2024-04-26 07:12:35, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022439 985 bp mRNA linear PRI 26-MAY-2013 DEFINITION Homo sapiens mal, T-cell differentiation protein (MAL), transcript variant c, mRNA. ACCESSION NM_022439 VERSION NM_022439.2 GI:386781937 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 985) AUTHORS Snellenberg,S., De Strooper,L.M., Hesselink,A.T., Meijer,C.J., Snijders,P.J., Heideman,D.A. and Steenbergen,R.D. TITLE Development of a multiplex methylation-specific PCR as candidate triage test for women with an HPV-positive cervical scrape JOURNAL BMC Cancer 12, 551 (2012) PUBMED 23176198 REMARK GeneRIF: Data indicate that DNA methylation status of multiple genes CADM1, MAL and hsa-miR-124-2 was analyzed in human papillomavirus (hrHPV)-positive cervical scrape. Publication Status: Online-Only REFERENCE 2 (bases 1 to 985) AUTHORS Lin,Z., Lu,J., Zhou,W. and Shen,Y. TITLE Structural insights into TIR domain specificity of the bridging adaptor Mal in TLR4 signaling JOURNAL PLoS ONE 7 (4), E34202 (2012) PUBMED 22485159 REMARK GeneRIF: The Mal-Toll/interleukin-1 receptor (TIR) domains AB loop is capable of mediating direct binding to the TIR domains of TLR4 and MyD88 simultaneously. REFERENCE 3 (bases 1 to 985) AUTHORS Overmeer,R.M., Louwers,J.A., Meijer,C.J., van Kemenade,F.J., Hesselink,A.T., Daalmeijer,N.F., Wilting,S.M., Heideman,D.A., Verheijen,R.H., Zaal,A., van Baal,W.M., Berkhof,J., Snijders,P.J. and Steenbergen,R.D. TITLE Combined CADM1 and MAL promoter methylation analysis to detect (pre-)malignant cervical lesions in high-risk HPV-positive women JOURNAL Int. J. Cancer 129 (9), 2218-2225 (2011) PUBMED 21190187 REMARK GeneRIF: the methylation marker panel CADM1-M18 and MAL-M1 may serve as an alternative molecular triage tool for hrHPV-positive women. REFERENCE 4 (bases 1 to 985) AUTHORS Anton,O.M., Andres-Delgado,L., Reglero-Real,N., Batista,A. and Alonso,M.A. TITLE MAL protein controls protein sorting at the supramolecular activation cluster of human T lymphocytes JOURNAL J. Immunol. 186 (11), 6345-6356 (2011) PUBMED 21508261 REMARK GeneRIF: Data show that MAL regulates membrane order and the distribution of microtubule and transport vesicle docking machinery at the IS and, by doing so, ensures correct protein sorting of Lck and LAT to the cSMAC. REFERENCE 5 (bases 1 to 985) AUTHORS Hesselink,A.T., Heideman,D.A., Steenbergen,R.D., Coupe,V.M., Overmeer,R.M., Rijkaart,D., Berkhof,J., Meijer,C.J. and Snijders,P.J. TITLE Combined promoter methylation analysis of CADM1 and MAL: an objective triage tool for high-risk human papillomavirus DNA-positive women JOURNAL Clin. Cancer Res. 17 (8), 2459-2465 (2011) PUBMED 21389098 REMARK GeneRIF: Data show that a combination of CADM1 and MAL methylation could represent a promising candidate triage tool for hrHPV-positive women. REFERENCE 6 (bases 1 to 985) AUTHORS Millan,J., Puertollano,R., Fan,L., Rancano,C. and Alonso,M.A. TITLE The MAL proteolipid is a component of the detergent-insoluble membrane subdomains of human T-lymphocytes JOURNAL Biochem. J. 321 (PT 1), 247-252 (1997) PUBMED 9003426 REFERENCE 7 (bases 1 to 985) AUTHORS Rancano,C., Rubio,T. and Alonso,M.A. TITLE Alternative splicing of human T-cell-specific MAL mRNA and its correlation with the exon/intron organization of the gene JOURNAL Genomics 21 (2), 447-450 (1994) PUBMED 8088843 REFERENCE 8 (bases 1 to 985) AUTHORS Rancano,C., Rubio,T., Correas,I. and Alonso,M.A. TITLE Genomic structure and subcellular localization of MAL, a human T-cell-specific proteolipid protein JOURNAL J. Biol. Chem. 269 (11), 8159-8164 (1994) PUBMED 8132541 REFERENCE 9 (bases 1 to 985) AUTHORS Alonso,M.A., Barton,D.E. and Francke,U. TITLE Assignment of the T-cell differentiation gene MAL to human chromosome 2, region cen----q13 JOURNAL Immunogenetics 27 (2), 91-95 (1988) PUBMED 3257199 REFERENCE 10 (bases 1 to 985) AUTHORS Alonso,M.A. and Weissman,S.M. TITLE cDNA cloning and sequence of MAL, a hydrophobic protein associated with human T-cell differentiation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (7), 1997-2001 (1987) PUBMED 3494249 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DT215613.1, X76680.1 and BC000458.2. On May 9, 2012 this sequence version replaced gi:12408662. 