MAL (gene)

Myelin and lymphocyte protein is a protein that in humans is encoded by the MAL gene.

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) Band 2q11.1 Start 95,025,677 bp End 95,053,992 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 127,475,146 bp End 127,498,615 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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. The MAL protein is also thought to interact with the protein encoded by LSMEM1 based on two-hybrid screening.

See also

• Anton blood group antigen

Further reading

• Frank M (Apr 2000). "MAL, a proteolipid in glycosphingolipid enriched domains: functional implications in myelin and beyond". Progress in Neurobiology. 60 (6): 531–44. doi:10.1016/S0301-0082(99)00039-8. PMID 10739088. S2CID 46329654.
• Alonso MA, Barton DE, Francke U (1988). "Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13". Immunogenetics. 27 (2): 91–5. doi:10.1007/BF00351081. PMID 3257199. S2CID 30129595.
• Alonso MA, Weissman SM (Apr 1987). "cDNA cloning and sequence of MAL, a hydrophobic protein associated with human T-cell differentiation". Proceedings of the National Academy of Sciences of the United States of America. 84 (7): 1997–2001. Bibcode:1987PNAS...84.1997A. doi:10.1073/pnas.84.7.1997. PMC 304570. PMID 3494249.
• Rancaño C, Rubio T, Alonso MA (May 1994). "Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene". Genomics. 21 (2): 447–50. doi:10.1006/geno.1994.1294. PMID 8088843.
• Rancaño C, Rubio T, Correas I, Alonso MA (Mar 1994). "Genomic structure and subcellular localization of MAL, a human T-cell-specific proteolipid protein". The Journal of Biological Chemistry. 269 (11): 8159–64. doi:10.1016/S0021-9258(17)37174-0. PMID 8132541.
• Millán J, Puertollano R, Fan L, Rancaño C, Alonso MA (Jan 1997). "The MAL proteolipid is a component of the detergent-insoluble membrane subdomains of human T-lymphocytes". The Biochemical Journal. 321 ( Pt 1) (1): 247–52. doi:10.1042/bj3210247. PMC 1218061. PMID 9003426.
• Millán J, Puertollano R, Fan L, Alonso MA (Apr 1997). "Caveolin and MAL, two protein components of internal detergent-insoluble membranes, are in distinct lipid microenvironments in MDCK cells". Biochemical and Biophysical Research Communications. 233 (3): 707–12. doi:10.1006/bbrc.1997.6530. PMID 9168919.
• Martín-Belmonte F, Kremer L, Albar JP, Marazuela M, Alonso MA (Apr 1998). "Expression of the MAL gene in the thyroid: the MAL proteolipid, a component of glycolipid-enriched membranes, is apically distributed in thyroid follicles". Endocrinology. 139 (4): 2077–84. doi:10.1210/endo.139.4.5875. PMID 9528996.
• Köhler C, Håkansson A, Svanborg C, Orrenius S, Zhivotovsky B (Jun 1999). "Protease activation in apoptosis induced by MAL". Experimental Cell Research. 249 (2): 260–8. doi:10.1006/excr.1999.4472. PMID 10366425.
• Frank M, Schaeren-Wiemers N, Schneider R, Schwab ME (Aug 1999). "Developmental expression pattern of the myelin proteolipid MAL indicates different functions of MAL for immature Schwann cells and in a late step of CNS myelinogenesis". Journal of Neurochemistry. 73 (2): 587–97. doi:10.1046/j.1471-4159.1999.0730587.x. PMID 10428054.
• Puertollano R, Alonso MA (Oct 1999). "MAL, an integral element of the apical sorting machinery, is an itinerant protein that cycles between the trans-Golgi network and the plasma membrane". Molecular Biology of the Cell. 10 (10): 3435–47. doi:10.1091/mbc.10.10.3435. PMC 25613. PMID 10512878.
• Erne B, Sansano S, Frank M, Schaeren-Wiemers N (Aug 2002). "Rafts in adult peripheral nerve myelin contain major structural myelin proteins and myelin and lymphocyte protein (MAL) and CD59 as specific markers". Journal of Neurochemistry. 82 (3): 550–62. doi:10.1046/j.1471-4159.2002.00987.x. PMID 12153479. S2CID 39619359.
• Copie-Bergman C, Plonquet A, Alonso MA, Boulland ML, Marquet J, Divine M, Möller P, Leroy K, Gaulard P (Nov 2002). "MAL expression in lymphoid cells: further evidence for MAL as a distinct molecular marker of primary mediastinal large B-cell lymphomas". Modern Pathology. 15 (11): 1172–80. doi:10.1097/01.MP.0000032534.81894.B3. PMID 12429796.
• Kazemi-Noureini S, Colonna-Romano S, Ziaee AA, Malboobi MA, Yazdanbod M, Setayeshgar P, Maresca B (Jun 2004). "Differential gene expression between squamous cell carcinoma of esophageus and its normal epithelium; altered pattern of mal, akr1c2, and rab11a expression". World Journal of Gastroenterology. 10 (12): 1716–21. doi:10.3748/wjg.v10.i12.1716. PMC 4572255. PMID 15188492.
• Llorente A, de Marco MC, Alonso MA (Oct 2004). "Caveolin-1 and MAL are located on prostasomes secreted by the prostate cancer PC-3 cell line". Journal of Cell Science. 117 (Pt 22): 5343–51. doi:10.1242/jcs.01420. PMID 15466889. S2CID 13354323.
• Dukhovny A, Goldstein Magal L, Hirschberg K (2006). "The MAL proteolipid restricts detergent-mediated membrane pore expansion and percolation". Molecular Membrane Biology. 23 (3): 245–57. doi:10.1080/09687860600601445. PMID 16785208. S2CID 22747639.
• Mimori K, Nishida K, Nakamura Y, Ieta K, Yoshikawa Y, Sasaki A, Ishii H, Alonso MA, Mori M (May 2007). "Loss of MAL expression in precancerous lesions of the esophagus". Annals of Surgical Oncology. 14 (5): 1670–7. doi:10.1245/s10434-006-9064-2. PMID 17151798. S2CID 7756279.