Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57706
Gene name	DENN domain containing 1A
Gene symbol	DENND1A
Synonyms (NCBI Gene)	FAM31AKIAA1608
Chromosome	9
Chromosome location	9q33.3
Summary	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

164

Show/Hide all (164)

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
MIRT932181	hsa-miR-3692	CLIP-seq
MIRT932182	hsa-miR-3940-5p	CLIP-seq
MIRT932183	hsa-miR-4297	CLIP-seq
MIRT932184	hsa-miR-4430	CLIP-seq
MIRT932185	hsa-miR-4507	CLIP-seq
MIRT932186	hsa-miR-4649-3p	CLIP-seq
MIRT932187	hsa-miR-4726-3p	CLIP-seq
MIRT932188	hsa-miR-582-3p	CLIP-seq
MIRT932189	hsa-miR-622	CLIP-seq
MIRT1975971	hsa-miR-1285	CLIP-seq
MIRT1975972	hsa-miR-1302	CLIP-seq
MIRT1975973	hsa-miR-130a	CLIP-seq
MIRT1975974	hsa-miR-130b	CLIP-seq
MIRT932178	hsa-miR-1827	CLIP-seq
MIRT1975975	hsa-miR-301a	CLIP-seq
MIRT1975976	hsa-miR-301b	CLIP-seq
MIRT1975977	hsa-miR-3117-3p	CLIP-seq
MIRT1975978	hsa-miR-3122	CLIP-seq
MIRT1975979	hsa-miR-3132	CLIP-seq
MIRT1975980	hsa-miR-3169	CLIP-seq
MIRT1975981	hsa-miR-3187-5p	CLIP-seq
MIRT1975982	hsa-miR-3591-5p	CLIP-seq
MIRT1975983	hsa-miR-361-3p	CLIP-seq
MIRT1975984	hsa-miR-3664-3p	CLIP-seq
MIRT1975985	hsa-miR-3666	CLIP-seq
MIRT932181	hsa-miR-3692	CLIP-seq
MIRT1975986	hsa-miR-3913-5p	CLIP-seq
MIRT1975987	hsa-miR-3918	CLIP-seq
MIRT1975988	hsa-miR-4271	CLIP-seq
MIRT1975989	hsa-miR-4292	CLIP-seq
MIRT1975990	hsa-miR-4295	CLIP-seq
MIRT932183	hsa-miR-4297	CLIP-seq
MIRT1975991	hsa-miR-4298	CLIP-seq
MIRT1975992	hsa-miR-4330	CLIP-seq
MIRT1975993	hsa-miR-4473	CLIP-seq
MIRT1975994	hsa-miR-4497	CLIP-seq
MIRT1975995	hsa-miR-4530	CLIP-seq
MIRT1975996	hsa-miR-454	CLIP-seq
MIRT1975997	hsa-miR-4640-3p	CLIP-seq
MIRT1975998	hsa-miR-4646-3p	CLIP-seq
MIRT932186	hsa-miR-4649-3p	CLIP-seq
MIRT1975999	hsa-miR-4671-3p	CLIP-seq
MIRT1976000	hsa-miR-4725-3p	CLIP-seq
MIRT1976001	hsa-miR-4747-5p	CLIP-seq
MIRT1976002	hsa-miR-4759	CLIP-seq
MIRT1976003	hsa-miR-486-3p	CLIP-seq
MIRT1976004	hsa-miR-490-3p	CLIP-seq
MIRT1976005	hsa-miR-612	CLIP-seq
MIRT1976006	hsa-miR-615-5p	CLIP-seq
MIRT932189	hsa-miR-622	CLIP-seq
MIRT1976007	hsa-miR-625	CLIP-seq
MIRT1976008	hsa-miR-635	CLIP-seq
MIRT1976009	hsa-miR-873	CLIP-seq
MIRT1976010	hsa-miR-922	CLIP-seq
MIRT2211369	hsa-miR-1224-3p	CLIP-seq
MIRT2211370	hsa-miR-1226	CLIP-seq
MIRT2211371	hsa-miR-1245b-5p	CLIP-seq
MIRT2211372	hsa-miR-1255a	CLIP-seq
MIRT2211373	hsa-miR-1255b	CLIP-seq
MIRT2211374	hsa-miR-1260	CLIP-seq
MIRT2211375	hsa-miR-1260b	CLIP-seq
MIRT2211376	hsa-miR-1280	CLIP-seq
MIRT1975971	hsa-miR-1285	CLIP-seq
MIRT2211377	hsa-miR-1287	CLIP-seq
MIRT2211378	hsa-miR-1301	CLIP-seq
MIRT2211379	hsa-miR-138	CLIP-seq
MIRT932178	hsa-miR-1827	CLIP-seq
MIRT2211380	hsa-miR-188-3p	CLIP-seq
MIRT2211381	hsa-miR-1909	CLIP-seq
MIRT2211382	hsa-miR-1973	CLIP-seq
MIRT2211383	hsa-miR-2355-5p	CLIP-seq
MIRT2211384	hsa-miR-2861	CLIP-seq
MIRT2211385	hsa-miR-3064-5p	CLIP-seq
MIRT1975977	hsa-miR-3117-3p	CLIP-seq
MIRT1975979	hsa-miR-3132	CLIP-seq
MIRT2211386	hsa-miR-3142	CLIP-seq
MIRT2211387	hsa-miR-3150b-3p	CLIP-seq
MIRT2211388	hsa-miR-3156-3p	CLIP-seq
MIRT1975980	hsa-miR-3169	CLIP-seq
MIRT1975981	hsa-miR-3187-5p	CLIP-seq
MIRT2211389	hsa-miR-3616-3p	CLIP-seq
MIRT932180	hsa-miR-3652	CLIP-seq
MIRT1975984	hsa-miR-3664-3p	CLIP-seq
MIRT932181	hsa-miR-3692	CLIP-seq
