Format

Send to:

Choose Destination

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

Gene ID: 4118, updated on 15-Jun-2019

Summary

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
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
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

Genomic context

See MAL in Genome Data Viewer
Location:
2q11.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (95025655..95053992)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (95691400..95719737)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373487 Neighboring gene RNA, 7SL, cytoplasmic 575, pseudogene Neighboring gene uncharacterized LOC105373488 Neighboring gene mitochondrial ribosomal protein S5

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
myelin and lymphocyte protein
Names
T-lymphocyte maturation-associated protein

NCBI Reference Sequences (RefSeq)

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_002371.4NP_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
    UniProtKB/TrEMBL
    A0A024RE19
    Related
    ENSP00000310880.4, ENST00000309988.9
    Conserved Domains (1) summary
    pfam01284
    Location:19145
    MARVEL; Membrane-associating domain
  2. NM_022438.2NP_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_022439.2NP_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:3189
    MARVEL; Membrane-associating domain
  4. NM_022440.2NP_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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    95025655..95053992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center