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FLASH GENE

Symbol

ADD1

contributors: mct - updated : 10-03-2017

HGNC name	adducin 1 (alpha)
HGNC id	243

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	86.35 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HD

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001119 15 splicing 3970 NP_001110 80 737 - 2014 24379415 utilizes an in-frame alternate splice site in the coding region NM_014189 15 splicing 4063 NP_054908 - 768 - 2014 24379415 introducing 31bp between codons 471-472 NM_014190 16 splicing 4004 NP_054909 - 631 - 2014 24379415 contains an early stop codon and shorter C-terminus NM_176801 16 splicing 4097 NP_789771 - 662 - 2014 24379415 contains an early stop codon and shorter C-terminus

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 Lymphoid/Immune thymus       highly Reproductive female system ovary     highly Visual eye       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal globular protease-resistent domain
	a potential protein kinase C phosphorylation site
	a calmodulin binding site
	a C terminus homolog to MARCKS proteins a protease-sensitive,
	hydrophilic C-terminal region

mono polymer

homomer , dimer

HOMOLOGY

Homologene

FAMILY

CATEGORY

structural protein , transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,nucleoplasm
text	associates with mitotic spindles and is crucial for proper spindle assembly and mitotic progression

basic FUNCTION	regulates tubular absorption of sodium by modulating the expression levels of the sodium-potassium-ATPase in renal tubular cells
	calmodulin binding protein
	actin-binding proteins located at the spectrin-actin junctions, also called the junctional complex, in the erythrocyte membrane
	can have a role in modulating the transcriptional regulating activity of RFX1
	play an essential role in the maintenance of erythrocyte shape and membrane stability
	forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion
	roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling
	role for ADD1 in memory
	is an actin-binding protein that has been shown to play important roles in the stabilization of the membrane cortical cytoskeleton and cell-cell adhesions
	protein organizing the cortical actin cytoskeleton and a target of RHOA and PRKC signaling
	novel function of ADD1 in maintaining spindle pole integrity through its interaction with TPX2

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

constituent of the erythrocyte membrane skeleton

INTERACTION

DNA

RNA

small molecule

protein	interaction with ACE not only on blood pressure regulation but also on the progression of renal dysfunction in patients with IgA nephropathy
	interaction with regulatory factor for X box (RFX1), a nuclear protein that down regulates the expression of several proteins in non neuronal cells
	binds directly to p55 and glycophorin C, a transmembrane protein, and this ternary complex is believed to attach the junctional complex to the plasma membrane
	binding to SLC2A1 (with dematin form a ternary complex that resists biochemical dissociation upon detergent extraction of the erythrocyte ghosts)
	novel function for ADD1 in mitotic spindle assembly through its interaction with MYO10
	regulation of desmosomal adhesion by RHOA- and PRKC-mediated ADD1 phosphorylation in keratinocytes
	ZNF322 positively regulates transcription of alpha-adducin (ADD1) and cyclin D1 (CCND1) to promote tumorgenicity of lung cancer

cell & other

REGULATION

Other

is phosphorylated at S726 during mitosis, and S726-phosphorylated ADD1 localizes to centrosomes, wherein it organizes into a rosette-like structure at the pericentriolar material

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         induced disruption of the actin cytoskeleton, reduced intercellular adhesion of human keratinocytes, and decreased the levels of the desmosomal adhesion molecule DSG3 by reducing its membrane incorporation

Susceptibility

salt sensitivity susceptibility to peripheral arterial disease (PAD) and coronary heart disease (CHD) susceptibility to hypertension predisposing to the development of end-stage renal disease to essential hypertension

Variant & Polymorphism SNP	G460W allele was significantly associated with PAD and CHD
	polymorphisms increasing the risk of hypertension predisposing to the development of end-stage renal disease

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Add1 null mice show abnormal inward curvature of the cervicothoracic spine with complete penetrance and develop severe megaesophagus