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Q9NZL6

- RGL1_HUMAN

UniProt

Q9NZL6 - RGL1_HUMAN

Protein

Ral guanine nucleotide dissociation stimulator-like 1

Gene

RGL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    Probable guanine nucleotide exchange factor.

    GO - Molecular functioni

    1. Ral guanyl-nucleotide exchange factor activity Source: UniProtKB

    GO - Biological processi

    1. cellular lipid metabolic process Source: Reactome
    2. positive regulation of Ral GTPase activity Source: GOC
    3. small GTPase mediated signal transduction Source: UniProtKB
    4. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Enzyme and pathway databases

    ReactomeiREACT_116145. PPARA activates gene expression.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ral guanine nucleotide dissociation stimulator-like 1
    Short name:
    RalGDS-like 1
    Gene namesi
    Name:RGL1
    Synonyms:KIAA0959, RGL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:30281. RGL1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134934636.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 768768Ral guanine nucleotide dissociation stimulator-like 1PRO_0000068885Add
    BLAST

    Proteomic databases

    PaxDbiQ9NZL6.
    PRIDEiQ9NZL6.

    PTM databases

    PhosphoSiteiQ9NZL6.

    Expressioni

    Tissue specificityi

    Expressed in a wide variety of tissues with strong expression being seen in the heart, brain, kidney, spleen and testis.

    Gene expression databases

    ArrayExpressiQ9NZL6.
    BgeeiQ9NZL6.
    CleanExiHS_RGL1.
    GenevestigatoriQ9NZL6.

    Organism-specific databases

    HPAiHPA019788.

    Interactioni

    Subunit structurei

    Interacts with Ras.By similarity

    Protein-protein interaction databases

    BioGridi116791. 2 interactions.
    DIPiDIP-31372N.
    IntActiQ9NZL6. 2 interactions.
    STRINGi9606.ENSP00000303192.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NZL6.
    SMRiQ9NZL6. Positions 66-499, 647-734.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini65 – 196132N-terminal Ras-GEFPROSITE-ProRule annotationAdd
    BLAST
    Domaini232 – 501270Ras-GEFPROSITE-ProRule annotationAdd
    BLAST
    Domaini648 – 73588Ras-associatingPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi541 – 61373Ser-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 N-terminal Ras-GEF domain.PROSITE-ProRule annotation
    Contains 1 Ras-associating domain.PROSITE-ProRule annotation
    Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG308735.
    HOVERGENiHBG005864.
    KOiK17635.
    OMAiKRGCWSN.
    OrthoDBiEOG76DTRS.
    PhylomeDBiQ9NZL6.
    TreeFamiTF315204.

    Family and domain databases

    Gene3Di1.10.840.10. 2 hits.
    InterProiIPR000159. Ras-assoc.
    IPR000651. Ras-like_Gua-exchang_fac_N.
    IPR019804. Ras_G-nucl-exch_fac_CS.
    IPR023578. Ras_GEF_dom.
    IPR001895. RasGRF_CDC25.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view]
    PfamiPF00788. RA. 1 hit.
    PF00617. RasGEF. 1 hit.
    PF00618. RasGEF_N. 1 hit.
    [Graphical view]
    SMARTiSM00314. RA. 1 hit.
    SM00147. RasGEF. 1 hit.
    SM00229. RasGEFN. 1 hit.
    [Graphical view]
    SUPFAMiSSF48366. SSF48366. 2 hits.
    SSF54236. SSF54236. 1 hit.
    PROSITEiPS50200. RA. 1 hit.
    PS00720. RASGEF. 1 hit.
    PS50009. RASGEF_CAT. 1 hit.
    PS50212. RASGEF_NTER. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: Q9NZL6-1) [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

