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Q68D51

- DEN2C_HUMAN

UniProt

Q68D51 - DEN2C_HUMAN

Protein

DENN domain-containing protein 2C

Gene

DENND2C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 81 (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 2C
    Gene namesi
    Name:DENND2C
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:24748. DENND2C.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671985.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 928928DENN domain-containing protein 2CPRO_0000242684Add
    BLAST

    Proteomic databases

    MaxQBiQ68D51.
    PaxDbiQ68D51.
    PRIDEiQ68D51.

    PTM databases

    PhosphoSiteiQ68D51.

    Expressioni

    Gene expression databases

    ArrayExpressiQ68D51.
    BgeeiQ68D51.
    CleanExiHS_DENND2C.
    GenevestigatoriQ68D51.

    Organism-specific databases

    HPAiHPA029935.

    Interactioni

    Protein-protein interaction databases

    BioGridi127862. 1 interaction.
    STRINGi9606.ENSP00000358553.

    Structurei

    3D structure databases

    ProteinModelPortaliQ68D51.
    SMRiQ68D51. Positions 510-881.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini503 – 57977UDENNAdd
    BLAST
    Domaini586 – 770185DENNPROSITE-ProRule annotationAdd
    BLAST
    Domaini814 – 88168dDENNPROSITE-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

    eggNOGiNOG247048.
    HOGENOMiHOG000273875.
    HOVERGENiHBG079980.
    InParanoidiQ68D51.
    OMAiRKYCENN.
    OrthoDBiEOG79GT6H.
    PhylomeDBiQ68D51.
    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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q68D51-1) [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

    MDVGFSRTTV QTLSRSHCKN IKQKISQWEG RANGISNPEK WCPKDFGVRY    50
    NCHQEIRLKK NPIAERKSKN LDVTSRENVG LDINENTKSH DQSENENKKH 100
    EYDDTHFFKN ESESNWVCSR VKEIESCKED VLDPETSLPP GNFYTSQILW 150
    KKIEALPPDK LLNLALEHCD SSEKELNFRV LDSSYGITKS LENIYSEPEG 200
    QECGPSINPL PKPRRTFRYL SESGVTPYKE RNCDKKYCEN NSCAQSSLAS 250
    SQEPEPKKYG GKIRGRSKRK SFEFEDIQHF RNRNSQTIRE ELGRNSGSAL 300
    YYTQSEDNIY EDIIYPTKEN PYEDIPVQPL PMWRSPSAWK LPPAKSAFKA 350
    PKLPPKPQFL HRKTMEVKNS QAYLRSKLTK DTTLPVTLTE WKLFRAGEVA 400
    NTKRKNLPRL VLKIDDIFES KRGKKKVKLH SYTGKELPPT KGETSGNESD 450
    AEYLPKNRHK RLAQLQPSSK RNPHYQTLER DLIELQEQQL FELFVVVSLQ 500
    KKPSGISYIP QVIQQFPGKD DHGYKQSKDM EERLKVIPKF CFPDSKDWMP 550
    TSELKSETFS FVLTGEDGSR WFGYCKKLLP VGKGKRLPEV YCMVSRLGCF 600
    NLFSKILDEV EKRREMSPAL VYPFMRSVME APFPAPGRTI TVKSYLPGAG 650
    DESIELCRPL DSRLEHVDFK CLFKCLSVCH LIRVCASLLL ERRVIFVANS 700
    LSTLSKCGHA VVATLYPFTW QHTYIPVLPA SMIDIVCSPT PFLIGILSCS 750
    LPQLQDLPIE EVLIVDLCAD KFLQEVSDED EILPPKLQAA LMQILEERNE 800
    ILTQEQNFSQ DVTLNSLVSE AFVRFFVELV GHYSLNMTVT ERGERVFQRE 850
    PFRKSHTSRS VRHFLDLFME TQMFAGFIQD RELRKSGVKG LFEIRAIQYL 900
    ETIPESEPSG MNRILRSLGS KMKFLQKK 928
    Length:928
    Mass (Da):106,865
    Last modified:June 27, 2006 - v2
    Checksum:i2B450938D2199731
    GO
    Isoform 2 (identifier: Q68D51-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         642-753: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:816
    Mass (Da):94,506
    Checksum:i53A00924CCC353FC
    GO
    Isoform 3 (identifier: Q68D51-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         354-410: Missing.