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]. 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). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BX457478.2, X76680.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-138 DT215613.1 4-141 139-432 X76680.1 1-294 433-985 BC000458.2 572-1124 FEATURES Location/Qualifiers source 1..985 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q11.1" gene 1..985 /gene="MAL" /note="mal, T-cell differentiation protein" /db_xref="GeneID:4118" /db_xref="HGNC:6817" /db_xref="HPRD:01789" /db_xref="MIM:188860" exon 1..231 /gene="MAL" /inference="alignment:Splign:1.39.8" misc_feature 94..96 /gene="MAL" /note="upstream in-frame stop codon" variation 118 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:200341801" CDS 139..432 /gene="MAL" /note="isoform c is encoded by transcript variant c; myelin and lymphocyte protein; T-lymphocyte maturation-associated protein" /codon_start=1 /product="myelin and lymphocyte protein isoform c" /protein_id="NP_071884.1" /db_xref="GI:12408663" /db_xref="CCDS:CCDS2008.1" /db_xref="GeneID:4118" /db_xref="HGNC:6817" /db_xref="HPRD:01789" /db_xref="MIM:188860" /translation="
MAPAAATGGSTLPSGFSVFTTLPDLLFIFEFDAAYHCTAALFYLSASVLEALATITMQDGFTYRHYHENIAAVVFSYIATLLYVVHAVFSLIRWKSS
" misc_feature <229..405 /gene="MAL" /note="Membrane-associating domain; Region: MARVEL; pfam01284" /db_xref="CDD:201710" STS 139..432 /gene="MAL" /standard_name="GDB:331320" /db_xref="UniSTS:156593" variation 143 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:377339355" variation 145 /gene="MAL" /replace="c" /replace="g" /db_xref="dbSNP:369944847" variation 147 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:199509227" variation 159 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:138435313" variation 162 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:373299589" variation 197..198 /gene="MAL" /replace="" /replace="cc" /db_xref="dbSNP:71734572" variation 197 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:145146615" variation 205 /gene="MAL" /replace="a" /replace="c" /db_xref="dbSNP:143011599" exon 232..357 /gene="MAL" /inference="alignment:Splign:1.39.8" variation 241 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:140265685" variation 247 /gene="MAL" /replace="g" /replace="t" /db_xref="dbSNP:77106368" variation 253 /gene="MAL" /replace="g" /replace="t" /db_xref="dbSNP:11553832" variation 260 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:137867670" variation 262 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:367581116" variation 271 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:113895068" variation 291 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:200135924" variation 324 /gene="MAL" /replace="c" /replace="g" /db_xref="dbSNP:138931615" variation 351 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:201691542" variation 354 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:149416032" exon 358..969 /gene="MAL" /inference="alignment:Splign:1.39.8" variation 358 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:139989847" variation 360 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:147251990" variation 386 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:61734216" variation 399 /gene="MAL" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:116607248" variation 402 