    MKLLWQAKMS SIQDWGEEVE EGAVYHVTLK RVQIQQAANK GARWLGVEGD    50
    QLPPGHTVSQ YETCKIRTIK AGTLEKLVEN LLTAFGDNDF TYISIFLSTY 100
    RGFASTKEVL ELLLDRYGNL TSPNCEEDGS QSSSESKMVI RNAIASILRA 150
    WLDQCAEDFR EPPHFPCLQK LLDYLTRMMP GSDPERRAQN LLEQFQKQEV 200
    ETDNGLPNTI SFSLEEEEEL EGGESAEFTC FSEDLVAEQL TYMDAQLFKK 250
    VVPHHCLGCI WSRRDKKENK HLAPTIRATI SQFNTLTKCV VSTILGGKEL 300
    KTQQRAKIIE KWINIAHECR LLKNFSSLRA IVSALQSNSI YRLKKTWAAV 350
    PRDRMLMFEE LSDIFSDHNN HLTSRELLMK EGTSKFANLD SSVKENQKRT 400
    QRRLQLQKDM GVMQGTVPYL GTFLTDLTML DTALQDYIEG GLINFEKRRR 450
    EFEVIAQIKL LQSACNSYCM TPDQKFIQWF QRQQLLTEEE SYALSCEIEA 500
    AADASTTSPK PRKSMVKRLS LLFLGSDMIT SPTPTKEQPK STASGSSGES 550
    MDSVSVSSCE SNHSEAEEGS ITPMDTPDEP QKKLSESSSS CSSIHSMDTN 600
    SSGMSSLINP LSSPPSCNNN PKIHKRSVSV TSITSTVLPP VYNQQNEDTC 650
    IIRISVEDNN GNMYKSIMLT SQDKTPAVIQ RAMLKHNLDS DPAEEYELVQ 700
    VISEDKELVI PDSANVFYAM NSQVNFDFIL RKKNSMEEQV KLRSRTSLTL 750
    PRTAKRGCWS NRHSKITL 768
    Length:768
    Mass (Da):86,701
    Last modified:October 1, 2000 - v1
    Checksum:i5EE4AF6D5E0C2386
    GO
    Isoform B (identifier: Q9NZL6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MKLLWQAKM → MEVKPVGEPTQEVSKFKLSTKVESTGHWLVEDHVRIWEVLKTEE

    Show »
    Length:803
    Mass (Da):90,690
    Checksum:i296B9ED349ECBC1C
    GO

    Sequence cautioni

    The sequence BAA76803.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti15 – 151W → G(PubMed:17974005)Curated
    Sequence conflicti687 – 6871N → Y(PubMed:17974005)Curated
    Sequence conflicti761 – 7611N → Y in AAF67281. (PubMed:10760592)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741Y → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035823
    Natural varianti699 – 6991V → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035824

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 99MKLLWQAKM → MEVKPVGEPTQEVSKFKLST KVESTGHWLVEDHVRIWEVL KTEE in isoform B. 2 PublicationsVSP_001824

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF186779 mRNA. Translation: AAF67280.1.
    AF186780 mRNA. Translation: AAF67281.1.
    AF186798
    , AF186781, AF186783, AF186784, AF186785, AF186786, AF186787, AF186788, AF186789, AF186790, AF186791, AF186792, AF186793, AF186794, AF186795, AF186796, AF186797 Genomic DNA. Translation: AAG14400.1.
    AF186798
    , AF192520, AF186783, AF186784, AF186785, AF186786, AF186787, AF186788, AF186789, AF186790, AF186791, AF186792, AF186793, AF186794, AF186795, AF186796, AF186797 Genomic DNA. Translation: AAG14401.1.
    AB023176 mRNA. Translation: BAA76803.1. Different initiation.
    AL590422, AL592299 Genomic DNA. Translation: CAH73873.1.
    AL590422, AL592299 Genomic DNA. Translation: CAH73874.1.
    AL592299, AL590422 Genomic DNA. Translation: CAI14720.1.
    AL592299, AL590422 Genomic DNA. Translation: CAI14724.1.
    CH471067 Genomic DNA. Translation: EAW91166.1.
    CH471067 Genomic DNA. Translation: EAW91167.1.
    BC136591 mRNA. Translation: AAI36592.1.
    AL080117 mRNA. Translation: CAB45716.1.
    CCDSiCCDS1359.1. [Q9NZL6-2]
    PIRiT12453.
    RefSeqiNP_055964.3. NM_015149.3. [Q9NZL6-2]
    XP_005245067.1. XM_005245010.1. [Q9NZL6-1]
    UniGeneiHs.497148.

    Genome annotation databases

    EnsembliENST00000304685; ENSP00000303192; ENSG00000143344. [Q9NZL6-2]
    ENST00000360851; ENSP00000354097; ENSG00000143344. [Q9NZL6-1]
    GeneIDi23179.
    KEGGihsa:23179.
    UCSCiuc001gqm.3. human. [Q9NZL6-2]
    uc001gqo.3. human. [Q9NZL6-1]

