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Q5VVW2

- GARL3_HUMAN

UniProt

Q5VVW2 - GARL3_HUMAN

Protein

GTPase-activating Rap/Ran-GAP domain-like protein 3

Gene

GARNL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (04 Dec 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. GTPase activator activity Source: UniProtKB-KW
    2. small GTPase regulator activity Source: InterPro

    GO - Biological processi

    1. regulation of small GTPase mediated signal transduction Source: InterPro

    Keywords - Molecular functioni

    GTPase activation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GTPase-activating Rap/Ran-GAP domain-like protein 3
    Gene namesi
    Name:GARNL3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:25425. GARNL3.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134861523.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 10131013GTPase-activating Rap/Ran-GAP domain-like protein 3PRO_0000312215Add
    BLAST

    Proteomic databases

    MaxQBiQ5VVW2.
    PaxDbiQ5VVW2.
    PRIDEiQ5VVW2.

    PTM databases

    PhosphoSiteiQ5VVW2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ5VVW2.
    BgeeiQ5VVW2.
    CleanExiHS_GARNL3.
    GenevestigatoriQ5VVW2.

    Organism-specific databases

    HPAiHPA022433.
    HPA028757.

    Interactioni

    Protein-protein interaction databases

    BioGridi123980. 1 interaction.
    STRINGi9606.ENSP00000362485.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5VVW2.
    SMRiQ5VVW2. Positions 87-411.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini191 – 407217Rap-GAPPROSITE-ProRule annotationAdd
    BLAST
    Domaini489 – 800312CNHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the GARNL3 family.Curated
    Contains 1 CNH domain.PROSITE-ProRule annotation
    Contains 1 Rap-GAP domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG240885.
    HOGENOMiHOG000234088.
    HOVERGENiHBG059186.
    InParanoidiQ5VVW2.
    OMAiIHSVYTV.
    OrthoDBiEOG7S4X67.
    PhylomeDBiQ5VVW2.
    TreeFamiTF318626.

    Family and domain databases

    InterProiIPR001180. Citron.
    IPR000331. Rap_GAP_dom.
    [Graphical view]
    PfamiPF00780. CNH. 1 hit.
    PF02145. Rap_GAP. 1 hit.
    [Graphical view]
    PROSITEiPS50219. CNH. 1 hit.
    PS50085. RAPGAP. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5VVW2-1) [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

    MVVDFCRRFV ARSLCIILMK HFCSSSVSED LGCRRGDFSR KHYGSVELLI     50
    SSDADGAIQR AGRFRVENGS SDENATALPG TWRRTDVHLE NPEYHTRWYF 100
    KYFLGQVHQN YIGNDAEKSP FFLSVTLSDQ NNQRVPQYRA ILWRKTGTQK 150
    ICLPYSPTKT LSVKSILSAM NLDKFEKGPR EIFHPEIQKD LLVLEEQEGS 200
    VNFKFGVLFA KDGQLTDDEM FSNEIGSEPF QKFLNLLGDT ITLKGWTGYR 250
    GGLDTKNDTT GIHSVYTVYQ GHEIMFHVST MLPYSKENKQ QVERKRHIGN 300
    DIVTIVFQEG EESSPAFKPS MIRSHFTHIF ALVRYNQQND NYRLKIFSEE 350
    SVPLFGPPLP TPPVFTDHQE FRDFLLVKLI NGEKATLETP TFAQKRRRTL 400
    DMLIRSLHQD LMPDLHKNML NRRSFSDVLP ESPKSARKKE EARQAEFVRI 450
    GQALKLKSIV RGDAPSSLAA SGICKKEPWE PQCFCSNFPH EAVCADPWGQ 500
    ALLVSTDAGV LLVDDDLPSV PVFDRTLPVK QMHVLETLDL LVLRADKGKD 550
    ARLFVFRLSA LQKGLEGKQA GKSRSDCREN KLEKTKGCHL YAINTHHSRE 600
    LRIVVAIRNK LLLITRKHNK PSGVTSTSLL SPLSESPVEE FQYIREICLS 650
    DSPMVMTLVD GPAEESDNLI CVAYRHQFDV VNESTGEAFR LHHVEANRVN 700
    FVAAIDVYED GEAGLLLCYN YSCIYKKVCP FNGGSFLVQP SASDFQFCWN 750
    QAPYAIVCAF PYLLAFTTDS MEIRLVVNGN LVHTAVVPQL QLVASRSDIY 800
    FTATAAVNEV SSGGSSKGAS ARNSPQTPPG RDTPVFPSSL GEGEIQSKNL 850
    YKIPLRNLVG RSIERPLKSP LVSKVITPPT PISVGLAAIP VTHSLSLSRM 900
    EIKEIASRTR RELLGLSDEG GPKSEGAPKA KSKPRKRLEE SQGGPKPGAV 950
    RSSSSDRIPS GSLESASTSE ANPEGHSASS DQDPVADREG SPVSGSSPFQ 1000
    LTAFSDEDII DLK 1013
    Length:1,013
    Mass (Da):112,852
    Last modified:December 4, 2007 - v2
    Checksum:i1DF777ECF38DC561
    GO
    Isoform 2 (identifier: Q5VVW2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         797-820: SDIYFTATAAVNEVSSGGSSKGAS → VKFNQKICTRFHLETSWAEASNDL
         821-1013: Missing.

