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FLASH GENE

Symbol

DENND1A

contributors: mct - updated : 16-06-2017

HGNC name	DENN/MADD domain containing 1A
HGNC id	29324

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020946 22 - 5041 NP_065997 110.5 1009 - 2006 17182770 22 exons, isoform 1 NM_024820 21 - 2166 NP_079096 63.3 559 - 2006 17182770 21 exons, differs in the 3'UTR and coding region compared to variant 1, resulting in a frameshift and encoding isoform 2, shorter than isoform 1

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon     Endocrine adrenal gland           thyroid         Nervous nerve cranial nerve       Reproductive female system ovary     predominantly Respiratory respiratory tract larynx     highly

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal DENN (differentially expressed in neoplastic versus normal cells) domain, a poorly characterized protein module found in multiple proteins of unrelated function
	multiple Src homology 3 (SH3) domain-binding motifs
	a C-terminal peptide motif domain harboring three distinct motifs for binding the alpha-ear of the clathrin adaptor protein 2 (AP-2)

conjugated

PhosphoP

HOMOLOGY

interspecies

ortholog to murine Dennd1a

Homologene

FAMILY

CATEGORY

regulatory , unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	localize to clathrin patches at the plasma membrane

basic FUNCTION	DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis
	functions on the endocytic limb of the synaptic vesicle cycle
	functions as a guanine nucleotide exchange factor (GEF) for RAB35 to regulate endosomal membrane trafficking
	activate RAB35 in an endocytic pathway trafficking Shiga toxin to the trans-Golgi network

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of the endocytic machinery functioning in synaptic vesicle endocytosis, providing the first evidence of a role for a DENN domain-containing protein in endocytosis

INTERACTION

DNA

RNA

small molecule

protein

whereas DENND1A and DENND1B activate RAB35 for endosomal trafficking, DENND1C uniquely activates RAB35 for its role in actin regulation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to Polycystic ovary syndrome (PCOS) to endometrioid adenocarcinoma

Variant & Polymorphism SNP	associated with Polycystic ovary syndrome (PCOS)
	SNPs rs2479106 in gene DENND1A are associated with endometrioid adenocarcinoma

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS