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MXRA8 matrix remodeling associated 8 [ Homo sapiens (human) ]

Gene ID: 54587, updated on 23-Mar-2024

Summary

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Official Symbol
MXRA8provided by HGNC
Official Full Name
matrix remodeling associated 8provided by HGNC
Primary source
HGNC:HGNC:7542
See related
Ensembl:ENSG00000162576 MIM:617293; AllianceGenome:HGNC:7542
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ASP3
Summary
Predicted to be involved in establishment of glial blood-brain barrier. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 26.7), fat (RPKM 25.8) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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See MXRA8 in Genome Data Viewer
Location:
1p36.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1352689..1363541, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (783235..794097, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1288069..1298921, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene taste 1 receptor member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 61 Neighboring gene dishevelled segment polarity protein 1 Neighboring gene microRNA 6808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1281421-1282299 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1282501-1283130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1283131-1283760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 62 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 63 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 64 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1288877-1289508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1289509-1290140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1290141-1290771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1291896-1292448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1293036-1293618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 65 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 66 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1307318-1308085 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 67 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1310373-1311278 Neighboring gene aurora kinase A interacting protein 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular Basis of Arthritogenic Alphavirus Receptor MXRA8 Binding to Chikungunya Virus Envelope Protein. Song H, et al. Cell, 2019 Jun 13. PMID 31080063
  2. Cryo-EM Structure of Chikungunya Virus in Complex with the Mxra8 Receptor. Basore K, et al. Cell, 2019 Jun 13. PMID 31080061, Free PMC Article
  3. Elevated Expression of miR-200c/141 in MDA-MB-231 Cells Suppresses MXRA8 Levels and Impairs Breast Cancer Growth and Metastasis In Vivo. Simpson KE, et al. Genes (Basel), 2022 Apr 14. PMID 35456497, Free PMC Article
  4. DICAM inhibits angiogenesis via suppression of AKT and p38 MAP kinase signalling. Han SW, et al. Cardiovasc Res, 2013 Apr 1. PMID 23386276
  5. Limitrin, a novel immunoglobulin superfamily protein localized to glia limitans formed by astrocyte endfeet. Yonezawa T, et al. Glia, 2003 Dec. PMID 14603461

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Single-cell RNA combined with bulk RNA analysis to explore oxidative stress and energy metabolism factors and found a new prostate cancer oncogene MXRA8.
    Title: Single-cell RNA combined with bulk RNA analysis to explore oxidative stress and energy metabolism factors and found a new prostate cancer oncogene MXRA8.
  2. Loss of MXRA8 Delays Mammary Tumor Development and Impairs Metastasis.
    Title: Loss of MXRA8 Delays Mammary Tumor Development and Impairs Metastasis.
  3. Elevated Expression of miR-200c/141 in MDA-MB-231 Cells Suppresses MXRA8 Levels and Impairs Breast Cancer Growth and Metastasis In Vivo.
    Title: Elevated Expression of miR-200c/141 in MDA-MB-231 Cells Suppresses MXRA8 Levels and Impairs Breast Cancer Growth and Metastasis In Vivo.
  4. the stalk region of MXRA8 is critical for CHIKV virus entry.
    Title: Molecular Basis of Arthritogenic Alphavirus Receptor MXRA8 Binding to Chikungunya Virus Envelope Protein.
  5. studies provide insight into how Mxra8 binds CHIKV and creates a path for developing alphavirus entry inhibitors.
    Title: Cryo-EM Structure of Chikungunya Virus in Complex with the Mxra8 Receptor.
  6. exogenous expression of DICAM in human umbilical vein endothelial cells suppressed angiogenesis in vitro Matrigel and in vivo plug assays, and conversely, DICAM knockdown enhanced angiogenesis
    Title: DICAM inhibits angiogenesis via suppression of AKT and p38 MAP kinase signalling.
  7. MXRA8 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
    Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
  8. new member of the transmembrane-type immunoglobulin superfamily and designated limitrin, localizing selectively to glia limitans in mouse brain
    Title: Limitrin, a novel immunoglobulin superfamily protein localized to glia limitans formed by astrocyte endfeet.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC3047, DKFZp586E2023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in establishment of glial blood-brain barrier ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
located_in bicellular tight junction IEA
Inferred from Electronic Annotation
more info
  
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in ciliary membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
matrix remodeling-associated protein 8
Names
limitrin
matrix-remodeling-associated protein 8
matrix-remodelling associated 8

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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)

  1. NM_001282582.2 → NP_001269511.1  matrix remodeling-associated protein 8 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001269511.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in both UTRs and uses an alternate splice site in the 3' terminal exon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS24.1
    UniProtKB/Swiss-Prot
    B3KTR6, B4DE34, Q5TA39, Q96KC3, Q9BRK3
    Conserved Domains (1) summary
    pfam07686
    Location:172 → 291
    V-set; Immunoglobulin V-set domain

  2. NM_001282583.2 → NP_001269512.1  matrix remodeling-associated protein 8 isoform 4

    See identical proteins and their annotated locations for NP_001269512.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in both UTRs and has multiple coding region differences compared to variant 1. The encoded isoform (4) is shorter and has distinct N- and C-termini compared to isoform 1.
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS59952.1
    Related
    ENSP00000436135.1, ENST00000477278.3
    Conserved Domains (1) summary
    pfam07686
    Location:163 → 282
    V-set; Immunoglobulin V-set domain

  3. NM_001282584.2 → NP_001269513.1  matrix remodeling-associated protein 8 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001269513.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in both UTRs and has multiple coding region differences compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS59950.1
    UniProtKB/Swiss-Prot
    Q9BRK3
    Related
    ENSP00000344998.4, ENST00000342753.8
    Conserved Domains (1) summary
    pfam07686
    Location:71 → 190
    V-set; Immunoglobulin V-set domain

  4. NM_001282585.1 → NP_001269514.1  matrix remodeling-associated protein 8 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK027269, AL139287, DC356331
    Consensus CDS
    CCDS59951.1
    Related
    ENSP00000399229.2, ENST00000445648.5
    Conserved Domains (1) summary
    pfam07686
    Location:172 → 291
    V-set; Immunoglobulin V-set domain

  5. NM_032348.4 → NP_115724.1  matrix remodeling-associated protein 8 isoform 2 precursor

    See identical proteins and their annotated locations for NP_115724.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in both UTRs and uses two alternate splice sites in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1. Variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AL139287
    Consensus CDS
    CCDS24.1
    UniProtKB/Swiss-Prot
    B3KTR6, B4DE34, Q5TA39, Q96KC3, Q9BRK3
    Related
    ENSP00000307887.6, ENST00000309212.11
    Conserved Domains (1) summary
    pfam07686
    Location:172 → 291
    V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    1352689..1363541 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001517.2 → XP_016857006.1  matrix remodeling-associated protein 8 isoform X2

  2. XM_017001516.3 → XP_016857005.1  matrix remodeling-associated protein 8 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    783235..794097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337161.1 → XP_054193136.1  matrix remodeling-associated protein 8 isoform X2

  2. XM_054337160.1 → XP_054193135.1  matrix remodeling-associated protein 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRK3.1 GenPept UniProtKB/Swiss-Prot:Q9BRK3

Gene LinkOut

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