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:139621459" variation 434 /gene="MAL" /replace="c" /replace="g" /db_xref="dbSNP:139187744" variation 477 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:200487878" variation 480 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:141636399" variation 506 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:147090133" STS 509..665 /gene="MAL" /standard_name="RH69079" /db_xref="UniSTS:2616" variation 547..548 /gene="MAL" /replace="" /replace="c" /db_xref="dbSNP:71382807" variation 553 /gene="MAL" /replace="c" /replace="g" /db_xref="dbSNP:374545322" variation 572 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:75051637" variation 573 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:79066966" variation 627 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:192956297" STS 750..949 /gene="MAL" /standard_name="WIAF-2545" /db_xref="UniSTS:60259" variation 771 /gene="MAL" /replace="a" /replace="c" /db_xref="dbSNP:184779179" variation 814 /gene="MAL" /replace="c" /replace="t" /db_xref="dbSNP:2033" variation 896 /gene="MAL" /replace="a" /replace="g" /db_xref="dbSNP:138440190" variation 935 /gene="MAL" /replace="a" /replace="c" /db_xref="dbSNP:41310787" ORIGIN
tcttctgccccgggctcccctgctcttaacccgcgcgcgggggcgcccaggccactgggctccgcggagccagcgagaggtctgcgcggagtctgagcggcgctcgtcccgtcccaaggccgacgccagcacgccgtcatggcccccgcagcggcgacggggggcagcaccctgcccagtggcttctcggtcttcaccaccttgcccgacttgctcttcatctttgagtttgacgcagcctaccactgcaccgctgccctcttttacctcagcgcctcagtcctggaggccctggccaccatcacgatgcaagacggcttcacctacaggcactaccatgaaaacattgctgccgtggtgttctcctacatagccactctgctctacgtggtccatgcggtgttctctttaatcagatggaagtcttcataaagccgcagtagaacttgagctgaaaacccagatggtgttaactggccgccccactttccggcataactttttagaaaacagaaatgcccttgatggtggaaaaaagaaaacaaccacccccccactgcccaaaaaaaaaagccctgccctgttgctcgtgggtgctgtgtttactctcccgtgtgccttcgcgtccgggttgggagcttgctgtgtctaacctccaactgctgtgctgtctgctagggtcacctcctgtttgtgaaaggggaccttcttgttcgggggtgggaagtggcgaccgtgacctgagaaggaaagaaagatcctctgctgacccctggagcagctctcgagaactacctgttggtattgtccacaagctctcccgagcgccccatcttgtgccatgttttaagtcttcatggatgttctgcatgtcatggggactaaaactcacccaacagatctttccagaggtccatggtggaagacgataaccctgtgaaatactttataaaatgtcttaatgttcaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:4118 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:4118 -> Molecular function: GO:0008289 [lipid binding] evidence: TAS GeneID:4118 -> Molecular function: GO:0015267 [channel activity] evidence: TAS GeneID:4118 -> Molecular function: GO:0016505 [peptidase activator activity involved in apoptotic process] evidence: NAS GeneID:4118 -> Molecular function: GO:0019911 [structural constituent of myelin sheath] evidence: IDA GeneID:4118 -> Biological process: GO:0001766 [membrane raft polarization] evidence: TAS GeneID:4118 -> Biological process: GO:0006915 [apoptotic process] evidence: NAS GeneID:4118 -> Biological process: GO:0006917 [induction of apoptosis] evidence: NAS GeneID:4118 -> Biological process: GO:0007417 [central nervous system development] evidence: TAS GeneID:4118 -> Biological process: GO:0030154 [cell differentiation] evidence: TAS GeneID:4118 -> Biological process: GO:0042552 [myelination] evidence: NAS GeneID:4118 -> Biological process: GO:0042552 [myelination] evidence: TAS GeneID:4118 -> Biological process: GO:0045176 [apical protein localization] evidence: TAS GeneID:4118 -> Cellular component: GO:0005768 [endosome] evidence: TAS GeneID:4118 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA GeneID:4118 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS GeneID:4118 -> Cellular component: GO:0016324 [apical plasma membrane] evidence: TAS GeneID:4118 -> Cellular component: GO:0019898 [extrinsic to membrane] evidence: IEA GeneID:4118 -> Cellular component: GO:0045121 [membrane raft] evidence: IDA
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