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Q9H6A0

- DEN2D_HUMAN

UniProt

Q9H6A0 - DEN2D_HUMAN

Protein

DENN domain-containing protein 2D

Gene

DENND2D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 76 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

    Guanine nucleotide exchange factor (GEF) which may activate RAB9A and RAB9B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.1 Publication

    GO - Molecular functioni

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

    GO - Biological processi

    1. positive regulation of Rab GTPase activity Source: GOC

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DENN domain-containing protein 2D
    Gene namesi
    Name:DENND2D
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26192. DENND2D.

    Subcellular locationi

    Cytoplasm 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671986.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 471471DENN domain-containing protein 2DPRO_0000242686Add
    BLAST

    Proteomic databases

    MaxQBiQ9H6A0.
    PaxDbiQ9H6A0.
    PRIDEiQ9H6A0.

    PTM databases

    PhosphoSiteiQ9H6A0.

    Expressioni

    Tissue specificityi

    In bronchial mucosa, mainly expressed in ciliated and basal epithelial cells and weakly in alveolar cells (at protein level). Tends to be down-regulated in lung cancers, immortalized bronchial epithelial cell lines and precancerous lesions.1 Publication

    Gene expression databases

    ArrayExpressiQ9H6A0.
    BgeeiQ9H6A0.
    CleanExiHS_DENND2D.
    GenevestigatoriQ9H6A0.

    Organism-specific databases

    HPAiHPA043630.
    HPA048642.

    Interactioni

    Protein-protein interaction databases

    BioGridi123030. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H6A0.
    SMRiQ9H6A0. Positions 51-443.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini66 – 14277UDENNAdd
    BLAST
    Domaini149 – 333185DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini371 – 43868dDENNPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 dDENN domain.PROSITE-ProRule annotation
    Contains 1 DENN domain.PROSITE-ProRule annotation
    Contains 1 uDENN domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG261891.
    HOGENOMiHOG000273875.
    HOVERGENiHBG081431.
    InParanoidiQ9H6A0.
    OMAiPKVYCII.
    OrthoDBiEOG79GT6H.
    PhylomeDBiQ9H6A0.
    TreeFamiTF320336.

    Family and domain databases

    InterProiIPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    [Graphical view]
    PfamiPF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view]
    SMARTiSM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view]
    PROSITEiPS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H6A0-1) [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

    MEGQVVGRVF RLFQRRLLQL RAGPPQDNSG EALKEPERAQ EHSLPNFAGG    50
    QHFFEYLLVV SLKKKRSEDD YEPIITYQFP KRENLLRGQQ EEEERLLKAI 100
    PLFCFPDGNE WASLTEYPRE TFSFVLTNVD GSRKIGYCRR LLPAGPGPRL 150
    PKVYCIISCI GCFGLFSKIL DEVEKRHQIS MAVIYPFMQG LREAAFPAPG 200
    KTVTLKSFIP DSGTEFISLT RPLDSHLEHV DFSSLLHCLS FEQILQIFAS 250
    AVLERKIIFL AEGLSTLSQC IHAAAALLYP FSWAHTYIPV VPESLLATVC 300
    CPTPFMVGVQ MRFQQEVMDS PMEEVLLVNL CEGTFLMSVG DEKDILPPKL 350
    QDDILDSLGQ GINELKTAEQ INEHVSGPFV QFFVKIVGHY ASYIKREANG 400
    QGHFQERSFC KALTSKTNRR FVKKFVKTQL FSLFIQEAEK SKNPPAGYFQ 450
    QKILEYEEQK KQKKPREKTV K 471
    Length:471
    Mass (Da):53,672
    Last modified:June 27, 2006 - v2
    Checksum:iE885FA53369C738C
    GO
    Isoform 2 (identifier: Q9H6A0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-22: MEGQVVGRVFRLFQRRLLQLRA → MDGLGRRLRASLRLKRGHG

    Show »
    Length:468
    Mass (Da):53,148
    Checksum:i2F6006B83D86B465
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti185 – 1851Y → H in BAB15363. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti282 – 2821S → N.
    Corresponds to variant rs35742969 [ dbSNP | Ensembl ].
    VAR_050950

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2222MEGQV…LQLRA → MDGLGRRLRASLRLKRGHG in isoform 2. 1 PublicationVSP_019471Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026110 mRNA. Translation: BAB15363.1.
    AL355816 Genomic DNA. Translation: CAI19368.1.
    AL355816 Genomic DNA. Translation: CAI19369.1.
    BC004557 mRNA. Translation: AAH04557.1.
    CCDSiCCDS60219.1. [Q9H6A0-2]
    CCDS831.1. [Q9H6A0-1]
    RefSeqiNP_001258762.1. NM_001271833.1. [Q9H6A0-2]
    NP_079177.2. NM_024901.4. [Q9H6A0-1]
    UniGeneiHs.557850.

