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A2RUS2

- DEND3_HUMAN

UniProt

A2RUS2 - DEND3_HUMAN

Protein

DENN domain-containing protein 3

Gene

DENND3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 74 (01 Oct 2014)
      Sequence version 2 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form. Thereby, may play a role in protein transport from recycling endosomes to lysosomes regulating, for instance, the degradation of the transferrin receptor.1 Publication

    GO - Molecular functioni

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

    GO - Biological processi

    1. cellular protein catabolic process Source: UniProtKB
    2. endosome to lysosome transport Source: UniProtKB
    3. positive regulation of Rab GTPase activity Source: GOC

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Enzyme and pathway databases

    SignaLinkiA2RUS2.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DENN domain-containing protein 3
    Gene namesi
    Name:DENND3
    Synonyms:KIAA0870
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:29134. DENND3.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671987.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11981198DENN domain-containing protein 3PRO_0000304672Add
    BLAST

    Proteomic databases

    MaxQBiA2RUS2.
    PaxDbiA2RUS2.
    PRIDEiA2RUS2.

    PTM databases

    PhosphoSiteiA2RUS2.

    Expressioni

    Gene expression databases

    ArrayExpressiA2RUS2.
    BgeeiA2RUS2.
    CleanExiHS_DENND3.
    GenevestigatoriA2RUS2.

    Organism-specific databases

    HPAiHPA026100.

    Interactioni

    Protein-protein interaction databases

    BioGridi116562. 3 interactions.
    IntActiA2RUS2. 5 interactions.
    STRINGi9606.ENSP00000262585.

    Structurei

    3D structure databases

    ProteinModelPortaliA2RUS2.
    SMRiA2RUS2. Positions 39-420, 919-1017.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini6 – 8378UDENNAdd
    BLAST
    Domaini105 – 291187DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini354 – 41764dDENNPROSITE-ProRule annotationAdd
    BLAST
    Repeati984 – 102643WD 1Add
    BLAST
    Repeati1073 – 111341WD 2Add
    BLAST
    Repeati1165 – 119834WD 3Add
    BLAST

    Sequence similaritiesi

    Contains 1 dDENN domain.PROSITE-ProRule annotation
    Contains 1 DENN domain.PROSITE-ProRule annotation
    Contains 1 uDENN domain.PROSITE-ProRule annotation
    Contains 3 WD repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, WD repeat

    Phylogenomic databases

    eggNOGiNOG115977.
    HOGENOMiHOG000060114.
    HOVERGENiHBG095574.
    InParanoidiA2RUS2.
    PhylomeDBiA2RUS2.
    TreeFamiTF331814.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PfamiPF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view]
    SMARTiSM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00320. WD40. 3 hits.
    [Graphical view]
    SUPFAMiSSF50978. SSF50978. 1 hit.
    PROSITEiPS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 1 hit.
    PS00678. WD_REPEATS_1. 1 hit.
    PS50294. WD_REPEATS_REGION. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A2RUS2-1) [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