MIRT2211390	hsa-miR-3907	CLIP-seq
MIRT932182	hsa-miR-3940-5p	CLIP-seq
MIRT2211391	hsa-miR-3943	CLIP-seq
MIRT2211392	hsa-miR-4283	CLIP-seq
MIRT1975989	hsa-miR-4292	CLIP-seq
MIRT932183	hsa-miR-4297	CLIP-seq
MIRT2211393	hsa-miR-4308	CLIP-seq
MIRT932184	hsa-miR-4430	CLIP-seq
MIRT2211394	hsa-miR-4446-3p	CLIP-seq
MIRT2211395	hsa-miR-4487	CLIP-seq
MIRT2211396	hsa-miR-4488	CLIP-seq
MIRT2211397	hsa-miR-4492	CLIP-seq
MIRT2211398	hsa-miR-4498	CLIP-seq
MIRT2211399	hsa-miR-4505	CLIP-seq
MIRT932185	hsa-miR-4507	CLIP-seq
MIRT2211400	hsa-miR-4519	CLIP-seq
MIRT1975995	hsa-miR-4530	CLIP-seq
MIRT932186	hsa-miR-4649-3p	CLIP-seq
MIRT2211401	hsa-miR-4660	CLIP-seq
MIRT2211402	hsa-miR-4687-3p	CLIP-seq
MIRT2211403	hsa-miR-4697-5p	CLIP-seq
MIRT2211404	hsa-miR-4721	CLIP-seq
MIRT2211405	hsa-miR-4731-5p	CLIP-seq
MIRT1976002	hsa-miR-4759	CLIP-seq
MIRT2211406	hsa-miR-4768-3p	CLIP-seq
MIRT2211407	hsa-miR-4779	CLIP-seq
MIRT2211408	hsa-miR-4784	CLIP-seq
MIRT1976003	hsa-miR-486-3p	CLIP-seq
MIRT1976004	hsa-miR-490-3p	CLIP-seq
MIRT2211409	hsa-miR-5047	CLIP-seq
MIRT2211410	hsa-miR-548q	CLIP-seq
MIRT1976005	hsa-miR-612	CLIP-seq
MIRT1976006	hsa-miR-615-5p	CLIP-seq
MIRT932189	hsa-miR-622	CLIP-seq
MIRT2211411	hsa-miR-634	CLIP-seq
MIRT2211412	hsa-miR-637	CLIP-seq
MIRT2211413	hsa-miR-762	CLIP-seq
MIRT2211414	hsa-miR-765	CLIP-seq
MIRT1976009	hsa-miR-873	CLIP-seq
MIRT1976010	hsa-miR-922	CLIP-seq
MIRT2211369	hsa-miR-1224-3p	CLIP-seq
MIRT2211370	hsa-miR-1226	CLIP-seq
MIRT2211374	hsa-miR-1260	CLIP-seq
MIRT2211375	hsa-miR-1260b	CLIP-seq
MIRT2211376	hsa-miR-1280	CLIP-seq
MIRT1975971	hsa-miR-1285	CLIP-seq
MIRT932178	hsa-miR-1827	CLIP-seq
MIRT2211380	hsa-miR-188-3p	CLIP-seq
MIRT2211388	hsa-miR-3156-3p	CLIP-seq
MIRT1975981	hsa-miR-3187-5p	CLIP-seq
MIRT932181	hsa-miR-3692	CLIP-seq
MIRT932183	hsa-miR-4297	CLIP-seq
MIRT1975995	hsa-miR-4530	CLIP-seq
MIRT932186	hsa-miR-4649-3p	CLIP-seq
MIRT1976004	hsa-miR-490-3p	CLIP-seq
MIRT1976005	hsa-miR-612	CLIP-seq
MIRT932189	hsa-miR-622	CLIP-seq
MIRT2211411	hsa-miR-634	CLIP-seq
MIRT1976010	hsa-miR-922	CLIP-seq
MIRT2448153	hsa-miR-1200	CLIP-seq
MIRT2448154	hsa-miR-1324	CLIP-seq
MIRT2448155	hsa-miR-3181	CLIP-seq
MIRT1975983	hsa-miR-361-3p	CLIP-seq
MIRT2448156	hsa-miR-4324	CLIP-seq
MIRT2448157	hsa-miR-4462	CLIP-seq
MIRT1975995	hsa-miR-4530	CLIP-seq
MIRT2448158	hsa-miR-544b	CLIP-seq
MIRT2448159	hsa-miR-563	CLIP-seq
MIRT2448153	hsa-miR-1200	CLIP-seq
MIRT2448154	hsa-miR-1324	CLIP-seq
MIRT1975983	hsa-miR-361-3p	CLIP-seq
MIRT2448156	hsa-miR-4324	CLIP-seq
MIRT2448157	hsa-miR-4462	CLIP-seq
MIRT1975995	hsa-miR-4530	CLIP-seq
MIRT2448158	hsa-miR-544b	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IBA
GO:0006897	Process	Endocytosis	IMP	20937701
GO:0008289	Function	Lipid binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030136	Component	Clathrin-coated vesicle	IBA
GO:0030136	Component	Clathrin-coated vesicle	IDA	20937701
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	ISS
GO:0032456	Process	Endocytic recycling	IBA
GO:0032456	Process	Endocytic recycling	ISS
GO:0032483	Process	Regulation of Rab protein signal transduction	IDA	20937701
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IEA
GO:1901981	Function	Phosphatidylinositol phosphate binding	IBA
GO:1901981	Function	Phosphatidylinositol phosphate binding	ISS

