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MATR3 matrin 3 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001194954 Homo sapiens matrin 3 (MATR3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001194955 Homo sapiens matrin 3 (MATR3), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_001194956 Homo sapiens matrin 3 (MATR3), transcript variant 5, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001282278 Homo sapiens matrin 3 (MATR3), transcript variant 6, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_018834 Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $899.00 20
NM_199189 Homo sapiens matrin 3 (MATR3), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol MATR3
Entrez Gene ID 9782
Full Name matrin 3
Synonyms ALS21, MPD2, VCPDM
General protein information
Preferred Names
matrin-3
Names
matrin-3
vocal cord and pharyngeal weakness with distal myopathy
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q31.2

Summary This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013].
Disorder

MIM: 164015

Myopathy, distal 2, 606070 (3)

mRNA Protein Product Sequence Price Select
NM_001194954, 303227923 NP_001181883, 303227924 matrin-3 isoform a ORF Sequence $750.00
NM_001194955, 303227925 NP_001181884, 303227926 matrin-3 isoform a ORF Sequence $750.00
NM_001194956, 303227927 NP_001181885, 303227928 matrin-3 isoform b ORF Sequence $550.00
NM_001282278, 533112483 NP_001269207, 533112484 matrin-3 isoform c ORF Sequence $550.00
NM_018834, 303227921 NP_061322, 21626466 matrin-3 isoform a ORF Sequence $750.00
NM_199189, 303227922 NP_954659, 62750354 matrin-3 isoform a ORF Sequence $750.00
Homo sapiens (human)MATR3NP_954659.1
Pan troglodytes (chimpanzee)MATR3NP_001192161.1
Macaca mulatta (Rhesus monkey)MATR3XP_001114262.1
Canis lupus familiaris (dog)MATR3NP_001192187.1
Bos taurus (cattle)MATR3NP_001095956.1
Mus musculus (house mouse)Matr3NP_034901.2
Rattus norvegicus (Norway rat)Matr3NP_062022.2
Gallus gallus (chicken)MATR3NP_989478.1
Xenopus (Silurana) tropicalis (western clawed frog)matr3NP_001006792.2
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005637nuclear inner membraneTAS
GO:0005730nucleolusIDA
GO:0016020membraneIDA
GO:0016363nuclear matrixIEA
Function
IDNameEvidence
GO:0000166nucleotide bindingIEA
GO:0005198structural molecule activityTAS
GO:0005515protein bindingIPI
GO:0008270zinc ion bindingIEA
GO:0044822poly(A) RNA bindingIDA
GeneCards MATR3
UniProt B4DF66, B3KM87, Q9H4N1, P43243
Vega OTTHUMG00000129229
MIM 164015
Ensembl ENSG00000015479
HGNC 6912
HPRD 05270

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

What is the normal function of the MATR3 gene?

The MATR3 gene provides instructions for making a protein called matrin 3, which is found in the nucleus of the cell as part of the nuclear matrix. The nuclear matrix is a network of proteins that provides structural support for the nucleus and aids in several important nuclear functions.

The function of the matrin 3 protein is unknown. This protein can attach to (bind) RNA, which is a chemical cousin of DNA. Some studies indicate that matrin 3 binds and stabilizes a type of RNA called messenger RNA (mRNA), which provides the genetic blueprint for proteins. Matrin 3 may also bind certain abnormal RNAs that could lead to nonfunctional or harmful proteins, thereby blocking the formation of such proteins. Other studies suggest that the matrin 3 protein may be involved in cell survival.

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