Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q68D51 (DEN2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DENN domain-containing protein 2C
Gene names
Name:DENND2C
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length928 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Sequence similarities

Contains 1 dDENN domain.

Contains 1 DENN domain.

Contains 1 uDENN domain.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionGuanine-nucleotide releasing factor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of Rab GTPase activity

Inferred from direct assay Ref.4. Source: GOC

   Molecular_functionRab guanyl-nucleotide exchange factor activity

Inferred from direct assay Ref.4. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q68D51-1)

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.
Isoform 2 (identifier: Q68D51-2)

The sequence of this isoform differs from the canonical sequence as follows:
     642-753: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q68D51-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 928928DENN domain-containing protein 2C
PRO_0000242684

Regions

Domain503 – 57977UDENN
Domain586 – 770185DENN
Domain814 – 88168dDENN

Natural variations

Alternative sequence354 – 41057Missing in isoform 3.
VSP_036782
Alternative sequence642 – 753112Missing in isoform 2.
VSP_019468
Natural variant21D → E. Ref.1 Ref.3
Corresponds to variant rs7541738 [ dbSNP | Ensembl ].
VAR_026859
Natural variant1701D → G. Ref.1
Corresponds to variant rs12136548 [ dbSNP | Ensembl ].
VAR_026860

Experimental info

Sequence conflict3921K → Q in CAH18369. Ref.1
Sequence conflict7691A → T in BX647950. Ref.1
Sequence conflict7741Q → H in CAH18369. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 27, 2006. Version 2.
Checksum: 2B450938D2199731

FASTA928106,865
        10         20         30         40         50         60 
MDVGFSRTTV QTLSRSHCKN IKQKISQWEG RANGISNPEK WCPKDFGVRY NCHQEIRLKK 

        70         80         90        100        110        120 
NPIAERKSKN LDVTSRENVG LDINENTKSH DQSENENKKH EYDDTHFFKN ESESNWVCSR 

       130        140        150        160        170        180 
VKEIESCKED VLDPETSLPP GNFYTSQILW KKIEALPPDK LLNLALEHCD SSEKELNFRV 

       190        200        210        220        230        240 
LDSSYGITKS LENIYSEPEG QECGPSINPL PKPRRTFRYL SESGVTPYKE RNCDKKYCEN 

       250        260        270        280        290        300 
NSCAQSSLAS SQEPEPKKYG GKIRGRSKRK SFEFEDIQHF RNRNSQTIRE ELGRNSGSAL 

       310        320        330        340        350        360 
YYTQSEDNIY EDIIYPTKEN PYEDIPVQPL PMWRSPSAWK LPPAKSAFKA PKLPPKPQFL 

       370        380        390        400        410        420 
HRKTMEVKNS QAYLRSKLTK DTTLPVTLTE WKLFRAGEVA NTKRKNLPRL VLKIDDIFES 

       430        440        450        460        470        480 
KRGKKKVKLH SYTGKELPPT KGETSGNESD AEYLPKNRHK RLAQLQPSSK RNPHYQTLER 

       490        500        510        520        530        540 
DLIELQEQQL FELFVVVSLQ KKPSGISYIP QVIQQFPGKD DHGYKQSKDM EERLKVIPKF 

       550        560        570        580        590        600 
CFPDSKDWMP TSELKSETFS FVLTGEDGSR WFGYCKKLLP VGKGKRLPEV YCMVSRLGCF 

       610        620        630        640        650        660 
NLFSKILDEV EKRREMSPAL VYPFMRSVME APFPAPGRTI TVKSYLPGAG DESIELCRPL 

       670        680        690        700        710        720 
DSRLEHVDFK CLFKCLSVCH LIRVCASLLL ERRVIFVANS LSTLSKCGHA VVATLYPFTW 

       730        740        750        760        770        780 
QHTYIPVLPA SMIDIVCSPT PFLIGILSCS LPQLQDLPIE EVLIVDLCAD KFLQEVSDED 

       790        800        810        820        830        840 
EILPPKLQAA LMQILEERNE ILTQEQNFSQ DVTLNSLVSE AFVRFFVELV GHYSLNMTVT 

       850        860        870        880        890        900 
ERGERVFQRE PFRKSHTSRS VRHFLDLFME TQMFAGFIQD RELRKSGVKG LFEIRAIQYL 

       910        920 
ETIPESEPSG MNRILRSLGS KMKFLQKK 

« Hide

Isoform 2 [UniParc].

Checksum: 53A00924CCC353FC
Show »

FASTA81694,506
Isoform 3 [UniParc].

Checksum: 40384AD305D89269
Show »

FASTA871100,206

References

« Hide 'large scale' references
[1]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001243333.1. NM_001256404.1.
NP_940861.3. NM_198459.3.
UniGeneHs.654928.

3D structure databases

ProteinModelPortalQ68D51.
SMRQ68D51. Positions 510-881.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127862. 1 interaction.
STRING9606.ENSP00000358553.

PTM databases

PhosphoSiteQ68D51.

Polymorphism databases

DMDM109825713.

Proteomic databases

PaxDbQ68D51.
PRIDEQ68D51.

Protocols and materials databases

DNASU163259.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000393274; ENSP00000376955; ENSG00000175984. [Q68D51-1]
ENST00000393276; ENSP00000376957; ENSG00000175984. [Q68D51-3]
GeneID163259.
KEGGhsa:163259.
UCSCuc001efc.1. human. [Q68D51-3]
uc001efd.1. human. [Q68D51-1]

Organism-specific databases

CTD163259.
GeneCardsGC01M115125.
H-InvDBHIX0077409.
HGNCHGNC:24748. DENND2C.
HPAHPA029935.
neXtProtNX_Q68D51.
PharmGKBPA142671985.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG247048.
HOGENOMHOG000273875.
HOVERGENHBG079980.
InParanoidQ68D51.
OMARKYCENN.
OrthoDBEOG79GT6H.
PhylomeDBQ68D51.
TreeFamTF320336.

Gene expression databases

ArrayExpressQ68D51.
BgeeQ68D51.
CleanExHS_DENND2C.
GenevestigatorQ68D51.

Family and domain databases

InterProIPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR005113. uDENN_dom.
[Graphical view]
PfamPF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF03456. uDENN. 1 hit.
[Graphical view]
SMARTSM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00800. uDENN. 1 hit.
[Graphical view]
PROSITEPS50947. DDENN. 1 hit.
PS50211. DENN. 1 hit.
PS50946. UDENN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDENND2C. human.
GenomeRNAi163259.
NextBio88347.
PROQ68D51.

Entry information

Entry nameDEN2C_HUMAN
AccessionPrimary (citable) accession number: Q68D51
Secondary accession number(s): B1AL26, Q5TCX6, Q6P3R3
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: April 16, 2014
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM