MATR3
Matrin-3
Also known as: KIAA0723, MATR3_HUMAN, MGC9105, MPD2, VCPDM
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P43243
- Gene
- MATR3
- Ensembl
- ENSG00000015479
- Chromosome
- 5
- Canonical length
- 847 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
847 residues, UniProt reviewed canonical sequence.
>P43243|MATR3
1 MSKSFQQSSL SRDSQGHGRD LSAAGIGLLA AATQSLSMPA SLGRMNQGTA RLASLMNLGM
61 SSSLNQQGAH SALSSASTSS HNLQSIFNIG SRGPLPLSSQ HRGDADQASN ILASFGLSAR
121 DLDELSRYPE DKITPENLPQ ILLQLKRRRT EEGPTLSYGR DGRSATREPP YRVPRDDWEE
181 KRHFRRDSFD DRGPSLNPVL DYDHGSRSQE SGYYDRMDYE DDRLRDGERC RDDSFFGETS
241 HNYHKFDSEY ERMGRGPGPL QERSLFEKKR GAPPSSNIED FHGLLPKGYP HLCSICDLPV
301 HSNKEWSQHI NGASHSRRCQ LLLEIYPEWN PDNDTGHTMG DPFMLQQSTN PAPGILGPPP
361 PSFHLGGPAV GPRGNLGAGN GNLQGPRHMQ KGRVETSRVV HIMDFQRGKN LRYQLLQLVE
421 PFGVISNHLI LNKINEAFIE MATTEDAQAA VDYYTTTPAL VFGKPVRVHL SQKYKRIKKP
481 EGKPDQKFDQ KQELGRVIHL SNLPHSGYSD SAVLKLAEPY GKIKNYILMR MKSQAFIEME
541 TREDAMAMVD HCLKKALWFQ GRCVKVDLSE KYKKLVLRIP NRGIDLLKKD KSRKRSYSPD
601 GKESPSDKKS KTDGSQKTES STEGKEQEEK SGEDGEKDTK DDQTEQEPNM LLESEDELLV
661 DEEEAAALLE SGSSVGDETD LANLGDVASD GKKEPSDKAV KKDGSASAAA KKKLKKVDKI
721 EELDQENEAA LENGIKNEEN TEPGAESSEN ADDPNKDTSE NADGQSDENK DDYTIPDEYR
781 IGPYQPNVPV GIDYVIPKTG FYCKLCSLFY TNEEVAKNTH CSSLPHYQKL KKFLNKLAEE
841 RRQKKETLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MATR3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 305 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 305 nTPM
- cerebellum: 252 nTPM
- retina: 207 nTPM
- thymus: 207 nTPM
- cerebral cortex: 203 nTPM
- ovary: 184 nTPM
Single-cell type
- megakaryocytes: 12 nCPM
- medullary thymic epithelial cells: 4.8 nCPM
- megakaryocyte progenitors: 3.7 nCPM
- fallopian secretory cells: 3.6 nCPM
- fallopian tube ciliated cells: 3.4 nCPM
- corticotrophs: 3.3 nCPM
Immune cell
- basophil: 188 nTPM
- total PBMC: 160 nTPM
- NK-cell: 152 nTPM
- T-reg: 137 nTPM
- MAIT T-cell: 135 nTPM
- naive CD4 T-cell: 125 nTPM
Brain region
- cerebellum: 276 nTPM
- cerebral cortex: 244 nTPM
- basal ganglia: 239 nTPM
- white matter: 237 nTPM
- hypothalamus: 223 nTPM
- spinal cord: 221 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MATR3.
Disease | AllUniProt
Conditions MATR3 is implicated in, by any mechanism.
- Amyotrophic lateral sclerosis 21 (ALS21) MIM:606070
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 705 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amyotrophic lateral sclerosis type 21
Disease | ImmuneIEDB
Conditions an epitope on MATR3 was assayed in.
- hepatitis C B cell
- autoimmune hepatitis B cell
- sclerosing cholangitis B cell
- Alagille syndrome B cell
- Wilson disease B cell
- alpha 1-antitrypsin deficiency B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.08
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.73
- DepMap mean gene effect
- -0.31
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- activation of innate immune response
- blastocyst formation
- heart valve development
- innate immune response
- post-transcriptional regulation of gene expression
- ventricular septum development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- RNA recognition motif domain
- Matrin/U1-C, C2H2-type zinc finger
- Matrin/U1-C-like, C2H2-type zinc finger
- Nucleotide-binding alpha-beta plait domain superfamily
- RNA-binding domain superfamily
- Matrin-3, RNA recognition motif 1
- Matrin-3, RNA recognition motif 2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MATR3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MATR3 as an antibody target. Whether an autoantibody or antibody against MATR3 could matter depends on whether native MATR3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MATR3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MATR3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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