    Genome annotation databases

    EnsembliENST00000357640; ENSP00000350266; ENSG00000162777. [Q9H6A0-1]
    ENST00000369752; ENSP00000358767; ENSG00000162777. [Q9H6A0-2]
    GeneIDi79961.
    KEGGihsa:79961.
    UCSCiuc001eak.2. human. [Q9H6A0-1]
    uc001eal.2. human. [Q9H6A0-2]

    Polymorphism databases

    DMDMi109825794.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026110 mRNA. Translation: BAB15363.1 .
    AL355816 Genomic DNA. Translation: CAI19368.1 .
    AL355816 Genomic DNA. Translation: CAI19369.1 .
    BC004557 mRNA. Translation: AAH04557.1 .
    CCDSi CCDS60219.1. [Q9H6A0-2 ]
    CCDS831.1. [Q9H6A0-1 ]
    RefSeqi NP_001258762.1. NM_001271833.1. [Q9H6A0-2 ]
    NP_079177.2. NM_024901.4. [Q9H6A0-1 ]
    UniGenei Hs.557850.

    3D structure databases

    ProteinModelPortali Q9H6A0.
    SMRi Q9H6A0. Positions 51-443.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123030. 1 interaction.

    PTM databases

    PhosphoSitei Q9H6A0.

    Polymorphism databases

    DMDMi 109825794.

    Proteomic databases

    MaxQBi Q9H6A0.
    PaxDbi Q9H6A0.
    PRIDEi Q9H6A0.

    Protocols and materials databases

    DNASUi 79961.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000357640 ; ENSP00000350266 ; ENSG00000162777 . [Q9H6A0-1 ]
    ENST00000369752 ; ENSP00000358767 ; ENSG00000162777 . [Q9H6A0-2 ]
    GeneIDi 79961.
    KEGGi hsa:79961.
    UCSCi uc001eak.2. human. [Q9H6A0-1 ]
    uc001eal.2. human. [Q9H6A0-2 ]

    Organism-specific databases

    CTDi 79961.
    GeneCardsi GC01M111729.
    HGNCi HGNC:26192. DENND2D.
    HPAi HPA043630.
    HPA048642.
    MIMi 615111. gene.
    neXtProti NX_Q9H6A0.
    PharmGKBi PA142671986.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG261891.
    HOGENOMi HOG000273875.
    HOVERGENi HBG081431.
    InParanoidi Q9H6A0.
    OMAi PKVYCII.
    OrthoDBi EOG79GT6H.
    PhylomeDBi Q9H6A0.
    TreeFami TF320336.

    Miscellaneous databases

    GenomeRNAii 79961.
    NextBioi 69961.
    PROi Q9H6A0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H6A0.
    Bgeei Q9H6A0.
    CleanExi HS_DENND2D.
    Genevestigatori Q9H6A0.

    Family and domain databases

    InterProi IPR005112. dDENN_dom.
    IPR001194. DENN_dom.
    IPR005113. uDENN_dom.
    [Graphical view ]
    Pfami PF03455. dDENN. 1 hit.
    PF02141. DENN. 1 hit.
    PF03456. uDENN. 1 hit.
    [Graphical view ]
    SMARTi SM00801. dDENN. 1 hit.
    SM00799. DENN. 1 hit.
    SM00800. uDENN. 1 hit.
    [Graphical view ]
    PROSITEi PS50947. DDENN. 1 hit.
    PS50211. DENN. 1 hit.
    PS50946. UDENN. 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] (ISOFORM 2).
    2. "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].
    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 1).
      Tissue: Placenta.
    4. "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.
    5. "Suppression of non-small cell lung cancer proliferation and tumorigenicity by DENND2D."
      Ling B., Zheng H., Fu G., Yuan J., Shi T., Chen S., Liu Y., Liu Y., Cao Y., Zheng S., Guo S., Han N., Gao Y., Cheng S., Zhang K.
      Lung Cancer 79:104-110(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiDEN2D_HUMAN
    AccessioniPrimary (citable) accession number: Q9H6A0
    Secondary accession number(s): Q5T5V6, Q9BSU0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 76 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 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