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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Loss of MXRA8 Delays Mammary Tumor Development and Impairs Metastasis.
Title: Loss of MXRA8 Delays Mammary Tumor Development and Impairs Metastasis.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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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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_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
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
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
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

1352689..1363541 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017001517.2 → XP_016857006.1 matrix remodeling-associated protein 8 isoform X2
XM_017001516.3 → XP_016857005.1 matrix remodeling-associated protein 8 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

783235..794097 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337161.1 → XP_054193136.1 matrix remodeling-associated protein 8 isoform X2
XM_054337160.1 → XP_054193135.1 matrix remodeling-associated protein 8 isoform X1