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

Gene ID: 54587, updated on 22-Sep-2022

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
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Genomic context

See MXRA8 in Genome Data Viewer
Location:
1p36.33
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1352689..1363541, complement)
110 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 dishevelled segment polarity protein 1 Neighboring gene microRNA 6808 Neighboring gene Sharpr-MPRA regulatory region 3626 Neighboring gene aurora kinase A interacting protein 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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

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

NCBI Reference Sequences (RefSeq)

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_001282582.2NP_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
    Q96KC3, Q9BRK3
    Conserved Domains (1) summary
    pfam07686
    Location:172291
    V-set; Immunoglobulin V-set domain
  2. NM_001282583.2NP_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
    UniProtKB/Swiss-Prot
    Q9BRK3
    Related
    ENSP00000436135.1, ENST00000477278.3
    Conserved Domains (1) summary
    pfam07686
    Location:163282
    V-set; Immunoglobulin V-set domain
  3. NM_001282584.2NP_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:71190
    V-set; Immunoglobulin V-set domain
  4. NM_001282585.1NP_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
    UniProtKB/Swiss-Prot
    Q9BRK3
    Related
    ENSP00000399229.2, ENST00000445648.5
    Conserved Domains (1) summary
    pfam07686
    Location:172291
    V-set; Immunoglobulin V-set domain
  5. NM_032348.4NP_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
    Q96KC3, Q9BRK3
    Related
    ENSP00000307887.6, ENST00000309212.11
    Conserved Domains (1) summary
    pfam07686
    Location:172291
    V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017001517.2XP_016857006.1  matrix remodeling-associated protein 8 isoform X2

  2. XM_017001516.3XP_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)