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MAL mal, T cell differentiation protein [ Homo sapiens (human) ]

Gene ID: 4118, updated on 2-Nov-2024

Summary

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Official Symbol
MALprovided by HGNC
Official Full Name
mal, T cell differentiation proteinprovided by HGNC
Primary source
HGNC:HGNC:6817
See related
Ensembl:ENSG00000172005 MIM:188860; AllianceGenome:HGNC:6817
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
Also known as
HLD28; MVP17; VIP17
Summary
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The 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. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
Annotation information
Note: MAL (Gene ID: 4118), TIRAP (Gene ID: 114609), and MKL1 (Gene ID: 57591) share the MAL symbol/alias in common. MAL is a widely used alternative name for TIR domain containing adaptor protein (TIRAP) and megakaryoblastic leukemia (translocation) 1 (MKL1). [23 May 2018]
Expression
Biased expression in esophagus (RPKM 937.0) and kidney (RPKM 115.6) See more
Orthologs
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Genomic context

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See MAL in Genome Data Viewer
Location:
2q11.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (95025708..95053992)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (95532209..95560493)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (95691453..95719737)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95660342-95660890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95660891-95661438 Neighboring gene RNA, 7SL, cytoplasmic 575, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16180 Neighboring gene MAL antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95687830-95688330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95691837-95692560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95697485-95698400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95709333-95709988 Neighboring gene uncharacterized LOC124906047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:95713447-95713986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16181 Neighboring gene uncharacterized LOC124907857 Neighboring gene uncharacterized LOC105373488 Neighboring gene NANOG hESC enhancer GRCh37_chr2:95753198-95753763 Neighboring gene mitochondrial ribosomal protein S5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11739

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 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. MAL, a proteolipid in glycosphingolipid enriched domains: functional implications in myelin and beyond. Frank M. Prog Neurobiol, 2000 Apr. PMID 10739088
  2. [Expression pattern of MAL in normal epithelial cells, benign tumor, and squamous cell carcinoma of larynx]. Jiang Y, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2009 May. PMID 19670627
  3. Elevated MAL expression is accompanied by promoter hypomethylation and platinum resistance in epithelial ovarian cancer. Lee PS, et al. Int J Cancer, 2010 Mar 15. PMID 19642140
  4. Expression of myelin and lymphocyte protein (MAL) in oral carcinogenesis. Pal SK, et al. Med Mol Morphol, 2012 Dec. PMID 23224601
  5. T-lymphocyte maturation-associated protein gene as a candidate metastasis suppressor for head and neck squamous cell carcinomas. Beder LB, et al. Cancer Sci, 2009 May. PMID 19445022, Free PMC Article

See all (67) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MAL, a potential immunotherapy target, is associated with poor prognosis in cancer patients.
    Title: MAL, a potential immunotherapy target, is associated with poor prognosis in cancer patients.
  2. MAL expression downregulation through suppressive H3K27me3 marks at the promoter in HPV16-related cervical cancers is prognostically relevant and manifested by the interplay of novel MAL antisense long noncoding RNA AC103563.8, E7 oncoprotein and EZH2.
    Title: MAL expression downregulation through suppressive H3K27me3 marks at the promoter in HPV16-related cervical cancers is prognostically relevant and manifested by the interplay of novel MAL antisense long noncoding RNA AC103563.8, E7 oncoprotein and EZH2.
  3. MAL protein suppresses the metastasis and invasion of GC cells by interfering with the phosphorylation of STAT3.
    Title: MAL protein suppresses the metastasis and invasion of GC cells by interfering with the phosphorylation of STAT3.
  4. Differentiation and activation of human CD4 T cells is associated with a gradual loss of myelin and lymphocyte protein.
    Title: Differentiation and activation of human CD4 T cells is associated with a gradual loss of myelin and lymphocyte protein.
  5. Clostridium perfringens epsilon toxin binds to erythrocyte MAL receptors and triggers phosphatidylserine exposure.
    Title: Clostridium perfringens epsilon toxin binds to erythrocyte MAL receptors and triggers phosphatidylserine exposure.
  6. Experiments on lymphocytic cell lines revealed that MAL protein-expressing T cells, but not B cells, are sensitive to Epsilon toxin (Etx) from Clostridium perfringens and reveal that the toxin may be used as a molecular tool to distinguish subpopulations of lymphocytes.
    Title: The Cytotoxicity of Epsilon Toxin from Clostridium perfringens on Lymphocytes Is Mediated by MAL Protein Expression.
  7. In high-grade serous ovarian carcinoma patients, MAL was overexpressed in platinum-resistant compared to platinum-sensitive patients and resulted as an independent prognostic marker of survival.
    Title: MAL gene overexpression as a marker of high-grade serous ovarian carcinoma stem-like cells that predicts chemoresistance and poor prognosis.
  8. MAL and TMEM220 were specifically methylated and were down-regulated in human gastric cancer.
    Title: MAL and TMEM220 are novel DNA methylation markers in human gastric cancer.
  9. This study revealed that Merkel cell polyomavirus -negative Merkel cell carcinomas significantly expressed higher CADM1 and lower MAL than Merkel cell polyomavirus -positive Merkel cell carcinomas
    Title: Lower expression of CADM1 and higher expression of MAL in Merkel cell carcinomas are associated with Merkel cell polyomavirus infection and better prognosis.
  10. CADM1/MAL methylation increases with severity of cervical intraepithelial neoplasia
    Title: CADM1 and MAL methylation status in cervical scrapes is representative of the most severe underlying lesion in women with multiple cervical biopsies.
Submit: New GeneRIF Correction See all GeneRIFs (40)