MIM	HGNC	e!Ensembl
613633	29324	ENSG00000119522

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
SLTVSQVGQNFTFVLTDIDSKQRFGFCRLSSGAKSCFCILSYLPWFEVFYKLLNILADYT
TKRQENQWNELLETLHKLPIPDPGVSVHLSVHSYFTVPDTRELPSIPENRNLTEYFVAVD
VNNMLHLYASMLYERRILIICSKLSTLTACIHGSAAMLYPMYWQHVYIPVLPPHLLDYCC
APMPYLIGIHLSLMEKVRNMALDDVVILNVDTNTLETPFDDLQSLPNDVISSLKNRLKKV
STTTGDGVARAFLKAQAAFFGSYRNALKIEPEEPITFCEEAFVSHYRSGAMRQFLQNATQ
LQLFKQFIDGRLDLLNSGEGFSDVFEEEINMGEYAGSDKLYHQWLSTVRKGSGAILNTVK
TKANPAMKTVYKFAKDHAKMGIKEVKNRLKQKDIAENGCAPTPEEQLPKTAPSPLVEAKD
PKLREDRRPITVHFGQVRPPRPHVVKRPKSNIAVEGRRTSVPSPEQPQPYRTLRESDSAE
GDEAESPEQQVRKSTGPVPAPPDRAASIDLLEDVFSNLDMEAALQPLGQAKSLEDLRAPK
DLREQPGTFDYQRLDLGGSERSRGVTVALKLTHPYNKLWSLGQDDMAIPSKPPAASPEKP
SALLGNSLALPRRPQNRDSILNPSDKEEVPTPTLGSITIPRPQGRKTPELGIVPPPPIPR
PAKLQAAGAALGDVSERLQTDRDRRAALSPGLLPGVVPQGPTELLQPLSPGPGAAGTSSD
ALLALLDPLSTAWSGSTLPSRPATPNVATPFTPQFSFPPAGTPTPFPQPPLNPFVPSMPA
APPTLPLVSTPAGPFGAPPASLGPAFASGLLLSSAGFCAPHRSQPNLSALSMPNLFGQMP
MGTHTSPLQPLGPPAVAPSRIRTLPLARSSARAAETKQGLALRPGDPPLLPPRPPQGLEP
TLQPSAPQQARDPFEDLLQKTKQDVSPSPALAPAPDSVEQLRKQWETFE

Sequence length

1009

Interactions

View interactions

	Reactome
			RAB GEFs exchange GTP for GDP on RABs

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	22902918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	22902918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22902918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	22547425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	25586784, 31184707		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	32425888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29700475, 30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30524285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	32425888	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia, Degenerative	Myopia	GWASCAT_DG	23049088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	30844144	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30232779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	21151128, 22885925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	21151128, 22885925, 30566500		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	22180642, 22547425, 22902918, 23208300, 24086769, 24706793, 25303487, 25626177, 25835506, 25978310, 26498719, 26757598, 26908109, 27297658, 27488699 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22180642, 22547425, 24086769, 24706793, 25303487, 25904635, 25978310, 26908109, 27297658, 30844144, 31941453, 32425888, 32574161, 37223019	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	30891314		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30524285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	25586784		★★★★★ ★☆☆☆☆ Found in Text Mining only

DENND1A (DENN domain containing 1A)