAVSSS GEKVLLQPTE DCVFTALGIN SHLFACTRDS 400
    YEALVPLPEE IQVSPGDTEI HRVEPEDVAN HLTAFHWELF RCVHELEFVD 450
    YVFHGERGRR ETANLELLLQ RCSEVTHWVA TEVLLCEAPG KRAQLLKKFI 500
    KIAALCKQNQ DLLSFYAVVM GLDNAAVSRL RLTWEKLPGK FKNLFRKFEN 550
    LTDPCRNHKS YREVISKMKP PVIPFVPLIL KDLTFLHEGS KTLVDGLVNI 600
    EKLHSVAEKV RTIRKYRSRP LCLDMEASPN HLQTKAYVRQ FQVIDNQNLL 650
    FELSYKLEAN SQ 662
    Length:662
    Mass (Da):73,265
    Last modified:September 2, 2008 - v2
    Checksum:iC6724336938D5769
    GO
    Isoform 2 (identifier: Q9UHV5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-206: Missing.

    Show »
    Length:456
    Mass (Da):52,343
    Checksum:i1BDD93BA234D98CA
    GO
    Isoform 3 (identifier: Q9UHV5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-151: Missing.
         152-174: EHLLNRVLERLAGGATRDSAASD → MLIHPRGLPSSSHRRKINSTYFY

    Show »
    Length:511
    Mass (Da):58,783
    Checksum:i26B7A9366FB9F5A8
    GO

    Sequence cautioni

    The sequence BAG36274.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti81 – 822VP → PE in BC029956. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 206206Missing in isoform 2. 2 PublicationsVSP_035217Add
    BLAST
    Alternative sequencei1 – 151151Missing in isoform 3. 1 PublicationVSP_035385Add
    BLAST
    Alternative sequencei152 – 17423EHLLN…SAASD → MLIHPRGLPSSSHRRKINST YFY in isoform 3. 1 PublicationVSP_035386Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117946 mRNA. Translation: AAF22003.1.
    AK313492 mRNA. Translation: BAG36274.1. Different initiation.
    AC068669 Genomic DNA. No translation available.
    BC029956 mRNA. No translation available.
    BC115374 mRNA. Translation: AAI15375.1.
    BC115375 mRNA. Translation: AAI15376.1.
    CCDSiCCDS11363.1. [Q9UHV5-2]
    RefSeqiNP_057423.1. NM_016339.3. [Q9UHV5-2]
    XP_006721996.1. XM_006721933.1. [Q9UHV5-3]
    XP_006722000.1. XM_006721937.1. [Q9UHV5-2]
    UniGeneiHs.632254.

    Genome annotation databases

    EnsembliENST00000264644; ENSP00000264644; ENSG00000108352. [Q9UHV5-2]
    ENST00000456989; ENSP00000394530; ENSG00000108352. [Q9UHV5-3]
    GeneIDi51195.
    KEGGihsa:51195.
    UCSCiuc010cwu.1. human. [Q9UHV5-1]

    Polymorphism databases

    DMDMi205829945.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF117946 mRNA. Translation: AAF22003.1 .
    AK313492 mRNA. Translation: BAG36274.1 . Different initiation.
    AC068669 Genomic DNA. No translation available.
    BC029956 mRNA. No translation available.
    BC115374 mRNA. Translation: AAI15375.1 .
    BC115375 mRNA. Translation: AAI15376.1 .
    CCDSi CCDS11363.1. [Q9UHV5-2 ]
    RefSeqi NP_057423.1. NM_016339.3. [Q9UHV5-2 ]
    XP_006721996.1. XM_006721933.1. [Q9UHV5-3 ]
    XP_006722000.1. XM_006721937.1. [Q9UHV5-2 ]
    UniGenei Hs.632254.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2DHZ NMR - A 314-420 [» ]
    ProteinModelPortali Q9UHV5.
    SMRi Q9UHV5. Positions 151-658.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119369. 2 interactions.
    IntActi Q9UHV5. 1 interaction.
    STRINGi 9606.ENSP00000408322.

    PTM databases

    PhosphoSitei Q9UHV5.

    Polymorphism databases

    DMDMi 205829945.

    Proteomic databases

    MaxQBi Q9UHV5.
    PaxDbi Q9UHV5.
    PRIDEi Q9UHV5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264644 ; ENSP00000264644 ; ENSG00000108352 . [Q9UHV5-2 ]
    ENST00000456989 ; ENSP00000394530 ; ENSG00000108352 . [Q9UHV5-3 ]
    GeneIDi 51195.
    KEGGi hsa:51195.
    UCSCi uc010cwu.1. human. [Q9UHV5-1 ]

    Organism-specific databases

    CTDi 51195.
    GeneCardsi GC17P038333.
    HGNCi HGNC:17428. RAPGEFL1.
    HPAi HPA022895.
    neXtProti NX_Q9UHV5.
    PharmGKBi PA134884826.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280292.
    HOGENOMi HOG000230545.
    HOVERGENi HBG056985.
    InParanoidi Q9UHV5.
    OMAi HQYFVRA.
    OrthoDBi EOG7ZD1TF.
    PhylomeDBi Q9UHV5.
    TreeFami TF313184.

    Miscellaneous databases

    ChiTaRSi RAPGEFL1. human.
    EvolutionaryTracei Q9UHV5.
    GenomeRNAii 51195.
    NextBioi 54206.
    PROi Q9UHV5.

    Gene expression databases

    ArrayExpressi Q9UHV5.
    Bgeei Q9UHV5.
    CleanExi HS_RAPGEFL1.
    Genevestigatori Q9UHV5.

    Family and domain databases

    Gene3Di 1.10.840.10. 1 hit.
    InterProi IPR023578. Ras_GEF_dom.
    IPR001895. RasGRF_CDC25.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF00617. RasGEF. 1 hit.
    [Graphical view ]
    SMARTi SM00147. RasGEF. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48366. SSF48366. 2 hits.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS50009. RASGEF_CAT. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A new family of Rap guanine nucleotide exchange factors."
      Kawasaki H., Chen E.J., Springett G.M., Graybiel A.M., Housman D.E.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    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 3).
      Tissue: Tongue.
    3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-459 (ISOFORM 1).
    5. "Solution structure of the RA domain in the human link guanine nucleotide exchange factor II (Link-GEFII)."
      RIKEN structural genomics initiative (RSGI)
      Submitted (SEP-2006) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 314-420.

    Entry informationi

    Entry nameiRPGFL_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHV5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 2, 2008
    Last sequence update: September 2, 2008
    Last modified: October 1, 2014
    This is version 101 of the entry and version 2 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 17
      Human chromosome 17: entries, gene names and cross-references to MIM
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3