ADD3 adducin 3 (gamma) [Homo sapiens] - Gene

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Summary

Official Symbol: ADD3provided by HGNC
Official Full Name: adducin 3 (gamma)provided by HGNC
Primary source: HGNC:245
Locus tag: RP11-252O7.3
See related: Ensembl:ENSG00000148700; HPRD:03339; MIM:601568; Vega:OTTHUMG00000019032
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADDL
Summary: Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 10q25.2

Sequence :: Chromosome: 10; NC_000010.10 (111765726..111895323)

See ADD3 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

gamma-adducin may influence blood pressure homeostasis by modulating renal NaCl transport.
Title: γ-Adducin stimulates the thiazide-sensitive NaCl cotransporter.
These findings suggest novel roles for adducins in stabilization of epithelial junctions and regulation of junctional remodeling.
Title: Adducins regulate remodeling of apical junctions in human epithelial cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
In ADD1 GlyGly homozygotes, the properties of the brachial artery are related to the ADD3 (A386G) polymorphism, but the underlying mechanism needs further clarification.
Title: Arterial properties in relation to genetic variations in the adducin subunits in a white population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Left ventricular diastolic relaxation is modulated by genetic variation in ADD3.
Title: Effects of genetic variation in adducin on left ventricular diastolic function as assessed by tissue Doppler imaging in a Flemish population.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Effects of genetic variation in adducin on left ventricular diastolic function as assessed by tissue Doppler imaging in a Flemish population.
The interaction of ADD1 and ADD3 gene variants in humans is statistically associated with variation in blood pressure, suggesting the presence of epistatic effects among these loci.
Title: Role of the adducin family genes in human essential hypertension.
The early expression of ADD3 suggests that it may have a role in erythroblasts but is replaced by ADD2 in later stages of erythropoiesis.
Title: Expression of adducin genes during erythropoiesis: a novel erythroid promoter for ADD2.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q9UEY8	P17252	PRKCA		HPRD	PubMed
BioGRID:106633	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protein kinase C binding	IEA Inferred from Electronic Annotation more info
structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
response to drug	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell cortex	IEA Inferred from Electronic Annotation more info
cell-cell junction	IEA Inferred from Electronic Annotation more info
condensed nuclear chromosome	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
soluble fraction	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: gamma-adducin

Names: gamma-adducin; adducin-like protein 70

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001121.2 → NP_001112.2 gamma-adducin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The resulting protein (isoform b) is shorter compared to isoform a. Variants 2 and 3 encode the same protein.

Source sequence(s)

BC021694, BC057285, BX647403, CF457028

Consensus CDS

CCDS7562.1

UniProtKB/Swiss-Prot

Q9UEY8

Related

ENSP00000277900, OTTHUMP00000020463, ENST00000277900, OTTHUMT00000050290

Conserved Domains (1) summary

cl00214
Location:134 – 343
Blast Score: 409

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_016824.3 → NP_058432.1 gamma-adducin isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

BC021694, BC057285, BC062559, BX647403

Consensus CDS

CCDS7561.1

UniProtKB/TrEMBL

Q5VU08

UniProtKB/Swiss-Prot

Q9UEY8

Related

ENSP00000348381, OTTHUMP00000020462, ENST00000356080, OTTHUMT00000050289

Conserved Domains (1) summary

cl00214
Location:134 – 343
Blast Score: 409

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...
NM_019903.3 → NP_063968.1 gamma-adducin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate transcriptional start site and contains an alternate exon in the 5' UTR, compared to variant 1. It also lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 2 and 3 encode the same protein.

Source sequence(s)

AL600737, BC021694, BC057285, CF457028, D67031

Consensus CDS

CCDS7562.1

UniProtKB/Swiss-Prot

Q9UEY8

Related

ENSP00000353286, OTTHUMP00000020464, ENST00000360162, OTTHUMT00000050291

Conserved Domains (1) summary

cl00214
Location:134 – 343
Blast Score: 409

Aldolase_II; Class II Aldolase and Adducin head (N-terminal) domain. Aldolases are ubiquitous enzymes catalyzing central steps of carbohydrate metabolism. Based on enzymatic mechanisms, this superfamily has been divided into two distinct classes (Class I and II). ...

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

111765726..111895323

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

105396619..105526176

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL162613.22 (15297..79948)	None
genomic	AL590628.6	CAH71739.1
		CAH71740.1
genomic	CH471066.2	EAW49571.1
		EAW49572.1
		EAW49573.1
		EAW49574.1
genomic	Y14372.1	CAB51805.1
		CAB51806.1
mRNA	AB209810.1	BAD93047.1
mRNA	AK130789.1	None
mRNA	AK223270.1	BAD96990.1
mRNA	AK291488.1	BAF84177.1
mRNA	AL600737.1	None
mRNA	BC021694.1	None
mRNA	BC043143.1	None
mRNA	BC057285.1	None
mRNA	BC062559.1	AAH62559.1
mRNA	BI544596.1	None
mRNA	BX647403.1	CAI46048.1
mRNA	BX647442.1	None
mRNA	BX648016.1	None
mRNA	CF457028.1	None
mRNA	D67031.1	BAA23783.1
mRNA	EF553523.1	None
mRNA	U37122.1	AAB17126.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q53FL4	GenPept	UniProtKB/TrEMBL:Q53FL4
Q59EK1	GenPept	UniProtKB/TrEMBL:Q59EK1
Q5VU08	GenPept	UniProtKB/TrEMBL:Q5VU08
Q9UEY8.1	GenPept	UniProtKB/Swiss-Prot:Q9UEY8