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 Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef interacts with MAL-dependent pathway to enhance exosome release PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding TAS
Traceable Author Statement
more info
 PubMed 
enables peptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of myelin sheath IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of myelin sheath IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in apical protein localization TAS
Traceable Author Statement
more info
 PubMed 
involved_in apoptotic process NAS
Non-traceable Author Statement
more info
  
involved_in cell differentiation TAS
Traceable Author Statement
more info
 PubMed 
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in central nervous system myelination IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane raft polarization TAS
Traceable Author Statement
more info
 PubMed 
involved_in myelination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in myelination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in myelination TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
Inferred from Electronic Annotation
more info
  
involved_in protein insertion into plasma membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to paranode region of axon IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schmidt-Lanterman incisure IEA
Inferred from Electronic Annotation
more info
  
located_in apical plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in hinge region between urothelial plaques of apical plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane raft IEA
Inferred from Electronic Annotation
more info
  

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)

  1. NM_002371.4 → NP_002362.1  myelin and lymphocyte protein isoform a

    See identical proteins and their annotated locations for NP_002362.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) includes both alternatively spliced exons 2 and 3, resulting in the longest isoform (a).
    Source sequence(s)
    BC000458, DT215613, X76678
    Consensus CDS
    CCDS2006.1
    UniProtKB/Swiss-Prot
    P21145, Q6FH77
    Related
    ENSP00000310880.4, ENST00000309988.9
    Conserved Domains (1) summary
    pfam01284
    Location:19 → 145
    MARVEL; Membrane-associating domain

  2. NM_022438.3 → NP_071883.1  myelin and lymphocyte protein isoform b

    See identical proteins and their annotated locations for NP_071883.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) includes alternatively spliced exon 2 but is missing exon 3, resulting in isoform b which is shorter than the predominant isoform (a).
    Source sequence(s)
    BC000458, DT215613, X76679
    Consensus CDS
    CCDS2007.1
    UniProtKB/Swiss-Prot
    P21145
    Related
    ENSP00000306568.4, ENST00000353004.7

  3. NM_022439.3 → NP_071884.1  myelin and lymphocyte protein isoform c

    See identical proteins and their annotated locations for NP_071884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) is missing alternatively spliced exon 2 but includes exon 3, resulting in isoform c which is shorter than the predominant isoform (a).
    Source sequence(s)
    BC000458, DT215613, X76680
    Consensus CDS
    CCDS2008.1
    UniProtKB/Swiss-Prot
    P21145
    Related
    ENSP00000304924.3, ENST00000354078.7
    Conserved Domains (1) summary
    cl04571
    Location:31 → 89
    MARVEL; Membrane-associating domain

  4. NM_022440.3 → NP_071885.1  myelin and lymphocyte protein isoform d

    See identical proteins and their annotated locations for NP_071885.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) is missing alternatively spliced exons 2 and 3, resulting in the shortest isoform (d).
    Source sequence(s)
    BC000458, DT215613, X76681
    Consensus CDS
    CCDS2009.1
    UniProtKB/Swiss-Prot
    P21145
    Related
    ENSP00000322860.3, ENST00000349807.3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    95025708..95053992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    95532209..95560493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P21145.1 GenPept UniProtKB/Swiss-Prot:P21145

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