Q68D51 (DEN2C_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DENN domain-containing protein 2C

Gene names

Name:

DENND2C

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	928 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Alternative splicing Polymorphism
Molecular function	Guanine-nucleotide releasing factor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	Rab 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 928	928	DENN domain-containing protein 2C		PRO_0000242684
Regions
	Domain	503 – 579	77	UDENN
	Domain	586 – 770	185	DENN
	Domain	814 – 881	68	dDENN
Natural variations
	Alternative sequence	354 – 410	57	Missing in isoform 3.		VSP_036782
	Alternative sequence	642 – 753	112	Missing in isoform 2.		VSP_019468
	Natural variant	2	1	D → E. Ref.1 Ref.3 Corresponds to variant rs7541738 [ dbSNP | Ensembl ].		VAR_026859
	Natural variant	170	1	D → G. Ref.1 Corresponds to variant rs12136548 [ dbSNP | Ensembl ].		VAR_026860
Experimental info
	Sequence conflict	392	1	K → Q in CAH18369. Ref.1
	Sequence conflict	769	1	A → T in BX647950. Ref.1
	Sequence conflict	774	1	Q → H in CAH18369. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: 2B450938D2199731	FASTA	928	106,865
	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
	Isoform 2 [UniParc]. Checksum: 53A00924CCC353FC	FASTA	816	94,506
	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 TLQDLPIEEV LIVDLCADKF 670 680 690 700 710 720 LQEVSDEDEI LPPKLQAALM QILEERNEIL TQEQNFSQDV TLNSLVSEAF VRFFVELVGH 730 740 750 760 770 780 YSLNMTVTER GERVFQREPF RKSHTSRSVR HFLDLFMETQ MFAGFIQDRE LRKSGVKGLF 790 800 810 EIRAIQYLET IPESEPSGMN RILRSLGSKM KFLQKK
	Isoform 3 [UniParc]. Checksum: 40384AD305D89269	FASTA	871	100,206
	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 PKLVLKIDDI 370 380 390 400 410 420 FESKRGKKKV KLHSYTGKEL PPTKGETSGN ESDAEYLPKN RHKRLAQLQP SSKRNPHYQT 430 440 450 460 470 480 LERDLIELQE QQLFELFVVV SLQKKPSGIS YIPQVIQQFP GKDDHGYKQS KDMEERLKVI 490 500 510 520 530 540 PKFCFPDSKD WMPTSELKSE TFSFVLTGED GSRWFGYCKK LLPVGKGKRL PEVYCMVSRL 550 560 570 580 590 600 GCFNLFSKIL DEVEKRREMS PALVYPFMRS VMEAPFPAPG RTITVKSYLP GAGDESIELC 610 620 630 640 650 660 RPLDSRLEHV DFKCLFKCLS VCHLIRVCAS LLLERRVIFV ANSLSTLSKC GHAVVATLYP 670 680 690 700 710 720 FTWQHTYIPV LPASMIDIVC SPTPFLIGIL SCSLPQLQDL PIEEVLIVDL CADKFLQEVS 730 740 750 760 770 780 DEDEILPPKL QAALMQILEE RNEILTQEQN FSQDVTLNSL VSEAFVRFFV ELVGHYSLNM 790 800 810 820 830 840 TVTERGERVF QREPFRKSHT SRSVRHFLDL FMETQMFAGF IQDRELRKSG VKGLFEIRAI 850 860 870 QYLETIPESE PSGMNRILRS LGSKMKFLQK K

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00470838. IPI00760939. IPI00843872.
RefSeq	NP_001243333.1. NM_001256404.1. NP_940861.3. NM_198459.3.
UniGene	Hs.654928.
3D structure databases
ProteinModelPortal	Q68D51.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000358553.
PTM databases
PhosphoSite	Q68D51.
Polymorphism databases
DMDM	109825713.
Proteomic databases
PaxDb	Q68D51.
PRIDE	Q68D51.
Protocols and materials databases
DNASU	163259.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000393274; ENSP00000376955; ENSG00000175984. ENST00000393276; ENSP00000376957; ENSG00000175984.
GeneID	163259.
KEGG	hsa:163259.
UCSC	uc001efc.1. human. uc001efd.1. human.
Organism-specific databases
CTD	163259.
GeneCards	GC01M115125.
H-InvDB	HIX0077409.
HGNC	HGNC:24748. DENND2C.
HPA	HPA029935.
neXtProt	NX_Q68D51.
PharmGKB	PA142671985.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG247048.
HOGENOM	HOG000273875.
HOVERGEN	HBG079980.
InParanoid	Q68D51.
OMA	FGVRYNC.
Gene expression databases
ArrayExpress	Q68D51.
Bgee	Q68D51.
CleanEx	HS_DENND2C.
Genevestigator	Q68D51.
GermOnline	ENSG00000175984. Homo sapiens.
Family and domain databases
InterPro	IPR005112. dDENN_dom. IPR001194. DENN_dom. IPR005113. uDENN_dom. [Graphical view]
Pfam	PF03455. dDENN. 1 hit. PF02141. DENN. 1 hit. PF03456. uDENN. 1 hit. [Graphical view]
SMART	SM00801. dDENN. 1 hit. SM00799. DENN. 1 hit. SM00800. uDENN. 1 hit. [Graphical view]
PROSITE	PS50947. DDENN. 1 hit. PS50211. DENN. 1 hit. PS50946. UDENN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DENND2C. human.
GenomeRNAi	163259.
NextBio	88347.

Entry information

Entry name

DEN2C_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.