MAL (gene)

Protein-coding gene in the species Homo sapiens

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
| View/Edit Human| View/Edit Mouse

|

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

## Function

[edit]

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

[edit]

* Anton blood group antigen

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000172005 - Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027375 - Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ a b "Entrez Gene: MAL mal, T-cell differentiation protein".
6. ^ "LSMEM1". BioGRID. Retrieved 30 April 2015.

## Further reading

[edit]

* 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 46329654.531-44&rft.date=2000-04&rft_id=https://api.semanticscholar.org/CorpusID:46329654#id-name=S2CID&rft_id=info:pmid/10739088&rft_id=info:doi/10.1016/S0301-0082(99)00039-8&rft.aulast=Frank&rft.aufirst=M&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 30129595.91-5&rft.date=1988&rft_id=https://api.semanticscholar.org/CorpusID:30129595#id-name=S2CID&rft_id=info:pmid/3257199&rft_id=info:doi/10.1007/BF00351081&rft.aulast=Alonso&rft.aufirst=MA&rft.au=Barton,+DE&rft.au=Francke,+U&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 3494249.1997-2001&rft.date=1987-04&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC304570#id-name=PMC&rft_id=info:pmid/3494249&rft_id=info:doi/10.1073/pnas.84.7.1997&rft_id=info:bibcode/1987PNAS...84.1997A&rft.aulast=Alonso&rft.aufirst=MA&rft.au=Weissman,+SM&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC304570&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 8088843.447-50&rft.date=1994-05&rft_id=info:doi/10.1006/geno.1994.1294&rft_id=info:pmid/8088843&rft.aulast=Rancaño&rft.aufirst=C&rft.au=Rubio,+T&rft.au=Alonso,+MA&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 8132541.8159-64&rft.date=1994-03&rft_id=info:doi/10.1016/S0021-9258(17)37174-0&rft_id=info:pmid/8132541&rft.aulast=Rancaño&rft.aufirst=C&rft.au=Rubio,+T&rft.au=Correas,+I&rft.au=Alonso,+MA&rft_id=https://doi.org/10.1016%2FS0021-9258%2817%2937174-0&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 9003426.247-52&rft.date=1997-01&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1218061#id-name=PMC&rft_id=info:pmid/9003426&rft_id=info:doi/10.1042/bj3210247&rft.aulast=Millán&rft.aufirst=J&rft.au=Puertollano,+R&rft.au=Fan,+L&rft.au=Rancaño,+C&rft.au=Alonso,+MA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1218061&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 9168919.707-12&rft.date=1997-04&rft_id=info:doi/10.1006/bbrc.1997.6530&rft_id=info:pmid/9168919&rft.aulast=Millán&rft.aufirst=J&rft.au=Puertollano,+R&rft.au=Fan,+L&rft.au=Alonso,+MA&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 9528996.2077-84&rft.date=1998-04&rft_id=info:doi/10.1210/endo.139.4.5875&rft_id=info:pmid/9528996&rft.aulast=Martín-Belmonte&rft.aufirst=F&rft.au=Kremer,+L&rft.au=Albar,+JP&rft.au=Marazuela,+M&rft.au=Alonso,+MA&rft_id=https://doi.org/10.1210%2Fendo.139.4.5875&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 10366425.260-8&rft.date=1999-06&rft_id=info:doi/10.1006/excr.1999.4472&rft_id=info:pmid/10366425&rft.aulast=Köhler&rft.aufirst=C&rft.au=Håkansson,+A&rft.au=Svanborg,+C&rft.au=Orrenius,+S&rft.au=Zhivotovsky,+B&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 10428054.587-97&rft.date=1999-08&rft_id=info:doi/10.1046/j.1471-4159.1999.0730587.x&rft_id=info:pmid/10428054&rft.aulast=Frank&rft.aufirst=M&rft.au=Schaeren-Wiemers,+N&rft.au=Schneider,+R&rft.au=Schwab,+ME&rft_id=https://doi.org/10.1046%2Fj.1471-4159.1999.0730587.x&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 10512878.3435-47&rft.date=1999-10&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC25613#id-name=PMC&rft_id=info:pmid/10512878&rft_id=info:doi/10.1091/mbc.10.10.3435&rft.aulast=Puertollano&rft.aufirst=R&rft.au=Alonso,+MA&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC25613&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 39619359.550-62&rft.date=2002-08&rft_id=https://api.semanticscholar.org/CorpusID:39619359#id-name=S2CID&rft_id=info:pmid/12153479&rft_id=info:doi/10.1046/j.1471-4159.2002.00987.x&rft.aulast=Erne&rft.aufirst=B&rft.au=Sansano,+S&rft.au=Frank,+M&rft.au=Schaeren-Wiemers,+N&rft_id=https://doi.org/10.1046%2Fj.1471-4159.2002.00987.x&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 12429796.1172-80&rft.date=2002-11&rft_id=info:doi/10.1097/01.MP.0000032534.81894.B3&rft_id=info:pmid/12429796&rft.aulast=Copie-Bergman&rft.aufirst=C&rft.au=Plonquet,+A&rft.au=Alonso,+MA&rft.au=Boulland,+ML&rft.au=Marquet,+J&rft.au=Divine,+M&rft.au=Möller,+P&rft.au=Leroy,+K&rft.au=Gaulard,+P&rft_id=https://doi.org/10.1097%2F01.MP.0000032534.81894.B3&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 15188492.1716-21&rft.date=2004-06&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572255#id-name=PMC&rft_id=info:pmid/15188492&rft_id=info:doi/10.3748/wjg.v10.i12.1716&rft.aulast=Kazemi-Noureini&rft.aufirst=S&rft.au=Colonna-Romano,+S&rft.au=Ziaee,+AA&rft.au=Malboobi,+MA&rft.au=Yazdanbod,+M&rft.au=Setayeshgar,+P&rft.au=Maresca,+B&rft_id=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572255&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 13354323.5343-51&rft.date=2004-10&rft_id=https://api.semanticscholar.org/CorpusID:13354323#id-name=S2CID&rft_id=info:pmid/15466889&rft_id=info:doi/10.1242/jcs.01420&rft.aulast=Llorente&rft.aufirst=A&rft.au=de+Marco,+MC&rft.au=Alonso,+MA&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 22747639.245-57&rft.date=2006&rft_id=https://api.semanticscholar.org/CorpusID:22747639#id-name=S2CID&rft_id=info:pmid/16785208&rft_id=info:doi/10.1080/09687860600601445&rft.aulast=Dukhovny&rft.aufirst=A&rft.au=Goldstein+Magal,+L&rft.au=Hirschberg,+K&rft_id=https://doi.org/10.1080%2F09687860600601445&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">
* 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 7756279.1670-7&rft.date=2007-05&rft_id=https://api.semanticscholar.org/CorpusID:7756279#id-name=S2CID&rft_id=info:pmid/17151798&rft_id=info:doi/10.1245/s10434-006-9064-2&rft.aulast=Mimori&rft.aufirst=K&rft.au=Nishida,+K&rft.au=Nakamura,+Y&rft.au=Ieta,+K&rft.au=Yoshikawa,+Y&rft.au=Sasaki,+A&rft.au=Ishii,+H&rft.au=Alonso,+MA&rft.au=Mori,+M&rfr_id=info:sid/en.wikipedia.org:MAL+(gene)" class="Z3988">

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