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Protein

DENN domain-containing protein 5A

Gene

DENND5A

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

Functioni

Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Names & Taxonomyi

Protein namesi
Recommended name:
DENN domain-containing protein 5A
Alternative name(s):
Rab6-interacting protein 1
Short name:
Rab6IP1
Gene namesi
Name:DENND5A
Synonyms:KIAA1091, RAB6IP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000184014.7.
HGNCiHGNC:19344. DENND5A.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Epileptic encephalopathy, early infantile, 49 (EIEE49)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features.
See also OMIM:617281
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078555541D → G in EIEE49. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MIMi617281. phenotype.
OpenTargetsiENSG00000184014.
PharmGKBiPA164718737.

Polymorphism and mutation databases

BioMutaiDENND5A.
DMDMi317373354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000971421 – 1287DENN domain-containing protein 5AAdd BLAST1287

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei193PhosphoserineCombined sources1
Modified residuei1079PhosphothreonineBy similarity1
Modified residuei1085PhosphoserineBy similarity1
Modified residuei1087PhosphoserineCombined sources1
Modified residuei1096PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6IQ26.
MaxQBiQ6IQ26.
PaxDbiQ6IQ26.
PeptideAtlasiQ6IQ26.
PRIDEiQ6IQ26.

PTM databases

iPTMnetiQ6IQ26.
PhosphoSitePlusiQ6IQ26.

Expressioni

Gene expression databases

BgeeiENSG00000184014.
CleanExiHS_DENND5A.
ExpressionAtlasiQ6IQ26. baseline and differential.
GenevisibleiQ6IQ26. HS.

Organism-specific databases

HPAiHPA052923.
HPA055009.

Interactioni

Subunit structurei

Interacts with RAB6A bound to GTP.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
GOLGA6L9A6NEM14EBI-2856768,EBI-5916454

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116861. 5 interactors.
IntActiQ6IQ26. 4 interactors.
MINTiMINT-8247429.
STRINGi9606.ENSP00000328524.

Structurei

3D structure databases

ProteinModelPortaliQ6IQ26.
SMRiQ6IQ26.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini57 – 259uDENNPROSITE-ProRule annotationAdd BLAST203
Domaini278 – 414cDENNPROSITE-ProRule annotationAdd BLAST137
Domaini416 – 598dDENNPROSITE-ProRule annotationAdd BLAST183
Domaini787 – 950RUN 1PROSITE-ProRule annotationAdd BLAST164
Domaini954 – 1062PLATPROSITE-ProRule annotationAdd BLAST109
Domaini1134 – 1282RUN 2PROSITE-ProRule annotationAdd BLAST149

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi3 – 9Poly-Gly7
Compositional biasi593 – 598Poly-Asp6

Sequence similaritiesi

Belongs to the RAB6IP1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2080. Eukaryota.
ENOG410XNYP. LUCA.
GeneTreeiENSGT00760000118819.
HOGENOMiHOG000019389.
HOVERGENiHBG059906.
InParanoidiQ6IQ26.
KOiK20164.
OMAiAWVRLSM.
OrthoDBiEOG091G00VU.
PhylomeDBiQ6IQ26.
TreeFamiTF313237.

