MXRA5 matrix remodeling associated 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MXRA5provided by HGNC
Official Full Name: matrix remodeling associated 5provided by HGNC
Primary source: HGNC:HGNC:7539
See related: Ensembl:ENSG00000101825 MIM:300938; AllianceGenome:HGNC:7539
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in skin (RPKM 16.1), urinary bladder (RPKM 11.0) and 22 other tissues See more
Orthologs: all
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Genomic context

Location:: Xp22.33

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (3308565..3346652, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (2922161..2960959, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (3226606..3264693, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Public RNA-seq data-based identification and functional analyses reveal that MXRA5 retains proliferative and migratory abilities of dental pulp stem cells.
Title: Public RNA-seq data-based identification and functional analyses reveal that MXRA5 retains proliferative and migratory abilities of dental pulp stem cells.
MXRA5 Is a Novel Immune-Related Biomarker That Predicts Poor Prognosis in Glioma.
Title: MXRA5 Is a Novel Immune-Related Biomarker That Predicts Poor Prognosis in Glioma.
Identification and functional activity of matrix-remodeling associated 5 (MXRA5) in benign hyperplastic prostate.
Title: Identification and functional activity of matrix-remodeling associated 5 (MXRA5) in benign hyperplastic prostate.
MXRA5 is downregulated in preeclamptic cytotrophoblasts and can regulate trophoblast cell invasion via the MAPK pathway.
Title: MXRA5 is decreased in preeclampsia and affects trophoblast cell invasion through the MAPK pathway.
In clear cell renal cancer, von Hippel-Lindau (VHL) regulated MXRA5 expression.
Title: MXRA5 is a TGF-β1-regulated human protein with anti-inflammatory and anti-fibrotic properties.
These results indicated the potential value of MXRA5 as a novel therapeutic target for the treatment of non-small cell lung cancer.
Title: Matrix-remodeling associated 5 as a novel tissue biomarker predicts poor prognosis in non-small cell lung cancers.
screened one most frequently mutated novel gene, matrix-remodeling associated 5 (MXRA5), in an additional larger Chinese sample set of 52 patients with NSCLC and confirmed its high somatic mutation frequency
Title: Exome sequencing identifies MXRA5 as a novel cancer gene frequently mutated in non-small cell lung carcinoma from Chinese patients.

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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

EBI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

RH98596 (e-PCR)
- UniSTS:85117

MXRA5 (e-PCR)
- UniSTS:506494

DXS6779 (e-PCR)
- UniSTS:149910

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	HDA more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in response to transforming growth factor beta	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to transforming growth factor beta	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: matrix-remodeling-associated protein 5

Names: adhesion protein with leucine-rich repeats and Immunoglobulin domains related to perlecan; adlican; matrix-remodelling associated 5

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.

Genomic

NG_021336.1 RefSeqGene

Range

4992..43079

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_015419.4 → NP_056234.2 matrix-remodeling-associated protein 5 precursor

See identical proteins and their annotated locations for NP_056234.2

Status: REVIEWED

Source sequence(s)

AC004616, AF245505, BC064986, CD626974

Consensus CDS

CCDS14124.1

UniProtKB/Swiss-Prot

Q6P1M7, Q9NR99, Q9Y3Y8

Related

ENSP00000217939.5, ENST00000217939.7

Conserved Domains (10) summary

cd00096
Location:2751 → 2824

Ig; Immunoglobulin domain

smart00408
Location:1965 → 2032

IGc2; Immunoglobulin C-2 Type

smart00082
Location:217 → 263

LRRCT; Leucine rich repeat C-terminal domain

smart00409
Location:2549 → 2633

IG; Immunoglobulin

smart00410
Location:2356 → 2435

IG_like; Immunoglobulin like

pfam07679
Location:1958 → 2042

I-set; Immunoglobulin I-set domain

sd00033
Location:38 → 55

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:128 → 168

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:102 → 163

LRR_8; Leucine rich repeat

cl11960
Location:2361 → 2435

Ig; Immunoglobulin domain