MAL (gene)

Myelin and lymphocyte protein is a protein that in humans is encoded by the MAL gene.^[5]

MAL
Identifiers
Aliases	MAL, mal, T-cell differentiation protein, mal, T cell differentiation protein, MVP17, VIP17
External IDs	OMIM: 188860; MGI: 892970; HomoloGene: 7827; GeneCards: MAL; OMA:MAL - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q11.1 Start 95,025,677 bp[1] End 95,053,992 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 F1 Start 127,475,146 bp[2] End 127,498,615 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of pharynx buccal mucosa cell renal medulla body of tongue oral cavity inferior ganglion of vagus nerve olfactory bulb amniotic fluid inferior olivary nucleus C1 segment Top expressed in transitional epithelium of urinary bladder epithelium of stomach globus pallidus conjunctival fornix ventral tegmental area mucous cell of stomach deep cerebellar nuclei sciatic nerve lateral geniculate nucleus pyloric antrum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptidase activator activity involved in apoptotic process protein binding lipid binding structural constituent of myelin sheath Cellular component apical plasma membrane endoplasmic reticulum membrane integral component of membrane membrane raft plasma membrane raft hinge region between urothelial plaques of apical plasma membrane extrinsic component of membrane Biological process positive regulation of extrinsic apoptotic signaling pathway via death domain receptors central nervous system development cell differentiation membrane raft polarization apical protein localization apoptotic process myelination protein localization to paranode region of axon protein insertion into plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4118 17153 Ensembl ENSG00000172005 ENSMUSG00000027375 UniProt P21145 O09198 RefSeq (mRNA) NM_022440 NM_002371 NM_022438 NM_022439 NM_001171187 NM_010762 RefSeq (protein) NP_002362 NP_071883 NP_071884 NP_071885 NP_001164658 NP_034892 Location (UCSC) Chr 2: 95.03 – 95.05 Mb Chr 2: 127.48 – 127.5 Mb PubMed search [3] [4]
Wikidata
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Function

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. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3.^[5] The MAL protein is also thought to interact with the protein encoded by LSMEM1 based on two-hybrid screening.^[6]

See also

• Anton blood group antigen