Family and domain databases

Gene3Di2.60.60.20. 1 hit.
InterProiView protein in InterPro
IPR005112. dDENN_dom.
IPR001194. DENN_dom.
IPR001024. PLAT/LH2_dom.
IPR036392. PLAT/LH2_dom_sf.
IPR004012. Run_dom.
IPR037213. Run_dom_sf.
IPR005113. uDENN_dom.
PfamiView protein in Pfam
PF03455. dDENN. 1 hit.
PF02141. DENN. 1 hit.
PF01477. PLAT. 1 hit.
PF02759. RUN. 2 hits.
PF03456. uDENN. 1 hit.
SMARTiView protein in SMART
SM00801. dDENN. 1 hit.
SM00799. DENN. 1 hit.
SM00593. RUN. 2 hits.
SM00800. uDENN. 1 hit.
SUPFAMiSSF140741. SSF140741. 3 hits.
SSF49723. SSF49723. 1 hit.
PROSITEiView protein in PROSITE
PS50211. DENN. 1 hit.
PS50095. PLAT. 1 hit.
PS50826. RUN. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6IQ26-1) [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
MSGGGGGGGS APSRFADYFV ICGLDTETGL EPDELSALCQ YIQASKARDG
60 70 80 90 100
ASPFISSTTE GENFEQTPLR RTFKSKVLAR YPENVEWNPF DQDAVGMLCM
110 120 130 140 150
PKGLAFKTQA DPREPQFHAF IITREDGSRT FGFALTFYEE VTSKQICSAM
160 170 180 190 200
QTLYHMHNAE YDVLHAPPAD DRDQSSMEDG EDTPVTKLQR FNSYDISRDT
210 220 230 240 250
LYVSKCICLI TPMSFMKACR SVLEQLHQAV TSPQPPPLPL ESYIYNVLYE
260 270 280 290 300
VPLPPPGRSL KFSGVYGPII CQRPSTNELP LFDFPVKEVF ELLGVENVFQ
310 320 330 340 350
LFTCALLEFQ ILLYSQHYQR LMTVAETITA LMFPFQWQHV YVPILPASLL
360 370 380 390 400
HFLDAPVPYL MGLHSNGLDD RSKLELPQEA NLCFVDIDNH FIELPEDLPQ
410 420 430 440 450
FPNKLEFVQE VSEILMAFGI PPEGNLHCSE SASKLKRLRA SELVSDKRNG
460 470 480 490 500
NIAGSPLHSY ELLKENETIA RLQALVKRTG VSLEKLEVRE DPSSNKDLKV
510 520 530 540 550
QCDEEELRIY QLNIQIREVF ANRFTQMFAD YEVFVIQPSQ DKESWFTNRE
560 570 580 590 600
QMQNFDKASF LSDQPEPYLP FLSRFLETQM FASFIDNKIM CHDDDDKDPV
610 620 630 640 650
LRVFDSRVDK IRLLNVRTPT LRTSMYQKCT TVDEAEKAIE LRLAKIDHTA
660 670 680 690 700
IHPHLLDMKI GQGKYEPGFF PKLQSDVLST GPASNKWTKR NAPAQWRRKD
710 720 730 740 750
RQKQHTEHLR LDNDQREKYI QEARTMGSTI RQPKLSNLSP SVIAQTNWKF
760 770 780 790 800
VEGLLKECRN KTKRMLVEKM GREAVELGHG EVNITGVEEN TLIASLCDLL
810 820 830 840 850
ERIWSHGLQV KQGKSALWSH LLHYQDNRQR KLTSGSLSTS GILLDSERRK
860 870 880 890 900
SDASSLMPPL RISLIQDMRH IQNIGEIKTD VGKARAWVRL SMEKKLLSRH
910 920 930 940 950
LKQLLSDHEL TKKLYKRYAF LRCDDEKEQF LYHLLSFNAV DYFCFTNVFT
960 970 980 990 1000
TILIPYHILI VPSKKLGGSM FTANPWICIS GELGETQIMQ IPRNVLEMTF
1010 1020 1030 1040 1050
ECQNLGKLTT VQIGHDNSGL YAKWLVEYVM VRNEITGHTY KFPCGRWLGK
1060 1070 1080 1090 1100
GMDDGSLERI LVGELLTSQP EVDERPCRTP PLQQSPSVIR RLVTISPNNK
1110 1120 1130 1140 1150
PKLNTGQIQE SIGEAVNGIV KHFHKPEKER GSLTLLLCGE CGLVSALEQA
1160 1170 1180 1190 1200
FQHGFKSPRL FKNVFIWDFL EKAQTYYETL EKNEVVPEEN WHTRARNFCR
1210 1220 1230 1240 1250
FVTAINNTPR NIGKDGKFQM LVCLGARDHL LHHWIALLAD CPITAHMYED
1260 1270 1280
VALIKDHTLV NSLIRVLQTL QEFNITLETS LVKGIDI
Length:1,287
Mass (Da):147,096
Last modified:January 11, 2011 - v2
Checksum:i7633D36BE076C576
GO
Isoform 2 (identifier: Q6IQ26-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1216-1287: GKFQMLVCLG...ETSLVKGIDI → EITSYTTGLPCWLTAPSLHTCMRMWH

Note: No experimental confirmation available.
Show »
Length:1,241
Mass (Da):141,982
Checksum:iB6767A498123DC4E
GO

Sequence cautioni

Q6IQ26: The sequence BAA83043 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
Q6IQ26: The sequence BAB15155 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti597K → E in BAB15155 (PubMed:14702039).Curated1
Sequence conflicti929Q → R in BAG58677 (PubMed:14702039).Curated1
Sequence conflicti998M → V in BAG58677 (PubMed:14702039).Curated1
Sequence conflicti1100K → E in BAB15155 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028409224E → Q3 PublicationsCorresponds to variant dbSNP:rs952374Ensembl.1
Natural variantiVAR_078555541D → G in EIEE49. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0446881216 – 1287GKFQM…KGIDI → EITSYTTGLPCWLTAPSLHT CMRMWH in isoform 2. 1 PublicationAdd BLAST72

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029014 mRNA. Translation: BAA83043.1. Different initiation.
AK025499 mRNA. Translation: BAB15155.1. Different initiation.
AK295881 mRNA. Translation: BAG58677.1.
AL117448 mRNA. Translation: CAB55932.2.
AC055845 Genomic DNA. No translation available.
AC079296 Genomic DNA. No translation available.
AP006259 Genomic DNA. No translation available.
BC009354 mRNA. Translation: AAH09354.2.
BC071596 mRNA. Translation: AAH71596.1.
CCDSiCCDS31423.1. [Q6IQ26-1]
CCDS58119.1. [Q6IQ26-2]
PIRiT17242.
RefSeqiNP_001230183.1. NM_001243254.1. [Q6IQ26-2]
NP_001335677.1. NM_001348748.1. [Q6IQ26-1]
NP_056028.2. NM_015213.3. [Q6IQ26-1]
UniGeneiHs.501857.

Genome annotation databases

EnsembliENST00000328194; ENSP00000328524; ENSG00000184014. [Q6IQ26-1]
ENST00000530044; ENSP00000435866; ENSG00000184014. [Q6IQ26-2]
GeneIDi23258.
KEGGihsa:23258.
UCSCiuc001mhl.5. human. [Q6IQ26-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDEN5A_HUMAN
AccessioniPrimary (citable) accession number: Q6IQ26
Secondary accession number(s): B4DJ15
, E9PS91, Q96GN3, Q9H6U7, Q9UFV0, Q9UPR1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: January 11, 2011
Last modified: October 25, 2017
This is version 126 of the entry and version 2 of the sequence. See 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 11
    Human chromosome 11: 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