DENND1B (DENN domain containing 1B)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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163486 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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DENN domain containing 1B |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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DENND1B |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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C1ORF18, C1orf218, FAM31B |
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Chromosome
Chromosome number
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1 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1q31.3 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| 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
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in dendritic and natural killer cells and at lower levels in other myeloid lineage cells and in pituitary. Significantly up-regulated in effector memory T-cells as compared with naive T-cells. {ECO:0000269|PubMed:20032 | ||||||||||||||||||||
| Sequence |
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| Sequence length | 775 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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