    MRSLRKKREK PRPEQWKGLP GPPRAPEPED VAVPGGVDLL TLPQLCFPGG     50
    VCVATEPKED CVHFLVLTDV CGNRTYGVVA QYYRPLHDEY CFYNGKTHRE 100
    CPGCFVPFAV CVVSRFPYYN SLKDCLSCLL ALLKPCKDFE VDSHIKDFAA 150
    KLSLIPSPPP GPLHLVFNMK SLQIVLPARA DPESPILDLD LHLPLLCFRP 200
    EKVLQILTCI LTEQRIVFFS SDWALLTLVT ECFMAYLYPL QWQHPFVPIL 250
    SDQMLDFVMA PTSFLMGCHL DHFEEVSKEA DGLVLINIDH GSITYSKSTD 300
    DNVDIPDVPL LAAQTFIQRV QSLQLHHELH AAHLLSSTDL KEGRAHRRSW 350
    QQKLNCQIQQ TTLQLLVSIF RDVKNHLNYE HRVFNSEEFL KTRAPGDHQF 400
    YKQVLDTYMF HSFLKARLNR RMDAFAQMDL DTQSEEDRIN GMLLSPRRPT 450
    VEKRASRKSS HLHVTHRRMV VSMPNLQDIA MPELAPRNSS LRLTDTAGCR 500
    GSSAVLNVTP KSPYTFKIPE IHFPLESKCV QAYHAHFVSM LSEAMCFLAP 550
    DNSLLLARYL YLRGLVYLMQ GQLLNALLDF QNLYKTDIRI FPTDLVKRTV 600
    ESMSAPEWEG AEQAPELMRL ISEILDKPHE ASKLDDHVKK FKLPKKHMQL 650
    GDFMKRVQES GIVKDASIIH RLFEALTVGQ EKQIDPETFK DFYNCWKETE 700
    AEAQEVSLPW LVMEHLDKNE CVCKLSSSVK TNLGVGKIAM TQKRLFLLTE 750
    GRPGYLEIST FRNIEEVRRT TTTFLLRRIP TLKIRVASKK EVFEANLKTE 800
    CDLWHLMVKE MWAGKKLADD HKDPHYVQQA LTNVLLMDAV VGTLQSPGAI 850
    YAASKLSYFD KMSNEMPMTL PETTLETLKH KINPSAGEAF PQAVDVLLYT 900
    PGHLDPAEKV EDAHPKLWCA LSEGKVTVFN ASSWTIHQHS FKVGTAKVNC 950
    MVMADQNQVW VGSEDSVIYI INVHSMSCNK QLTAHCSSVT DLIVQDGQEA 1000
    PSNVYSCSMD GMVLVWNVST LQVTSRFQLP RGGLTSIRLH GGRLWCCTGN 1050
    SIMVMKMNGS LHQELKIEEN FKDTSTSFLA FQLLPEEEQL WAACAGRSEV 1100
    YIWSLKDLAQ PPQRVPLEDC SEINCMIRVK KQVWVGSRGL GQGTPKGKIY 1150
    VIDAERKTVE KELVAHMDTV RTLCSAEDRY VLSGSGREEG KVAIWKGE 1198
    Length:1,198
    Mass (Da):135,890
    Last modified:September 11, 2007 - v2
    Checksum:i52D51635DDD88A4E
    GO
    Isoform 2 (identifier: A2RUS2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         319-370: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,146
    Mass (Da):129,809
    Checksum:iB8D7B60A600DDD0C
    GO
    Isoform 3 (identifier: A2RUS2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-950: Missing.
         1133-1198: VWVGSRGLGQ...EGKVAIWKGE → VGWRARHPQH...PNWMASNDRT

    Note: No experimental confirmation available.

    Show »
    Length:266
    Mass (Da):29,486
    Checksum:iB5D62298848A4332
    GO
    Isoform 4 (identifier: A2RUS2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         128-128: C → W
         129-1198: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:128
    Mass (Da):14,509
    Checksum:iB5E0DB642AC3F733
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti143 – 1431S → N.
    Corresponds to variant rs307761 [ dbSNP | Ensembl ].
    VAR_035053
    Natural varianti364 – 3641Q → R.
    Corresponds to variant rs11997191 [ dbSNP | Ensembl ].
    VAR_035054

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 950950Missing in isoform 3. 1 PublicationVSP_028075Add
    BLAST
    Alternative sequencei128 – 1281C → W in isoform 4. 1 PublicationVSP_028077
    Alternative sequencei129 – 11981070Missing in isoform 4. 1 PublicationVSP_028078Add
    BLAST
    Alternative sequencei319 – 37052Missing in isoform 2. 1 PublicationVSP_028080Add
    BLAST
    Alternative sequencei1133 – 119866VWVGS…IWKGE → VGWRARHPQHPRQVSLALAA SPCSREPAARPRALLPSPLR VPLLTGTCRVGANGPTGHHV LVSWCGPSTPQRIPPNWMAS NDRT in isoform 3. 1 PublicationVSP_028081Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK058001 mRNA. Translation: BAB71630.1.
    AK131505 mRNA. Translation: BAD18649.1.
    AC040970 Genomic DNA. No translation available.
    BC133023 mRNA. Translation: AAI33024.1.
    BC144226 mRNA. Translation: AAI44227.1.
    AB020677 mRNA. Translation: BAA74893.2.
    CCDSiCCDS34947.1. [A2RUS2-1]
    RefSeqiNP_055772.2. NM_014957.2. [A2RUS2-1]
    UniGeneiHs.18166.