    Polymorphism databases

    DMDMi14548230.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF186779 mRNA. Translation: AAF67280.1 .
    AF186780 mRNA. Translation: AAF67281.1 .
    AF186798
    , AF186781 , AF186783 , AF186784 , AF186785 , AF186786 , AF186787 , AF186788 , AF186789 , AF186790 , AF186791 , AF186792 , AF186793 , AF186794 , AF186795 , AF186796 , AF186797 Genomic DNA. Translation: AAG14400.1 .
    AF186798
    , AF192520 , AF186783 , AF186784 , AF186785 , AF186786 , AF186787 , AF186788 , AF186789 , AF186790 , AF186791 , AF186792 , AF186793 , AF186794 , AF186795 , AF186796 , AF186797 Genomic DNA. Translation: AAG14401.1 .
    AB023176 mRNA. Translation: BAA76803.1 . Different initiation.
    AL590422 , AL592299 Genomic DNA. Translation: CAH73873.1 .
    AL590422 , AL592299 Genomic DNA. Translation: CAH73874.1 .
    AL592299 , AL590422 Genomic DNA. Translation: CAI14720.1 .
    AL592299 , AL590422 Genomic DNA. Translation: CAI14724.1 .
    CH471067 Genomic DNA. Translation: EAW91166.1 .
    CH471067 Genomic DNA. Translation: EAW91167.1 .
    BC136591 mRNA. Translation: AAI36592.1 .
    AL080117 mRNA. Translation: CAB45716.1 .
    CCDSi CCDS1359.1. [Q9NZL6-2 ]
    PIRi T12453.
    RefSeqi NP_055964.3. NM_015149.3. [Q9NZL6-2 ]
    XP_005245067.1. XM_005245010.1. [Q9NZL6-1 ]
    UniGenei Hs.497148.

    3D structure databases

    ProteinModelPortali Q9NZL6.
    SMRi Q9NZL6. Positions 66-499, 647-734.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116791. 2 interactions.
    DIPi DIP-31372N.
    IntActi Q9NZL6. 2 interactions.
    STRINGi 9606.ENSP00000303192.

    PTM databases

    PhosphoSitei Q9NZL6.

    Polymorphism databases

    DMDMi 14548230.

    Proteomic databases

    PaxDbi Q9NZL6.
    PRIDEi Q9NZL6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000304685 ; ENSP00000303192 ; ENSG00000143344 . [Q9NZL6-2 ]
    ENST00000360851 ; ENSP00000354097 ; ENSG00000143344 . [Q9NZL6-1 ]
    GeneIDi 23179.
    KEGGi hsa:23179.
    UCSCi uc001gqm.3. human. [Q9NZL6-2 ]
    uc001gqo.3. human. [Q9NZL6-1 ]

    Organism-specific databases

    CTDi 23179.
    GeneCardsi GC01P183605.
    H-InvDB HIX0001411.
    HGNCi HGNC:30281. RGL1.
    HPAi HPA019788.
    MIMi 605667. gene.
    neXtProti NX_Q9NZL6.
    PharmGKBi PA134934636.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308735.
    HOVERGENi HBG005864.
    KOi K17635.
    OMAi KRGCWSN.
    OrthoDBi EOG76DTRS.
    PhylomeDBi Q9NZL6.
    TreeFami TF315204.

    Enzyme and pathway databases

    Reactomei REACT_116145. PPARA activates gene expression.

    Miscellaneous databases

    ChiTaRSi RGL1. human.
    GenomeRNAii 23179.
    NextBioi 44629.
    PROi Q9NZL6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NZL6.
    Bgeei Q9NZL6.
    CleanExi HS_RGL1.
    Genevestigatori Q9NZL6.

    Family and domain databases

    Gene3Di 1.10.840.10. 2 hits.
    InterProi IPR000159. Ras-assoc.
    IPR000651. Ras-like_Gua-exchang_fac_N.
    IPR019804. Ras_G-nucl-exch_fac_CS.
    IPR023578. Ras_GEF_dom.
    IPR001895. RasGRF_CDC25.
    IPR029071. Ubiquitin-rel_dom.
    [Graphical view ]
    Pfami PF00788. RA. 1 hit.
    PF00617. RasGEF. 1 hit.
    PF00618. RasGEF_N. 1 hit.
    [Graphical view ]
    SMARTi SM00314. RA. 1 hit.
    SM00147. RasGEF. 1 hit.
    SM00229. RasGEFN. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48366. SSF48366. 2 hits.
    SSF54236. SSF54236. 1 hit.
    PROSITEi PS50200. RA. 1 hit.
    PS00720. RASGEF. 1 hit.
    PS50009. RASGEF_CAT. 1 hit.
    PS50212. RASGEF_NTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS A AND B).
    2. "Prediction of the coding sequences of unidentified human genes. XIII. 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. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Brain.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 B).
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-768 (ISOFORM A).
      Tissue: Brain.
    7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-174 AND MET-699.

    Entry informationi

    Entry nameiRGL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NZL6
    Secondary accession number(s): Q5SXQ2
    , Q5SXQ6, Q9HBY3, Q9HBY4, Q9NZL5, Q9UG43, Q9Y2G6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 20, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 124 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 1
      Human chromosome 1: 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