Mal myelin and lymphocyte protein, T cell differentiation protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Malprovided by MGI
Official Full Name: myelin and lymphocyte protein, T cell differentiation proteinprovided by MGI
Primary source: MGI:MGI:892970
See related: Ensembl:ENSMUSG00000027375 AllianceGenome:MGI:892970
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mpv17; Vip17
Summary: This gene encodes a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The encoded protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Expression: Biased expression in bladder adult (RPKM 46.2), stomach adult (RPKM 45.2) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 F1; 2 62.06 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (127475146..127498615, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (127633226..127656695, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Absence of Mal/TIRAP Results in Abrogated Imidazoquinolinones-Dependent Activation of IRF7 and Suppressed IFNbeta and IFN-I Activated Gene Production.
Title: Absence of Mal/TIRAP Results in Abrogated Imidazoquinolinones-Dependent Activation of IRF7 and Suppressed IFNβ and IFN-I Activated Gene Production.
siRNA-mediated knockdown of MAL in cells resulted in a decrease in PLC-beta3 protein expression and an increase in PIP2
Title: Mal protein stabilizes luminal membrane PLC-β3 and negatively regulates ENaC in mouse cortical collecting duct cells.
Expression of the developmentally regulated proteolipid MAL is required for the cytotoxic effect of Clostridium perfringens Epsilon Toxin.
Title: Clostridium perfringens Epsilon Toxin Causes Selective Death of Mature Oligodendrocytes and Central Nervous System Demyelination.
MAL overexpression leads to reduced expression of Mpz and p75NTR, despite functional pathways and normal expression of genes important for Schwann cell differentiation.
Title: MAL overexpression leads to disturbed expression of genes that influence cytoskeletal organization and differentiation of Schwann cells.
VIP17/MAL overexpression results in abnormal cilium and cyst development, in vitro and in vivo, and in VIP17/MAL-overexpressing mice that develop cysts secondary to a ciliary defect.
Title: VIP17/MAL expression modulates epithelial cyst formation and ciliogenesis.
the exclusion of MAL from the expanding 2D crystals of uroplakins explains the selective association of MAL with the hinge areas in the uroplakin-delivering fusiform vesicles, as well as at the apical surface
Title: MAL facilitates the incorporation of exocytic uroplakin-delivering vesicles into the apical membrane of urothelial umbrella cells.
Phagosomal retention of Francisella tularensis results in TIRAP/Mal-independent TLR2 signaling.
Title: Phagosomal retention of Francisella tularensis results in TIRAP/Mal-independent TLR2 signaling.
Our results suggest a functional role for MAL in peripheral myelination by influencing the expression of membrane components that mediate axon-glia interaction during ensheathment and myelin wrapping.
Title: The myelin protein MAL affects peripheral nerve myelination: a new player influencing p75 neurotrophin receptor expression.
Our results demonstrate a critical role for MAL in the maintenance of central nervous system paranodes, likely by controlling the trafficking and/or sorting of NF155 and other membrane components in oligodendrocytes.
Title: The raft-associated protein MAL is required for maintenance of proper axon--glia interactions in the central nervous system.
The specific reduction and mistargeting of MAL protein as a reaction to sulfatide overload may contribute to the pathogenic mechanisms in metachromatic leukodystrophy.
Title: Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (3) 1 citation

General gene information

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Markers

Y07626 (e-PCR)
- UniSTS:159022

D2Mit278 (e-PCR), detects polymorphism
- UniSTS:129160

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables structural constituent of myelin sheath	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of myelin sheath	IEA Inferred from Electronic Annotation more info
enables structural constituent of myelin sheath	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of central nervous system myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in myelination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info
involved_in protein insertion into plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to paranode region of axon	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Schmidt-Lanterman incisure	IEA Inferred from Electronic Annotation more info
located_in Schmidt-Lanterman incisure	ISO Inferred from Sequence Orthology more info
is_active_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in hinge region between urothelial plaques of apical plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane raft	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: myelin and lymphocyte protein

Names: T-lymphocyte maturation-associated protein

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_001171187.1 → NP_001164658.1 myelin and lymphocyte protein isoform 2

See identical proteins and their annotated locations for NP_001164658.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AK019046, AK158653, BY626921

Consensus CDS

CCDS50705.1

UniProtKB/Swiss-Prot

O09198

Related

ENSMUSP00000028853.7, ENSMUST00000028853.7
NM_010762.5 → NP_034892.1 myelin and lymphocyte protein isoform 1

See identical proteins and their annotated locations for NP_034892.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK158653, BY626921

Consensus CDS

CCDS16707.1

UniProtKB/Swiss-Prot

O08819, O09109, O09198, Q545Q7, Q9D2R2

Related

ENSMUSP00000028854.9, ENSMUST00000028854.15

Conserved Domains (1) summary

pfam01284
Location:19 → 145

MARVEL; Membrane-associating domain