    Show »
    Length:820
    Mass (Da):93,047
    Checksum:iE5065CE61A0127D0
    GO
    Isoform 3 (identifier: Q5VVW2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         170-210: Missing.
         453-465: ALKLKSIVRGDAP → VGFLLKPFLRDM
         466-1013: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:423
    Mass (Da):48,776
    Checksum:i3465A220A94F2564
    GO
    Isoform 4 (identifier: Q5VVW2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-770: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:243
    Mass (Da):25,483
    Checksum:i3A9E00377A606011
    GO
    Isoform 5 (identifier: Q5VVW2-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-24: MVVDFCRRFVARSLCIILMKHFCS → MK

    Note: No experimental confirmation available.

    Show »
    Length:991
    Mass (Da):110,254
    Checksum:i63C30C9ED9DF3C87
    GO

    Sequence cautioni

    The sequence AAH34983.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAB66508.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAH72927.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAI41459.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti108 – 1081H → R.1 Publication
    Corresponds to variant rs11550746 [ dbSNP | Ensembl ].
    VAR_037456
    Natural varianti752 – 7521A → S.
    Corresponds to variant rs34608132 [ dbSNP | Ensembl ].
    VAR_037457

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 770770Missing in isoform 4. 1 PublicationVSP_029745Add
    BLAST
    Alternative sequencei1 – 2424MVVDF…KHFCS → MK in isoform 5. 1 PublicationVSP_054875Add
    BLAST
    Alternative sequencei170 – 21041Missing in isoform 3. 1 PublicationVSP_029740Add
    BLAST
    Alternative sequencei453 – 46513ALKLK…RGDAP → VGFLLKPFLRDM in isoform 3. 1 PublicationVSP_029741Add
    BLAST
    Alternative sequencei466 – 1013548Missing in isoform 3. 1 PublicationVSP_029742Add
    BLAST
    Alternative sequencei797 – 82024SDIYF…SKGAS → VKFNQKICTRFHLETSWAEA SNDL in isoform 2. 1 PublicationVSP_029743Add
    BLAST
    Alternative sequencei821 – 1013193Missing in isoform 2. 1 PublicationVSP_029744Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095679 mRNA. Translation: BAC04605.1.
    AK293732 mRNA. Translation: BAG57158.1.
    AK296246 mRNA. Translation: BAH12292.1.
    AL834149 mRNA. Translation: CAD38860.1.
    AL445222, AL450263 Genomic DNA. Translation: CAH72927.1. Different initiation.
    AL450263, AL445222 Genomic DNA. Translation: CAI41459.1. Different initiation.
    CH471090 Genomic DNA. Translation: EAW87656.1.
    BC034983 mRNA. Translation: AAH34983.1. Different initiation.
    AL136573 mRNA. Translation: CAB66508.1. Different initiation.
    CCDSiCCDS6869.2. [Q5VVW2-1]
    CCDS69663.1. [Q5VVW2-5]
    RefSeqiNP_001273708.1. NM_001286779.1. [Q5VVW2-5]
    NP_115669.3. NM_032293.4. [Q5VVW2-1]
    UniGeneiHs.29304.

