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DENND1B (DENN domain containing 1B)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
163486
Gene nameGene Name - the full gene name approved by the HGNC.
DENN domain containing 1B
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
DENND1B
SynonymsGene synonyms aliases
C1ORF18, C1orf218, FAM31B
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
SummarySummary of gene provided in NCBI Entrez Gene.
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT497954 hsa-miR-365a-3p PAR-CLIP 22291592
MIRT497953 hsa-miR-365b-3p PAR-CLIP 22291592
MIRT497952 hsa-miR-802 PAR-CLIP 22291592
MIRT497951 hsa-miR-532-5p PAR-CLIP 22291592
MIRT497950 hsa-miR-4312 PAR-CLIP 22291592
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 20937701
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0006897 Process Endocytosis IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6P3S1
Protein name DENN domain-containing protein 1B (Connecdenn 2) (Protein FAM31B)
Protein function Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells (PubMed:20154091, PubMed:20937701, PubMed:24520163, PubMed:26774822). Acts by promoting the exchange of GDP to GTP,
PDB 3TW8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03456 uDENN
29 88
uDENN domain
Domain
PF02141 DENN
92 291
DENN (AEX-3) domain
Family
PF03455 dDENN
355 405
dDENN domain
Domain
Sequence
MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERV
SQNQVGQHFTFVLTDIESKQRFGFCRLT
SGGTICLCILSYLPWFEVYYKLLNTLADYLAK
ELENDLNETLRSLYNHPVPKANTPVNLSVNQEIFIACEQVLKDQPALVPHSYFIAPDVTG
LPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLSTLTACIHGSAALLYPMY
WQHIYIPVLPPHLLDYCCAPMPYLIGIHSSLIERVKNKSLEDVVMLNVDTN
TLESPFSDL
NNLPSDVVSALKNKLKKQSTATGDGVARAFLRAQAALFGSYRDALRYKPGEPITFCEESF
VKHRSSVMKQFLETAINLQLFKQFIDGRLAKLNAGRGFSDVFEEE
ITSGGFCGGNPRSYQ
QWVHTVKKGGALFNTAMTKATPAVRTAYKFAKNHAKLGLKEVKSKLKHKENEEDYGTCSS
SVQYTPVYKLHNEKGGNSEKRKLAQARLKRPLKSLDGALYDDEDDDDIERASKLSSEDGE
EASAYLYESDDSVETRVKTPYSGEMDLLGEILDTLSTHSSDQGKLAAAKSLDFFRSMDDI
DYKPTNKSNAPSENNLAFLCGGSGDQAEWNLGQDDSALHGKHLPPSPRKRVSSSGLTDSL
FILKEENSNKHLGADNVSDPTSGLDFQLTSPEVSQTDKGKTEKRETLSQISDDLLIPGLG
RHSSTFVPWEKEGKEAKETSEDIGLLHEVVSLCHMTSDFQQSLNISDKNTNGNQT
Sequence length 775
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Asthma Asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 21907864
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 26192919, 23128233, 28067908
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 26974007
Unknown
Disease name Disease term dbSNP ID References
Ankylosing spondylitis Ankylosing spondylitis 26974007
Anxiety disorder Anxiety 29942085
Biliary cirrhosis Biliary cirrhosis, Biliary Cirrhosis, Primary, 1, Primary biliary cirrhosis 21399635, 22961000, 21399635, 26394269
Cholangitis Cholangitis, Sclerosing 26974007

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