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Q9H6A0

- DEN2D_HUMAN

UniProt

Q9H6A0 - DEN2D_HUMAN

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Protein

DENN domain-containing protein 2D

Gene

DENND2D

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 2D
Gene namesi
Name:DENND2D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:26192. DENND2D.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671986.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 471471DENN domain-containing protein 2DPRO_0000242686Add
BLAST

Proteomic databases

MaxQBiQ9H6A0.
PaxDbiQ9H6A0.
PRIDEiQ9H6A0.

PTM databases

PhosphoSiteiQ9H6A0.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiQ9H6A0.
CleanExiHS_DENND2D.
ExpressionAtlasiQ9H6A0. baseline and differential.
GenevestigatoriQ9H6A0.

Organism-specific databases

HPAiHPA043630.
HPA048642.

Interactioni

Protein-protein interaction databases

BioGridi123030. 24 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9H6A0.
SMRiQ9H6A0. Positions 51-443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini66 – 14277UDENNAdd
BLAST
Domaini149 – 333185DENNPROSITE-ProRule annotationAdd
BLAST
Domaini371 – 43868dDENNPROSITE-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

eggNOGiNOG261891.
GeneTreeiENSGT00760000118819.
HOGENOMiHOG000273875.
HOVERGENiHBG081431.
InParanoidiQ9H6A0.
OMAiPKVYCII.
OrthoDBiEOG79GT6H.
PhylomeDBiQ9H6A0.
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 (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H6A0-1) [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
MEGQVVGRVF RLFQRRLLQL RAGPPQDNSG EALKEPERAQ EHSLPNFAGG
60 70 80 90 100
QHFFEYLLVV SLKKKRSEDD YEPIITYQFP KRENLLRGQQ EEEERLLKAI
110 120 130 140 150
PLFCFPDGNE WASLTEYPRE TFSFVLTNVD GSRKIGYCRR LLPAGPGPRL
160 170 180 190 200
PKVYCIISCI GCFGLFSKIL DEVEKRHQIS MAVIYPFMQG LREAAFPAPG
210 220 230 240 250
KTVTLKSFIP DSGTEFISLT RPLDSHLEHV DFSSLLHCLS FEQILQIFAS
260 270 280 290 300
AVLERKIIFL AEGLSTLSQC IHAAAALLYP FSWAHTYIPV VPESLLATVC
310 320 330 340 350
CPTPFMVGVQ MRFQQEVMDS PMEEVLLVNL CEGTFLMSVG DEKDILPPKL
360 370 380 390 400
QDDILDSLGQ GINELKTAEQ INEHVSGPFV QFFVKIVGHY ASYIKREANG
410 420 430 440 450
QGHFQERSFC KALTSKTNRR FVKKFVKTQL FSLFIQEAEK SKNPPAGYFQ
460 470
QKILEYEEQK KQKKPREKTV K
Length:471
Mass (Da):53,672
Last modified:June 27, 2006 - v2
Checksum:iE885FA53369C738C
GO
Isoform 2 (identifier: Q9H6A0-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:468
Mass (Da):53,148
Checksum:i2F6006B83D86B465
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti185 – 1851Y → H in BAB15363. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti282 – 2821S → N.
Corresponds to variant rs35742969 [ dbSNP | Ensembl ].
VAR_050950

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2222MEGQV…LQLRA → MDGLGRRLRASLRLKRGHG in isoform 2. 1 PublicationVSP_019471Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026110 mRNA. Translation: BAB15363.1.
AL355816 Genomic DNA. Translation: CAI19368.1.
AL355816 Genomic DNA. Translation: CAI19369.1.
BC004557 mRNA. Translation: AAH04557.1.
CCDSiCCDS60219.1. [Q9H6A0-2]
CCDS831.1. [Q9H6A0-1]
RefSeqiNP_001258762.1. NM_001271833.1. [Q9H6A0-2]
NP_079177.2. NM_024901.4. [Q9H6A0-1]
UniGeneiHs.557850.

Genome annotation databases

EnsembliENST00000357640; ENSP00000350266; ENSG00000162777. [Q9H6A0-1]
ENST00000369752; ENSP00000358767; ENSG00000162777. [Q9H6A0-2]
GeneIDi79961.
KEGGihsa:79961.
UCSCiuc001eak.2. human. [Q9H6A0-1]
uc001eal.2. human. [Q9H6A0-2]

Polymorphism databases

DMDMi109825794.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026110 mRNA. Translation: BAB15363.1 .
AL355816 Genomic DNA. Translation: CAI19368.1 .
AL355816 Genomic DNA. Translation: CAI19369.1 .
BC004557 mRNA. Translation: AAH04557.1 .
CCDSi CCDS60219.1. [Q9H6A0-2 ]
CCDS831.1. [Q9H6A0-1 ]
RefSeqi NP_001258762.1. NM_001271833.1. [Q9H6A0-2 ]
NP_079177.2. NM_024901.4. [Q9H6A0-1 ]
UniGenei Hs.557850.

3D structure databases

ProteinModelPortali Q9H6A0.
SMRi Q9H6A0. Positions 51-443.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123030. 24 interactions.

PTM databases

PhosphoSitei Q9H6A0.

Polymorphism databases

DMDMi 109825794.

Proteomic databases

MaxQBi Q9H6A0.
PaxDbi Q9H6A0.
PRIDEi Q9H6A0.

Protocols and materials databases

DNASUi 79961.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000357640 ; ENSP00000350266 ; ENSG00000162777 . [Q9H6A0-1 ]
ENST00000369752 ; ENSP00000358767 ; ENSG00000162777 . [Q9H6A0-2 ]
GeneIDi 79961.
KEGGi hsa:79961.
UCSCi uc001eak.2. human. [Q9H6A0-1 ]
uc001eal.2. human. [Q9H6A0-2 ]

Organism-specific databases

CTDi 79961.
GeneCardsi GC01M111729.
HGNCi HGNC:26192. DENND2D.
HPAi HPA043630.
HPA048642.
MIMi 615111. gene.
neXtProti NX_Q9H6A0.
PharmGKBi PA142671986.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG261891.
GeneTreei ENSGT00760000118819.
HOGENOMi HOG000273875.
HOVERGENi HBG081431.
InParanoidi Q9H6A0.
OMAi PKVYCII.
OrthoDBi EOG79GT6H.
PhylomeDBi Q9H6A0.
TreeFami TF320336.

Miscellaneous databases

ChiTaRSi DENND2D. human.
GenomeRNAii 79961.
NextBioi 69961.
PROi Q9H6A0.
SOURCEi Search...

Gene expression databases

Bgeei Q9H6A0.
CleanExi HS_DENND2D.
ExpressionAtlasi Q9H6A0. baseline and differential.
Genevestigatori Q9H6A0.

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. "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.

Entry informationi

Entry nameiDEN2D_HUMAN
AccessioniPrimary (citable) accession number: Q9H6A0
Secondary accession number(s): Q5T5V6, Q9BSU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: November 26, 2014
This is version 78 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3