Q9H6A0 (DEN2D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DENN domain-containing protein 2D

Gene names

Name:

DENND2D

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	471 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
Subcellular location	Cytoplasm Ref.5.
Tissue specificity	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. Ref.5
Sequence similarities	Contains 1 dDENN domain. Contains 1 DENN domain. Contains 1 uDENN domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Guanine-nucleotide releasing factor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	Rab guanyl-nucleotide exchange factor activity Inferred from direct assay Ref.4. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H6A0-1)

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: Q9H6A0-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 471	471	DENN domain-containing protein 2D		PRO_0000242686
Regions
	Domain	66 – 142	77	UDENN
	Domain	149 – 333	185	DENN
	Domain	371 – 438	68	dDENN
Natural variations
	Alternative sequence	1 – 22	22	MEGQV…LQLRA → MDGLGRRLRASLRLKRGHG in isoform 2.		VSP_019471
	Natural variant	282	1	S → N. Corresponds to variant rs35742969 [ dbSNP | Ensembl ].		VAR_050950
Experimental info
	Sequence conflict	185	1	Y → H in BAB15363. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 27, 2006. Version 2. Checksum: E885FA53369C738C	FASTA	471	53,672
	10 20 30 40 50 60 MEGQVVGRVF RLFQRRLLQL RAGPPQDNSG EALKEPERAQ EHSLPNFAGG QHFFEYLLVV 70 80 90 100 110 120 SLKKKRSEDD YEPIITYQFP KRENLLRGQQ EEEERLLKAI PLFCFPDGNE WASLTEYPRE 130 140 150 160 170 180 TFSFVLTNVD GSRKIGYCRR LLPAGPGPRL PKVYCIISCI GCFGLFSKIL DEVEKRHQIS 190 200 210 220 230 240 MAVIYPFMQG LREAAFPAPG KTVTLKSFIP DSGTEFISLT RPLDSHLEHV DFSSLLHCLS 250 260 270 280 290 300 FEQILQIFAS AVLERKIIFL AEGLSTLSQC IHAAAALLYP FSWAHTYIPV VPESLLATVC 310 320 330 340 350 360 CPTPFMVGVQ MRFQQEVMDS PMEEVLLVNL CEGTFLMSVG DEKDILPPKL QDDILDSLGQ 370 380 390 400 410 420 GINELKTAEQ INEHVSGPFV QFFVKIVGHY ASYIKREANG QGHFQERSFC KALTSKTNRR 430 440 450 460 470 FVKKFVKTQL FSLFIQEAEK SKNPPAGYFQ QKILEYEEQK KQKKPREKTV K
	Isoform 2 [UniParc]. Checksum: 2F6006B83D86B465	FASTA	468	53,148
	10 20 30 40 50 60 MDGLGRRLRA SLRLKRGHGG PPQDNSGEAL KEPERAQEHS LPNFAGGQHF FEYLLVVSLK 70 80 90 100 110 120 KKRSEDDYEP IITYQFPKRE NLLRGQQEEE ERLLKAIPLF CFPDGNEWAS LTEYPRETFS 130 140 150 160 170 180 FVLTNVDGSR KIGYCRRLLP AGPGPRLPKV YCIISCIGCF GLFSKILDEV EKRHQISMAV 190 200 210 220 230 240 IYPFMQGLRE AAFPAPGKTV TLKSFIPDSG TEFISLTRPL DSHLEHVDFS SLLHCLSFEQ 250 260 270 280 290 300 ILQIFASAVL ERKIIFLAEG LSTLSQCIHA AAALLYPFSW AHTYIPVVPE SLLATVCCPT 310 320 330 340 350 360 PFMVGVQMRF QQEVMDSPME EVLLVNLCEG TFLMSVGDEK DILPPKLQDD ILDSLGQGIN 370 380 390 400 410 420 ELKTAEQINE HVSGPFVQFF VKIVGHYASY IKREANGQGH FQERSFCKAL TSKTNRRFVK 430 440 450 460 KFVKTQLFSL FIQEAEKSKN PPAGYFQQKI LEYEEQKKQK KPREKTVK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK026110 mRNA. Translation: BAB15363.1. AL355816 Genomic DNA. Translation: CAI19368.1. AL355816 Genomic DNA. Translation: CAI19369.1. BC004557 mRNA. Translation: AAH04557.1.
IPI	IPI00165037. IPI00641666.
RefSeq	NP_001258762.1. NM_001271833.1. NP_079177.2. NM_024901.4.
UniGene	Hs.557850.
3D structure databases
ProteinModelPortal	Q9H6A0.
SMR	Q9H6A0. Positions 51-443.
ModBase	Search...
PTM databases
PhosphoSite	Q9H6A0.
Polymorphism databases
DMDM	109825794.
Proteomic databases
PaxDb	Q9H6A0.
PRIDE	Q9H6A0.
Protocols and materials databases
DNASU	79961.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357640; ENSP00000350266; ENSG00000162777. ENST00000369752; ENSP00000358767; ENSG00000162777.
GeneID	79961.
KEGG	hsa:79961.
UCSC	uc001eak.1. human. uc001eal.1. human.
Organism-specific databases
CTD	79961.
GeneCards	GC01M111729.
HGNC	HGNC:26192. DENND2D.
HPA	HPA043630. HPA048642.
MIM	615111. gene.
neXtProt	NX_Q9H6A0.
PharmGKB	PA142671986.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG261891.
HOGENOM	HOG000273875.
HOVERGEN	HBG081431.
InParanoid	Q9H6A0.
OMA	PDSGTEF.
PhylomeDB	Q9H6A0.
Gene expression databases
ArrayExpress	Q9H6A0.
Bgee	Q9H6A0.
CleanEx	HS_DENND2D.
Genevestigator	Q9H6A0.
GermOnline	ENSG00000162777. 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
GenomeRNAi	79961.
NextBio	69961.
SOURCE	Search...

Entry information

Entry name

DEN2D_HUMAN

Accession

Primary (citable) accession number: Q9H6A0
Secondary accession number(s): Q5T5V6, Q9BSU0

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	June 27, 2006
Last modified:	May 29, 2013
This is version 65 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.