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Protein

DENN domain-containing protein 1C

Gene

DENND1C

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form.2 Publications

GO - Molecular functioni

  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:G66-30892-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Names & Taxonomyi

Protein namesi
Recommended name:
DENN domain-containing protein 1C
Alternative name(s):
Connecdenn 31 Publication
Protein FAM31C
Gene namesi
Name:DENND1C
Synonyms:FAM31C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26225. DENND1C.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000205744.
PharmGKBiPA134893022.

Polymorphism and mutation databases

BioMutaiDENND1C.
DMDMi74750652.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003046761 – 801DENN domain-containing protein 1CAdd BLAST801

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei553PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IV53.
MaxQBiQ8IV53.
PaxDbiQ8IV53.
PeptideAtlasiQ8IV53.
PRIDEiQ8IV53.

PTM databases

iPTMnetiQ8IV53.
PhosphoSitePlusiQ8IV53.

Expressioni

Gene expression databases

BgeeiENSG00000205744.
CleanExiHS_DENND1C.
ExpressionAtlasiQ8IV53. baseline and differential.
GenevisibleiQ8IV53. HS.

Organism-specific databases

HPAiHPA042758.
HPA042839.

Interactioni

Subunit structurei

Exhibits low nucleotide-independent RAB35-binding activity. Interacts with clathrin heavy chain/CLTC and with AP2A2, but not with AP2B1.1 Publication

Protein-protein interaction databases

BioGridi123027. 2 interactors.
IntActiQ8IV53. 1 interactor.
STRINGi9606.ENSP00000370889.

Structurei

3D structure databases

ProteinModelPortaliQ8IV53.
SMRiQ8IV53.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 89UDENNAdd BLAST68
Domaini90 – 293DENNPROSITE-ProRule annotationAdd BLAST204
Domaini324 – 391dDENNPROSITE-ProRule annotationAdd BLAST68

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi401 – 405FXDXF motifBy similarity5
Motifi558 – 567Clathrin boxBy similarity10

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

eggNOGiKOG3569. Eukaryota.
ENOG410XT3N. LUCA.
GeneTreeiENSGT00760000118819.
HOGENOMiHOG000112194.
HOVERGENiHBG103907.
InParanoidiQ8IV53.
KOiK20160.
OMAiQAFHRRA.
OrthoDBiEOG091G083L.
PhylomeDBiQ8IV53.
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. AlignAdd to basket

Isoform 1 (identifier: Q8IV53-1) [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
MESRAEGGSP AVFDWFFEAA CPASLQEDPP ILRQFPPDFR DQEAMQMVPK
60 70 80 90 100
FCFPFDVERE PPSPAVQHFT FALTDLAGNR RFGFCRLRAG TQSCLCILSH
110 120 130 140 150
LPWFEVFYKL LNTVGDLLAQ DQVTEAEELL QNLFQQSLSG PQASVGLELG
160 170 180 190 200
SGVTVSSGQG IPPPTRGNSK PLSCFVAPDS GRLPSIPENR NLTELVVAVT
210 220 230 240 250
DENIVGLFAA LLAERRVLLT ASKLSTLTSC VHASCALLYP MRWEHVLIPT
260 270 280 290 300
LPPHLLDYCC APMPYLIGVH ASLAERVREK ALEDVVVLNV DANTLETTFN
310 320 330 340 350
DVQALPPDVV SLLRLRLRKV ALAPGEGVSR LFLKAQALLF GGYRDALVCS
360 370 380 390 400
PGQPVTFSEE VFLAQKPGAP LQAFHRRAVH LQLFKQFIEA RLEKLNKGEG
410 420 430 440 450
FSDQFEQEIT GCGASSGALR SYQLWADNLK KGGGALLHSV KAKTQPAVKN
460 470 480 490 500
MYRSAKSGLK GVQSLLMYKD GDSVLQRGGS LRAPALPSRS DRLQQRLPIT
510 520 530 540 550
QHFGKNRPLR PSRRRQLEEG TSEPPGAGTP PLSPEDEGCP WAEEALDSSF
560 570 580 590 600
LGSGEELDLL SEILDSLSMG AKSAGSLRPS QSLDCCHRGD LDSCFSLPNI
610 620 630 640 650
PRWQPDDKKL PEPEPQPLSL PSLQNASSLD ATSSSKDSRS QLIPSESDQE
660 670 680 690 700
VTSPSQSSTA SADPSIWGDP KPSPLTEPLI LHLTPSHKAA EDSTAQENPT
710 720 730 740 750
PWLSTAPTEP SPPESPQILA PTKPNFDIAW TSQPLDPSSD PSSLEDPRAR
760 770 780 790 800
PPKALLAERA HLQPREEPGA LNSPATPTSN CQKSQPSSRP RVADLKKCFE

G
Length:801
Mass (Da):87,065
Last modified:March 1, 2003 - v1
Checksum:iE8CCC5C6FCBADCDF
GO
Isoform 2 (identifier: Q8IV53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: Missing.