    Genome annotation databases

    EnsembliENST00000373386; ENSP00000362484; ENSG00000136895.
    ENST00000373387; ENSP00000362485; ENSG00000136895. [Q5VVW2-1]
    ENST00000435213; ENSP00000396205; ENSG00000136895. [Q5VVW2-5]
    GeneIDi84253.
    KEGGihsa:84253.
    UCSCiuc010mxi.3. human. [Q5VVW2-4]
    uc011mae.2. human. [Q5VVW2-1]

    Polymorphism databases

    DMDMi162416278.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095679 mRNA. Translation: BAC04605.1 .
    AK293732 mRNA. Translation: BAG57158.1 .
    AK296246 mRNA. Translation: BAH12292.1 .
    AL834149 mRNA. Translation: CAD38860.1 .
    AL445222 , AL450263 Genomic DNA. Translation: CAH72927.1 . Different initiation.
    AL450263 , AL445222 Genomic DNA. Translation: CAI41459.1 . Different initiation.
    CH471090 Genomic DNA. Translation: EAW87656.1 .
    BC034983 mRNA. Translation: AAH34983.1 . Different initiation.
    AL136573 mRNA. Translation: CAB66508.1 . Different initiation.
    CCDSi CCDS6869.2. [Q5VVW2-1 ]
    CCDS69663.1. [Q5VVW2-5 ]
    RefSeqi NP_001273708.1. NM_001286779.1. [Q5VVW2-5 ]
    NP_115669.3. NM_032293.4. [Q5VVW2-1 ]
    UniGenei Hs.29304.

    3D structure databases

    ProteinModelPortali Q5VVW2.
    SMRi Q5VVW2. Positions 87-411.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123980. 1 interaction.
    STRINGi 9606.ENSP00000362485.

    PTM databases

    PhosphoSitei Q5VVW2.

    Polymorphism databases

    DMDMi 162416278.

    Proteomic databases

    MaxQBi Q5VVW2.
    PaxDbi Q5VVW2.
    PRIDEi Q5VVW2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373386 ; ENSP00000362484 ; ENSG00000136895 .
    ENST00000373387 ; ENSP00000362485 ; ENSG00000136895 . [Q5VVW2-1 ]
    ENST00000435213 ; ENSP00000396205 ; ENSG00000136895 . [Q5VVW2-5 ]
    GeneIDi 84253.
    KEGGi hsa:84253.
    UCSCi uc010mxi.3. human. [Q5VVW2-4 ]
    uc011mae.2. human. [Q5VVW2-1 ]

    Organism-specific databases

    CTDi 84253.
    GeneCardsi GC09P129987.
    H-InvDB HIX0008395.
    HIX0125608.
    HIX0169331.
    HGNCi HGNC:25425. GARNL3.
    HPAi HPA022433.
    HPA028757.
    neXtProti NX_Q5VVW2.
    PharmGKBi PA134861523.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG240885.
    HOGENOMi HOG000234088.
    HOVERGENi HBG059186.
    InParanoidi Q5VVW2.
    OMAi IHSVYTV.
    OrthoDBi EOG7S4X67.
    PhylomeDBi Q5VVW2.
    TreeFami TF318626.

    Miscellaneous databases

    GenomeRNAii 84253.
    NextBioi 35479303.
    PROi Q5VVW2.

    Gene expression databases

    ArrayExpressi Q5VVW2.
    Bgeei Q5VVW2.
    CleanExi HS_GARNL3.
    Genevestigatori Q5VVW2.

    Family and domain databases

    InterProi IPR001180. Citron.
    IPR000331. Rap_GAP_dom.
    [Graphical view ]
    Pfami PF00780. CNH. 1 hit.
    PF02145. Rap_GAP. 1 hit.
    [Graphical view ]
    PROSITEi PS50219. CNH. 1 hit.
    PS50085. RAPGAP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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 1; 3 AND 5).
      Tissue: Brain, Cerebellum and Thalamus.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Testis.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [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 1), VARIANT ARG-108.
      Tissue: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1013 (ISOFORM 2).
      Tissue: Amygdala.

    Entry informationi

    Entry nameiGARL3_HUMAN
    AccessioniPrimary (citable) accession number: Q5VVW2
    Secondary accession number(s): B4DEP7
    , B7Z3Q6, Q8IYU1, Q8N951, Q8ND89, Q9BQH6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 4, 2007
    Last sequence update: December 4, 2007
    Last modified: October 1, 2014
    This is version 88 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3