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DENND1A (DENN domain containing 1A)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57706
Gene nameGene Name - the full gene name approved by the HGNC.
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.
DENND1A
SynonymsGene synonyms aliases
FAM31A, KIAA1608
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.3
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 DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026656 hsa-miR-192-5p Microarray 19074876
MIRT027739 hsa-miR-98-5p Microarray 19088304
MIRT932178 hsa-miR-1827 CLIP-seq
MIRT932179 hsa-miR-1915 CLIP-seq
MIRT932180 hsa-miR-3652 CLIP-seq
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:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
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
Sequence
MGSRIKQNPETTFEVYVEVAYPRTGGTLSDPEVQRQFPEDYSDQEVLQTLTKFCFPFYVD
SLTVSQVGQNFTFVLTDIDSKQRFGFCRL
SSGAKSCFCILSYLPWFEVFYKLLNILADYT
TKRQENQWNELLETLHKLPIPDPGVSVHLSVHSYFTVPDTRELPSIPENRNLTEYFVAVD
VNNMLHLYASMLYERRILIICSKLSTLTACIHGSAAMLYPMYWQHVYIPVLPPHLLDYCC
APMPYLIGIHLSLMEKVRNMALDDVVILNVDTN
TLETPFDDLQSLPNDVISSLKNRLKKV
STTTGDGVARAFLKAQAAFFGSYRNALKIEPEEPITFCEEAFVSHYRSGAMRQFLQNATQ
LQLFKQFIDGRLDLLNSGEGFSDVFEEE
INMGEYAGSDKLYHQWLSTVRKGSGAILNTVK
TKANPAMKTVYKFAKDHAKMGIKEVKNRLKQKDIAENGCAPTPEEQLPKTAPSPLVEAKD
PKLREDRRPITVHFGQVRPPRPHVVKRPKSNIAVEGRRTSVPSPEQPQPYRTLRESDSAE
GDEAESPEQQVRKSTGPVPAPPDRAASIDLLEDVFSNLDMEAALQPLGQAKSLEDLRAPK
DLREQPGTFDYQRLDLGGSERSRGVTVALKLTHPYNKLWSLGQDDMAIPSKPPAASPEKP
SALLGNSLALPRRPQNRDSILNPSDKEEVPTPTLGSITIPRPQGRKTPELGIVPPPPIPR
PAKLQAAGAALGDVSERLQTDRDRRAALSPGLLPGVVPQGPTELLQPLSPGPGAAGTSSD
ALLALLDPLSTAWSGSTLPSRPATPNVATPFTPQFSFPPAGTPTPFPQPPLNPFVPSMPA
APPTLPLVSTPAGPFGAPPASLGPAFASGLLLSSAGFCAPHRSQPNLSALSMPNLFGQMP
MGTHTSPLQPLGPPAVAPSRIRTLPLARSSARAAETKQGLALRPGDPPLLPPRPPQGLEP
TLQPSAPQQARDPFEDLLQKTKQDVSPSPALAPAPDSVEQLRKQWETFE
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.
 
Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases
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
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety 29942085
Mental depression Major Depressive Disorder rs587778876, rs587778877 30718901, 29700475
Polycystic ovary syndrome Polycystic Ovary Syndrome 21151128, 22885925, 30566500

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