DENND1B
entrez
163486
canonical
uniprot
Q6P3S1
canonical
ensembl
ENSG00000213047
resolver
ensp
ENSP00000235453
resolver
ensp
ENSP00000356366
resolver
ensp
ENSP00000479816
resolver
ensp
ENSP00000557164
resolver
ensp
ENSP00000653527
resolver
ensp
ENSP00000781630
resolver
genesymbol
DENND1B
resolver
genesymbol_syn
C1orf218
resolver
genesymbol_syn
FAM31B
resolver
hgnc
HGNC:28404
resolver
uniprot
B5MD89
resolver
uniprot
D3PFD5
resolver
uniprot
Q5T3B8
resolver
uniprot
Q5T3B9
resolver
uniprot
Q5T3C1
resolver
uniprot
Q5TAI8
resolver
uniprot
Q6B0I8
resolver
uniprot
Q8NDT1
resolver
uniprot
Q8TBE6
resolver
uniprot
Q9H774
resolver
uniprot
Q9NXU2
resolver
uniprot_entry
DEN1B_HUMAN
resolver
uniprot_sec
B5MD89
resolver
uniprot_sec
D3PFD5
resolver
uniprot_sec
Q5T3B8
resolver
uniprot_sec
Q5T3B9
resolver
uniprot_sec
Q5T3C1
resolver
uniprot_sec
Q5TAI8
resolver
uniprot_sec
Q6B0I8
resolver
uniprot_sec
Q8NDT1
resolver
uniprot_sec
Q8TBE6
resolver
uniprot_sec
Q9H774
resolver
uniprot_sec
Q9NXU2
resolver
amino_acid_sequence
MDCRTKANPDRTFDLVLKVKCHASENEDPVVLWKFPEDFGDQEILQSVPKFCFPFDVERVSQNQVGQHFTFVLTDIESKQRFGFCRLTSGGTICLCILSYLPWFEVYYKLLNTLADYLAKELENDLNETLRSLYNHPVPKANTPVNLSVNQEIFIACEQVLKDQPALVPHSYFIAPDVTGLPTIPESRNLTEYFVAVDVNNMLQLYASMLHERRIVIISSKLSTLTACIHGSAALLYPMYWQHIYIPVLPPHLLDYCCAPMPYLIGIHSSLIERVKNKSLEDVVMLNVDTNTLESPFSDLNNLPSDVVSALKNKLKKQSTATGDGVARAFLRAQAALFGSYRDALRYKPGEPITFCEESFVKHRSSVMKQFLETAINLQLFKQFIDGRLAKLNAGRGFSDVFEEEITSGGFCGGNPRSYQQWVHTVKKGGALFNTAMTKATPAVRTAYKFAKNHAKLGLKEVKSKLKHKENEEDYGTCSSSVQYTPVYKLHNEKGGNSEKRKLAQARLKRPLKSLDGALYDDEDDDDIERASKLSSEDGEEASAYLYESDDSVETRVKTPYSGEMDLLGEILDTLSTHSSDQGKLAAAKSLDFFRSMDDIDYKPTNKSNAPSENNLAFLCGGSGDQAEWNLGQDDSALHGKHLPPSPRKRVSSSGLTDSLFILKEENSNKHLGADNVSDPTSGLDFQLTSPEVSQTDKGKTEKRETLSQISDDLLIPGLGRHSSTFVPWEKEGKEAKETSEDIGLLHEVVSLCHMTSDFQQSLNISDKNTNGNQT
uniprot
proteins
disease_involvement
DISEASE: Asthma (ASTHMA) [MIM:600807]: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi. {ECO:0000269|PubMed:20032318, ECO:0000269|PubMed:26774822}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Asthma susceptibility is probably caused by decreased TCR down-modulation and recycling in TH2 cells, causing prolonged TCR signaling and increased cytokine production in TH2 lymphocytes (PubMed:26774822). {ECO:0000269|PubMed:26774822}.
uniprot
proteins
function
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, converting inactive GDP-bound RAB35 into its active GTP-bound form (PubMed:20154091, PubMed:20937701). Plays a role in clathrin-mediated endocytosis (PubMed:20154091). Controls cytokine production in TH2 lymphocytes by controlling the rate of TCR internalization and routing to endosomes: acts by mediating clathrin-mediated endocytosis of TCR via its interaction with the adapter protein complex 2 (AP-2) and GEF activity (PubMed:26774822). Dysregulation leads to impaired TCR down-modulation and recycling, affecting cytokine production in TH2 cells (PubMed:26774822). {ECO:0000269|PubMed:20154091, ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:24520163, ECO:0000269|PubMed:26774822}.
uniprot
proteins
mass_dalton
86552
uniprot
proteins
mutagenesis
MUTAGEN 489; /note="K->A: Causes only a slight reduction in AP2B1-binding."; /evidence="ECO:0000269|PubMed:20154091"; MUTAGEN 500; /note="K->A: Greatly reduces AP2B1-binding."; /evidence="ECO:0000269|PubMed:20154091"; MUTAGEN 501; /note="R->A: No effect."; /evidence="ECO:0000269|PubMed:20154091"; MUTAGEN 502; /note="K->A: Almost completely abolishes AP2B1-binding."; /evidence="ECO:0000269|PubMed:20154091"; MUTAGEN 507; /note="R->A: No effect."; /evidence="ECO:0000269|PubMed:20154091"; MUTAGEN 509; /note="K->A: Greatly reduces AP2B1-binding."; /evidence="ECO:0000269|PubMed:20154091
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine and/or threonine, possibly regulating the guanine nucleotide exchange factor (GEF) activity. {ECO:0000269|PubMed:26055712}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20032318
uniprot
proteins
pubmed
20154091
uniprot
proteins
pubmed
20937701
uniprot
proteins
pubmed
22065758
uniprot
proteins
pubmed
24520163
uniprot
proteins
pubmed
26055712
uniprot
proteins
pubmed
26774822
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20154091}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:20154091}.
uniprot
proteins