    Show »
    Length:871
    Mass (Da):100,206
    Checksum:i40384AD305D89269
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti392 – 3921K → Q in CAH18369. (PubMed:17974005)Curated
    Sequence conflicti769 – 7691A → T in BX647950. (PubMed:17974005)Curated
    Sequence conflicti774 – 7741Q → H in CAH18369. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21D → E.2 Publications
    Corresponds to variant rs7541738 [ dbSNP | Ensembl ].
    VAR_026859
    Natural varianti170 – 1701D → G.1 Publication
    Corresponds to variant rs12136548 [ dbSNP | Ensembl ].
    VAR_026860

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei354 – 41057Missing in isoform 3. 1 PublicationVSP_036782Add
    BLAST
    Alternative sequencei642 – 753112Missing in isoform 2. 1 PublicationVSP_019468Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX647950 mRNA. No translation available.
    CR749576 mRNA. Translation: CAH18369.1.
    AL133382 Genomic DNA. Translation: CAI19301.1.
    AL133382 Genomic DNA. Translation: CAM27633.1.
    BC063894 mRNA. No translation available.
    CCDSiCCDS58018.1. [Q68D51-1]
    CCDS875.1. [Q68D51-3]
    RefSeqiNP_001243333.1. NM_001256404.1. [Q68D51-1]
    NP_940861.3. NM_198459.3. [Q68D51-3]
    UniGeneiHs.654928.

    Genome annotation databases

    EnsembliENST00000393274; ENSP00000376955; ENSG00000175984. [Q68D51-1]
    ENST00000393276; ENSP00000376957; ENSG00000175984. [Q68D51-3]
    GeneIDi163259.
    KEGGihsa:163259.
    UCSCiuc001efc.1. human. [Q68D51-3]
    uc001efd.1. human. [Q68D51-1]

    Polymorphism databases

    DMDMi109825713.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    BX647950 mRNA. No translation available.
    CR749576 mRNA. Translation: CAH18369.1 .
    AL133382 Genomic DNA. Translation: CAI19301.1 .
    AL133382 Genomic DNA. Translation: CAM27633.1 .
    BC063894 mRNA. No translation available.
    CCDSi CCDS58018.1. [Q68D51-1 ]
    CCDS875.1. [Q68D51-3 ]
    RefSeqi NP_001243333.1. NM_001256404.1. [Q68D51-1 ]
    NP_940861.3. NM_198459.3. [Q68D51-3 ]
    UniGenei Hs.654928.

    3D structure databases

    ProteinModelPortali Q68D51.
    SMRi Q68D51. Positions 510-881.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127862. 1 interaction.
    STRINGi 9606.ENSP00000358553.

    PTM databases

    PhosphoSitei Q68D51.

    Polymorphism databases

    DMDMi 109825713.

    Proteomic databases

    MaxQBi Q68D51.
    PaxDbi Q68D51.
    PRIDEi Q68D51.

    Protocols and materials databases

    DNASUi 163259.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393274 ; ENSP00000376955 ; ENSG00000175984 . [Q68D51-1 ]
    ENST00000393276 ; ENSP00000376957 ; ENSG00000175984 . [Q68D51-3 ]
    GeneIDi 163259.
    KEGGi hsa:163259.
    UCSCi uc001efc.1. human. [Q68D51-3 ]
    uc001efd.1. human. [Q68D51-1 ]

    Organism-specific databases

    CTDi 163259.
    GeneCardsi GC01M115125.
    H-InvDB HIX0077409.
    HGNCi HGNC:24748. DENND2C.
    HPAi HPA029935.
    neXtProti NX_Q68D51.
    PharmGKBi PA142671985.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG247048.
    HOGENOMi HOG000273875.
    HOVERGENi HBG079980.
    InParanoidi Q68D51.
    OMAi RKYCENN.
    OrthoDBi EOG79GT6H.
    PhylomeDBi Q68D51.
    TreeFami TF320336.

    Miscellaneous databases

    ChiTaRSi DENND2C. human.
    GenomeRNAii 163259.
    NextBioi 88347.
    PROi Q68D51.

    Gene expression databases

    ArrayExpressi Q68D51.
    Bgeei Q68D51.
    CleanExi HS_DENND2C.
    Genevestigatori Q68D51.

    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS GLU-2 AND GLY-170.
      Tissue: Testis.
    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 2), VARIANT GLU-2.
      Tissue: Testis.
    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.

    Entry informationi

    Entry nameiDEN2C_HUMAN
    AccessioniPrimary (citable) accession number: Q68D51
    Secondary accession number(s): B1AL26, Q5TCX6, Q6P3R3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 81 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3