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2024-04-20 20:05:15, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022438 1027 bp mRNA linear PRI 26-MAY-2013
DEFINITION Homo sapiens mal, T-cell differentiation protein (MAL), transcript
variant b, mRNA.
ACCESSION NM_022438
VERSION NM_022438.2 GI:386781930
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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 1027)
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, X76679.1 and
BC000458.2.
On May 9, 2012 this sequence version replaced gi:12408660.
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 (b) includes alternatively spliced
exon 2 but is missing exon 3, resulting in isoform b 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 :: X76679.1 [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
139-474 X76679.1 1-336
475-1027 BC000458.2 572-1124
FEATURES Location/Qualifiers
source 1..1027
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q11.1"
gene 1..1027
/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..474
/gene="MAL"
/note="isoform b is encoded by transcript variant b;
myelin and lymphocyte protein; T-lymphocyte
maturation-associated protein"
/codon_start=1
/product="myelin and lymphocyte protein isoform b"
/protein_id="NP_071883.1"
/db_xref="GI:12408661"
/db_xref="CCDS:CCDS2007.1"
/db_xref="GeneID:4118"
/db_xref="HGNC:6817"
/db_xref="HPRD:01789"
/db_xref="MIM:188860"
/translation="
MAPAAATGGSTLPSGFSVFTTLPDLLFIFEFIFGGLVWILVASSLVPWPLVQGWVMFVSVFCFVATTTLIILYIIGAHGGETSWVTLVFSYIATLLYVVHAVFSLIRWKSS
"
STS 139..474
/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..399
/gene="MAL"
/inference="alignment:Splign:1.39.8"
variation 287
/gene="MAL"
/replace="a"
/replace="t"
/db_xref="dbSNP:141511881"
variation 298
/gene="MAL"
/replace="c"
/replace="t"
/db_xref="dbSNP:150858137"
variation 324
/gene="MAL"
/replace="c"
/replace="t"
/db_xref="dbSNP:368992625"
variation 335
/gene="MAL"
/replace="c"
/replace="g"
/db_xref="dbSNP:201902217"
variation 346
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:147657459"
variation 351
/gene="MAL"
/replace="c"
/replace="g"
/db_xref="dbSNP:149950864"
variation 364
/gene="MAL"
/replace="c"
/replace="g"
/db_xref="dbSNP:370567810"
variation 373
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:145008901"
variation 376
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:146710044"
variation 387
/gene="MAL"
/replace="c"
/replace="t"
/db_xref="dbSNP:202002524"
exon 400..1011
/gene="MAL"
/inference="alignment:Splign:1.39.8"
variation 400
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:139989847"
variation 402
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:147251990"
variation 428
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:61734216"
variation 441
/gene="MAL"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:116607248"
variation 444
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:139621459"
variation 476
/gene="MAL"
/replace="c"
/replace="g"
/db_xref="dbSNP:139187744"
variation 519
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:200487878"
variation 522
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:141636399"
variation 548
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:147090133"
STS 551..707
/gene="MAL"
/standard_name="RH69079"
/db_xref="UniSTS:2616"
variation 589..590
/gene="MAL"
/replace=""
/replace="c"
/db_xref="dbSNP:71382807"
variation 595
/gene="MAL"
/replace="c"
/replace="g"
/db_xref="dbSNP:374545322"
variation 614
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:75051637"
variation 615
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:79066966"
variation 669
/gene="MAL"
/replace="c"
/replace="t"
/db_xref="dbSNP:192956297"
STS 792..991
/gene="MAL"
/standard_name="WIAF-2545"
/db_xref="UniSTS:60259"
variation 813
/gene="MAL"
/replace="a"
/replace="c"
/db_xref="dbSNP:184779179"
variation 856
/gene="MAL"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033"
variation 938
/gene="MAL"
/replace="a"
/replace="g"
/db_xref="dbSNP:138440190"
variation 977
/gene="MAL"
/replace="a"
/replace="c"
/db_xref="dbSNP:41310787"
ORIGIN
tcttctgccccgggctcccctgctcttaacccgcgcgcgggggcgcccaggccactgggctccgcggagccagcgagaggtctgcgcggagtctgagcggcgctcgtcccgtcccaaggccgacgccagcacgccgtcatggcccccgcagcggcgacggggggcagcaccctgcccagtggcttctcggtcttcaccaccttgcccgacttgctcttcatctttgagtttatcttcgggggcctggtgtggatcctggtggcctcctccctggtgccctggcccctggtccagggctgggtgatgttcgtgtctgtgttctgcttcgtggccaccaccaccttgatcatcctgtacataattggagcccacggtggagagacttcctgggtcaccttggtgttctcctacatagccactctgctctacgtggtccatgcggtgttctctttaatcagatggaagtcttcataaagccgcagtagaacttgagctgaaaacccagatggtgttaactggccgccccactttccggcataactttttagaaaacagaaatgcccttgatggtggaaaaaagaaaacaaccacccccccactgcccaaaaaaaaaagccctgccctgttgctcgtgggtgctgtgtttactctcccgtgtgccttcgcgtccgggttgggagcttgctgtgtctaacctccaactgctgtgctgtctgctagggtcacctcctgtttgtgaaaggggaccttcttgttcgggggtgggaagtggcgaccgtgacctgagaaggaaagaaagatcctctgctgacccctggagcagctctcgagaactacctgttggtattgtccacaagctctcccgagcgccccatcttgtgccatgttttaagtcttcatggatgttctgcatgtcatggggactaaaactcacccaacagatctttccagaggtccatggtggaagacgataaccctgtgaaatactttataaaatgtcttaatgttcaaaaaaaaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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