    Genome annotation databases

    EnsembliENST00000262585; ENSP00000262585; ENSG00000105339. [A2RUS2-1]
    ENST00000424248; ENSP00000410594; ENSG00000105339. [A2RUS2-2]
    GeneIDi22898.
    KEGGihsa:22898.
    UCSCiuc003yvy.3. human. [A2RUS2-1]
    uc003ywa.1. human. [A2RUS2-3]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK058001 mRNA. Translation: BAB71630.1 .
    AK131505 mRNA. Translation: BAD18649.1 .
    AC040970 Genomic DNA. No translation available.
    BC133023 mRNA. Translation: AAI33024.1 .
    BC144226 mRNA. Translation: AAI44227.1 .
    AB020677 mRNA. Translation: BAA74893.2 .
    CCDSi CCDS34947.1. [A2RUS2-1 ]
    RefSeqi NP_055772.2. NM_014957.2. [A2RUS2-1 ]
    UniGenei Hs.18166.

    3D structure databases

    ProteinModelPortali A2RUS2.
    SMRi A2RUS2. Positions 39-420, 919-1017.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116562. 3 interactions.
    IntActi A2RUS2. 5 interactions.
    STRINGi 9606.ENSP00000262585.

    PTM databases

    PhosphoSitei A2RUS2.

    Proteomic databases

    MaxQBi A2RUS2.
    PaxDbi A2RUS2.
    PRIDEi A2RUS2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262585 ; ENSP00000262585 ; ENSG00000105339 . [A2RUS2-1 ]
    ENST00000424248 ; ENSP00000410594 ; ENSG00000105339 . [A2RUS2-2 ]
    GeneIDi 22898.
    KEGGi hsa:22898.
    UCSCi uc003yvy.3. human. [A2RUS2-1 ]
    uc003ywa.1. human. [A2RUS2-3 ]

    Organism-specific databases

    CTDi 22898.
    GeneCardsi GC08P142156.
    H-InvDB HIX0007822.
    HGNCi HGNC:29134. DENND3.
    HPAi HPA026100.
    neXtProti NX_A2RUS2.
    PharmGKBi PA142671987.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG115977.
    HOGENOMi HOG000060114.
    HOVERGENi HBG095574.
    InParanoidi A2RUS2.
    PhylomeDBi A2RUS2.
    TreeFami TF331814.

    Enzyme and pathway databases

    SignaLinki A2RUS2.

    Miscellaneous databases

    GenomeRNAii 22898.
    NextBioi 43523.
    PROi A2RUS2.

    Gene expression databases

    ArrayExpressi A2RUS2.
    Bgeei A2RUS2.
    CleanExi HS_DENND3.
    Genevestigatori A2RUS2.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR001680. WD40_repeat.
    IPR019775. WD40_repeat_CS.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    Pfami PF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    PF00400. WD40. 1 hit.
    [Graphical view ]
    SMARTi SM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00320. WD40. 3 hits.
    [Graphical view ]
    SUPFAMi SSF50978. SSF50978. 1 hit.
    PROSITEi PS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 1 hit.
    PS00678. WD_REPEATS_1. 1 hit.
    PS50294. WD_REPEATS_REGION. 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 3 AND 4).
      Tissue: Gastric mucosa and Uterus.
    2. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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).
      Tissue: Brain.
    4. "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] OF 180-1146 (ISOFORM 1).
      Tissue: Brain.
    5. "Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors."
      Yoshimura S., Gerondopoulos A., Linford A., Rigden D.J., Barr F.A.
      J. Cell Biol. 191:367-381(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS GUANYL-NUCLEOTIDE EXCHANGE FACTOR.

    Entry informationi

    Entry nameiDEND3_HUMAN
    AccessioniPrimary (citable) accession number: A2RUS2
    Secondary accession number(s): B7ZM28
    , O94947, Q2TAM7, Q6ZMS6, Q96DK3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 74 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 8
      Human chromosome 8: 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