Add3 Gene Search Result

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6 records found for search term Add3

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
735411	ADD3	adducin 3	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 ... (more) -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]	10	109996373	110135565	Human	228	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
7252953	ADD3-AS1	ADD3 antisense RNA 1	INTERACTS WITH 4,4'-sulfonyldiphenol; okadaic acid; propofol	10	109945559	110008381	Human	3	symbol , COSMIC , name , Human Proteome Map	gene, ncrna, VALIDATED [RefSeq]
730884	ABO	ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase	This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-25 ... (more) 8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]	9	133250401	133275201	Human	100	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]
1347611	ACKR1	atypical chemokine receptor 1 (Duffy blood group)	The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group sys ... (more) tem. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	1	159204875	159206500	Human	95	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]
10249	BSG	basigin (Ok blood group)	The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcri ... (more) pt variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]	19	571283	583493	Human	275	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]
1345266	GDF5	growth differentiation factor 5	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is ... (more) proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]	20	35433347	35454749	Human	421	GenBank Protein	gene, protein-coding, REVIEWED [RefSeq]