Note: No experimental confirmation available.
Show »
Length:757
Mass (Da):82,126
Checksum:i63DBAF573E3BFDA3
GO

Sequence cautioni

The sequence BAB15475 differs from that shown. Reason: Frameshift at position 788.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti416S → P in BAB15475 (PubMed:14702039).Curated1
Sequence conflicti601P → L in BAB15475 (PubMed:14702039).Curated1
Sequence conflicti693S → F in BAB15475 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03505623A → T.Corresponds to variant rs10416003dbSNPEnsembl.1
Natural variantiVAR_035057489R → C.Corresponds to variant rs35001260dbSNPEnsembl.1
Natural variantiVAR_035058542A → V.Corresponds to variant rs35810378dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0406691 – 44Missing in isoform 2. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026410 mRNA. Translation: BAB15475.1. Frameshift.
AK303226 mRNA. Translation: BAG64313.1.
CH471139 Genomic DNA. Translation: EAW69082.1.
BC033437 mRNA. Translation: AAH33437.1.
AL834293 mRNA. Translation: CAD38966.1.
BK006959 mRNA. Translation: DAA12501.1.
CCDSiCCDS45938.1. [Q8IV53-1]
CCDS77225.1. [Q8IV53-2]
RefSeqiNP_001277260.1. NM_001290331.1. [Q8IV53-2]
NP_079174.2. NM_024898.3. [Q8IV53-1]
XP_006722969.1. XM_006722906.3. [Q8IV53-2]
XP_011526620.1. XM_011528318.2. [Q8IV53-2]
UniGeneiHs.236449.

Genome annotation databases

EnsembliENST00000381480; ENSP00000370889; ENSG00000205744. [Q8IV53-1]
ENST00000543576; ENSP00000437805; ENSG00000205744. [Q8IV53-2]
GeneIDi79958.
KEGGihsa:79958.
UCSCiuc002mfe.4. human. [Q8IV53-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026410 mRNA. Translation: BAB15475.1. Frameshift.
AK303226 mRNA. Translation: BAG64313.1.
CH471139 Genomic DNA. Translation: EAW69082.1.
BC033437 mRNA. Translation: AAH33437.1.
AL834293 mRNA. Translation: CAD38966.1.
BK006959 mRNA. Translation: DAA12501.1.
CCDSiCCDS45938.1. [Q8IV53-1]
CCDS77225.1. [Q8IV53-2]
RefSeqiNP_001277260.1. NM_001290331.1. [Q8IV53-2]
NP_079174.2. NM_024898.3. [Q8IV53-1]
XP_006722969.1. XM_006722906.3. [Q8IV53-2]
XP_011526620.1. XM_011528318.2. [Q8IV53-2]
UniGeneiHs.236449.

3D structure databases

ProteinModelPortaliQ8IV53.
SMRiQ8IV53.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123027. 2 interactors.
IntActiQ8IV53. 1 interactor.
STRINGi9606.ENSP00000370889.

PTM databases

iPTMnetiQ8IV53.
PhosphoSitePlusiQ8IV53.

Polymorphism and mutation databases

BioMutaiDENND1C.
DMDMi74750652.

Proteomic databases

EPDiQ8IV53.
MaxQBiQ8IV53.
PaxDbiQ8IV53.
PeptideAtlasiQ8IV53.
PRIDEiQ8IV53.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381480; ENSP00000370889; ENSG00000205744. [Q8IV53-1]
ENST00000543576; ENSP00000437805; ENSG00000205744. [Q8IV53-2]
GeneIDi79958.
KEGGihsa:79958.
UCSCiuc002mfe.4. human. [Q8IV53-1]

Organism-specific databases

CTDi79958.
GeneCardsiDENND1C.
H-InvDBHIX0014700.
HGNCiHGNC:26225. DENND1C.
HPAiHPA042758.
HPA042839.
MIMi613634. gene.
neXtProtiNX_Q8IV53.
OpenTargetsiENSG00000205744.
PharmGKBiPA134893022.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3569. Eukaryota.
ENOG410XT3N. LUCA.
GeneTreeiENSGT00760000118819.
HOGENOMiHOG000112194.
HOVERGENiHBG103907.
InParanoidiQ8IV53.
KOiK20160.
OMAiQAFHRRA.
OrthoDBiEOG091G083L.
PhylomeDBiQ8IV53.
TreeFamiTF320336.

Enzyme and pathway databases

BioCyciZFISH:G66-30892-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Miscellaneous databases

ChiTaRSiDENND1C. human.
GenomeRNAii79958.
PROiQ8IV53.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000205744.
CleanExiHS_DENND1C.
ExpressionAtlasiQ8IV53. baseline and differential.
GenevisibleiQ8IV53. HS.

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]
ProtoNetiSearch...

Entry informationi

Entry nameiDEN1C_HUMAN
AccessioniPrimary (citable) accession number: Q8IV53
Secondary accession number(s): B4E051
, D3PFD4, Q8NDB1, Q9H5Z2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: March 1, 2003
Last modified: November 30, 2016
This is version 97 of the entry and version 1 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 19
    Human chromosome 19: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.