Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57706
Gene name Gene Name - the full gene name approved by the HGNC.
DENN domain containing 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DENND1A
Synonyms (NCBI Gene) Gene synonyms aliases
FAM31A, KIAA1608
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q33.3
Summary Summary 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613633 29324 ENSG00000119522
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAB GEFs exchange GTP for GDP on RABs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Myopia Myopia, Degenerative rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
23049088
Rheumatoid arthritis Rheumatoid Arthritis rs587776843 30891314
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 30718901, 29700475 ClinVar
Polycystic Ovary Syndrome Polycystic Ovary Syndrome GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Habitual Associate 30844144
Hirsutism Associate 24086769
Hyperandrogenism Associate 22547425
Insulin Resistance Associate 32425888
Menstruation Disturbances Associate 22547425
Metabolic Syndrome Associate 32425888
Myotonic Dystrophy Associate 30844144
Polycystic Ovary Syndrome Associate 22180642, 22547425, 24086769, 24706793, 25303487, 25904635, 25978310, 26908109, 27297658, 30844144, 31941453, 32425888, 32574161, 37223019
Torticollis Associate 34320236