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Q68D51

- DEN2C_HUMAN

UniProt

Q68D51 - DEN2C_HUMAN

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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

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
Complete GO annotation...

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

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.
GeneTreeiENSGT00760000118819.
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

        10         20         30         40         50
MDVGFSRTTV QTLSRSHCKN IKQKISQWEG RANGISNPEK WCPKDFGVRY
60 70 80 90 100
NCHQEIRLKK NPIAERKSKN LDVTSRENVG LDINENTKSH DQSENENKKH
110 120 130 140 150
EYDDTHFFKN ESESNWVCSR VKEIESCKED VLDPETSLPP GNFYTSQILW
160 170 180 190 200
KKIEALPPDK LLNLALEHCD SSEKELNFRV LDSSYGITKS LENIYSEPEG
210 220 230 240 250
QECGPSINPL PKPRRTFRYL SESGVTPYKE RNCDKKYCEN NSCAQSSLAS
260 270 280 290 300
SQEPEPKKYG GKIRGRSKRK SFEFEDIQHF RNRNSQTIRE ELGRNSGSAL
310 320 330 340 350
YYTQSEDNIY EDIIYPTKEN PYEDIPVQPL PMWRSPSAWK LPPAKSAFKA
360 370 380 390 400
PKLPPKPQFL HRKTMEVKNS QAYLRSKLTK DTTLPVTLTE WKLFRAGEVA
410 420 430 440 450
NTKRKNLPRL VLKIDDIFES KRGKKKVKLH SYTGKELPPT KGETSGNESD
460 470 480 490 500
AEYLPKNRHK RLAQLQPSSK RNPHYQTLER DLIELQEQQL FELFVVVSLQ
510 520 530 540 550
KKPSGISYIP QVIQQFPGKD DHGYKQSKDM EERLKVIPKF CFPDSKDWMP
560 570 580 590 600
TSELKSETFS FVLTGEDGSR WFGYCKKLLP VGKGKRLPEV YCMVSRLGCF
610 620 630 640 650
NLFSKILDEV EKRREMSPAL VYPFMRSVME APFPAPGRTI TVKSYLPGAG
660 670 680 690 700
DESIELCRPL DSRLEHVDFK CLFKCLSVCH LIRVCASLLL ERRVIFVANS
710 720 730 740 750
LSTLSKCGHA VVATLYPFTW QHTYIPVLPA SMIDIVCSPT PFLIGILSCS
760 770 780 790 800
LPQLQDLPIE EVLIVDLCAD KFLQEVSDED EILPPKLQAA LMQILEERNE
810 820 830 840 850
ILTQEQNFSQ DVTLNSLVSE AFVRFFVELV GHYSLNMTVT ERGERVFQRE
860 870 880 890 900
PFRKSHTSRS VRHFLDLFME TQMFAGFIQD RELRKSGVKG LFEIRAIQYL
910 920
ETIPESEPSG MNRILRSLGS KMKFLQKK
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:
EMBLi
GenBanki
DDBJi
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]
ENST00000393277; ENSP00000376958; ENSG00000175984. [Q68D51-1]
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:
EMBLi
GenBanki
DDBJi
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 ]
ENST00000393277 ; ENSP00000376958 ; ENSG00000175984 . [Q68D51-1 ]
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.
GeneTreei ENSGT00760000118819.
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

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

« Hide 'large scale' publications
  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 29, 2014
This is version 82 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