DENND1A: Polycystic Ovarian Syndrome Database

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DENND1A

Gene Information

SNPs

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

DENND1A

Aliases

FAM31A, KIAA1608

Entrez Gene ID

57706

Gene Name

DENN domain containing 1A

Chromosomal Location

9q33.3

HGNC ID

HGNC:29324

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 RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]

e!Ensembl

Gene	ENSG00000119522
Transcript	ENST00000373624, ENST00000373620, ENST00000373618, ENST00000394215
Protein	ENSP00000362727, ENSP00000362722, ENSP00000362720, ENSP00000377763

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs10818854	ATTCCTGCTGGTCTTGGTTAGTACCA	C/T	TCAATAAAATGTTAGGACCCGGGCT	Intron variant	25586784, 22547425
rs2479106	TGCTGTGCAAAGTTAGAAGATGAAAC	A/C	AAACTGATTACATACACCTATACCC	Intron variant	23208300, 22009367
rs10986105	ATTCCTGCTGGTCTTGGTTAGTACCA	C/T	TCAATAAAATGTTAGGACCCGGGCT	Intron variant	22547425

Gene Ontology (GO)

Show/Hide all(12 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006897	Biological process	Endocytosis	IBA	21873635
GO:0006897	Biological process	Endocytosis	IMP	20937701
GO:0032456	Biological process	Endocytic recycling	IBA	21873635
GO:0032483	Biological process	Regulation of Rab protein signal transduction	IDA	20937701
GO:0005829	Cellular component	Cytosol	IBA	21873635
GO:0030136	Cellular component	Clathrin-coated vesicle	IBA	21873635
GO:0030136	Cellular component	Clathrin-coated vesicle	IDA	20937701
GO:0043231	Cellular component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0017112	Molecular function	Rab guanyl-nucleotide exchange factor activity	IBA	21873635
GO:0017112	Molecular function	Rab guanyl-nucleotide exchange factor activity	IDA	20937701
GO:0017137	Molecular function	Rab GTPase binding	IBA	21873635
GO:1901981	Molecular function	Phosphatidylinositol phosphate binding	IBA	21873635

Protein Information

Protein Name

DENN domain-containing protein 1A, DENN/MADD domain containing 1A, connecdenn 1

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 endocytosis of synaptic vesicles and mediates exit from early endosomes (PubMed:20154091, PubMed:20937701). Binds phosphatidylinositol-phosphates (PtdInsPs), with some preference for PtdIns(3)P (By similarity).

UniProt

Q8TEH3

PDB

6EKK

Pathways
	Reactome
		RAB GEFs exchange GTP for GDP on RABs

Interactions

STRING	MINT	IntAct
ENSP00000328118		Q86YR7

View interactions

Associated Diseases

Show/Hide all(2 )

Disease group	Disease Name	References
Endocrine System Diseases
Endocrine System Diseases	PCOS	30910557, 30611404, 30566500, 22547425
Eye Diseases
Eye Diseases	Myopia	23049088

References

Show/Hide all(7)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22547425		Hyperandrogenism and irregular menses	Pcos risk variants-rs10986105[C] and rs10818854[A]	Rotterdam criteria	Related	PCOS-376 Icelandic,565 from Boston, MA and 203 from Chicago, IL and 6,947, 483, and 189 controls from Iceland, Boston, and Chicago respectively	The same allele of rs10986105 that increased the risk of PCOS also increased the risk of hyperandrogenism in women without PCOS from Iceland and demonstrated a stronger risk for PCOS defined by the National Institutes of Health criteria than the Rotterdam criteria.
22504079	LHCGR		SNP rs2479106 in gene DENND1A		Direct	Denmark-268 patients with PCOS between 1997 and 2011 and 248 controls	The rs2479106 G (DENND1A gene) allele was associated with a decreased PCOS susceptibility.
22180642	THADA	Hyperandrogenism and irregular menses	Variation in the gene	NICHD criteria	Direct	European derived PCOS cohorts-(cohort A = 939 cases and 957 controls) and (cohort B = 535 cases and 845 controls)	At least two of the PCOS susceptibility loci identified in the Chinese PCOS GWAS (DENND1A and THADA) are also associated with PCOS in European derived populations, and are therefore likely to be important in the aetiology of PCOS regardless of ethnicity.
23208300				Rotterdam criteria	Related	1731 Hans Chinese PCOS patients, 4964 Hans Chinese controls	The PCOS susceptibility genes, THADA and DENND1A, carry risk alleles that are associated with endocrine and metabolic disturbances in PCOS patients of Han Chinese descent
22009367		PCOS	rs2479106		Related	545 Caucasian PCOS and 317 control women	The study found an association of the rs2479106 variant with PCOS susceptibility
24106282	LHCGR, THADA, FSHR, c9orf3, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1		rs10818854, rs2479106, rs10986105	Rotterdam criteria	Direct	703 Dutch PCOS patients and 2164 Dutch controls	This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations
25303487					Direct	45 European subjects with PCOS and 845 controls	Four of the PCOS susceptibility loci identified in the Chinese GWAS are associated with PCOS in Europeans