Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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57706 |
Gene nameGene Name - the full gene name approved by the HGNC.
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DENN domain containing 1A |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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DENND1A |
SynonymsGene synonyms aliases
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FAM31A, KIAA1608 |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q33.3 |
SummarySummary 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 DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase |
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
Q8TEH3 |
Protein name |
DENN domain-containing protein 1A (Connecdenn 1) (Connecdenn) (Protein FAM31A) |
Protein function |
Guanine nucleotide exchange factor (GEF) regulating clathrin-mediated endocytosis through RAB35 activation. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB35 into its active GTP-bound form. Regulates clathrin-mediated endo |
PDB |
6EKK
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03456 |
uDENN |
31 → 89 |
uDENN domain |
Domain |
PF02141 |
DENN |
93 → 273 |
DENN (AEX-3) domain |
Family |
PF03455 |
dDENN |
337 → 388 |
dDENN domain |
Domain |
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Sequence |
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Sequence length |
1009 |
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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Myopia |
Myopia, Degenerative |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 |
23049088 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
30891314 |
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