LOCUS       NM_002371               1084 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens mal, T cell differentiation protein (MAL), transcript
            variant a, mRNA.
ACCESSION   NM_002371
VERSION     NM_002371.4
KEYWORDS    RefSeq; MANE Select.
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 1084)
  AUTHORS   Zheng,R., Yao,B., Ye,Y., Luo,R., Wu,Z., Hu,X., Yuan,Y., Pan,X.,
            Liu,C., Huang,L., Luo,Y., Yang,D., Shang,N., Tian,Y. and Jia,J.
  TITLE     MAL, a potential immunotherapy target, is associated with poor
            prognosis in cancer patients
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 70 (4), 248-254 (2024)
   PUBMED   38678596
  REMARK    GeneRIF: MAL, a potential immunotherapy target, is associated with
            poor prognosis in cancer patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1084)
  AUTHORS   Sinha,A., Ghosh,A., Ghosh,A., Mathai,S., Bhaumik,J.,
            Mukhopadhyay,A., Maitra,A., Biswas,N.K. and Sengupta,S.
  TITLE     MAL expression downregulation through suppressive H3K27me3 marks at
            the promoter in HPV16-related cervical cancers is prognostically
            relevant and manifested by the interplay of novel MAL antisense
            long noncoding RNA AC103563.8, E7 oncoprotein and EZH2
  JOURNAL   Clin Epigenetics 16 (1), 40 (2024)
   PUBMED   38461243
  REMARK    GeneRIF: MAL expression downregulation through suppressive H3K27me3
            marks at the promoter in HPV16-related cervical cancers is
            prognostically relevant and manifested by the interplay of novel
            MAL antisense long noncoding RNA AC103563.8, E7 oncoprotein and
            EZH2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1084)
  AUTHORS   Elpidorou,M., Poulter,J.A., Szymanska,K., Baron,W., Junger,K.,
            Boldt,K., Ueffing,M., Green,L., Livingston,J.H., Sheridan,E.G. and
            Johnson,C.A.
  TITLE     Missense mutation of MAL causes a rare leukodystrophy similar to
            Pelizaeus-Merzbacher disease
  JOURNAL   Eur J Hum Genet 30 (7), 860-864 (2022)
   PUBMED   35217805
REFERENCE   4  (bases 1 to 1084)
  AUTHORS   Geng,Z., Li,J., Li,S., Wang,Y., Zhang,L., Hu,Q., Wang,X., Zuo,L.,
            Song,X., Zhang,X., Ge,S. and Hu,J.
  TITLE     MAL protein suppresses the metastasis and invasion of GC cells by
            interfering with the phosphorylation of STAT3
  JOURNAL   J Transl Med 20 (1), 50 (2022)
   PUBMED   35093120
  REMARK    GeneRIF: MAL protein suppresses the metastasis and invasion of GC
            cells by interfering with the phosphorylation of STAT3.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1084)
  AUTHORS   Leitner,J., Mahasongkram,K., Schatzlmaier,P., Pfisterer,K.,
            Leksa,V., Pata,S., Kasinrerk,W., Stockinger,H. and Steinberger,P.
  TITLE     Differentiation and activation of human CD4 T cells is associated
            with a gradual loss of myelin and lymphocyte protein
  JOURNAL   Eur J Immunol 51 (4), 848-863 (2021)
   PUBMED   33345332
  REMARK    GeneRIF: Differentiation and activation of human CD4 T cells is
            associated with a gradual loss of myelin and lymphocyte protein.
REFERENCE   6  (bases 1 to 1084)
  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) (Pt 1), 247-252 (1997)
   PUBMED   9003426
REFERENCE   7  (bases 1 to 1084)
  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 1084)
  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 1084)
  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 1084)
  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, X76678.1 and
            BC000458.2.
            
            On Nov 22, 2018 this sequence version replaced NM_002371.3.
            
            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 (a) includes both alternatively
            spliced exons 2 and 3, resulting in the longest 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 :: BC000458.2, SRR1660807.103390.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309988.9/ ENSP00000310880.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-85                DT215613.1         57-141
            86-547              X76678.1           1-462
            548-1084            BC000458.2         572-1108
FEATURES             Location/Qualifiers
     source          1..1084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.1"
     gene            1..1084
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /note="mal, T cell differentiation protein"
                     /db_xref="GeneID:4118"
                     /db_xref="HGNC:HGNC:6817"
                     /db_xref="MIM:188860"
     exon            1..178
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /inference="alignment:Splign:2.1.0"
     CDS             86..547
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /note="isoform a is encoded by transcript variant a;
                     myelin and lymphocyte protein; T-lymphocyte
                     maturation-associated protein"
                     /codon_start=1
                     /product="myelin and lymphocyte protein isoform a"
                     /protein_id="NP_002362.1"
                     /db_xref="CCDS:CCDS2006.1"
                     /db_xref="GeneID:4118"
                     /db_xref="HGNC:HGNC:6817"
                     /db_xref="MIM:188860"
                     /translation="MAPAAATGGSTLPSGFSVFTTLPDLLFIFEFIFGGLVWILVASS
                     LVPWPLVQGWVMFVSVFCFVATTTLIILYIIGAHGGETSWVTLDAAYHCTAALFYLSA
                     SVLEALATITMQDGFTYRHYHENIAAVVFSYIATLLYVVHAVFSLIRWKSS"
     exon            179..346
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /inference="alignment:Splign:2.1.0"
     exon            347..472
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /inference="alignment:Splign:2.1.0"
     exon            473..1084
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1063..1068
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /note="hexamer: TATAAA"
     polyA_site      1084
                     /gene="MAL"
                     /gene_synonym="HLD28; MVP17; VIP17"
                     /note="major polyA site"
ORIGIN      
        1 actgggctcc gcggagccag cgagaggtct gcgcggagtc tgagcggcgc tcgtcccgtc
       61 ccaaggccga cgccagcacg ccgtcatggc ccccgcagcg gcgacggggg gcagcaccct
      121 gcccagtggc ttctcggtct tcaccacctt gcccgacttg ctcttcatct ttgagtttat
      181 cttcgggggc ctggtgtgga tcctggtggc ctcctccctg gtgccctggc ccctggtcca
      241 gggctgggtg atgttcgtgt ctgtgttctg cttcgtggcc accaccacct tgatcatcct
      301 gtacataatt ggagcccacg gtggagagac ttcctgggtc accttggacg cagcctacca
      361 ctgcaccgct gccctctttt acctcagcgc ctcagtcctg gaggccctgg ccaccatcac
      421 gatgcaagac ggcttcacct acaggcacta ccatgaaaac attgctgccg tggtgttctc
      481 ctacatagcc actctgctct acgtggtcca tgcggtgttc tctttaatca gatggaagtc
      541 ttcataaagc cgcagtagaa cttgagctga aaacccagat ggtgttaact ggccgcccca
      601 ctttccggca taacttttta gaaaacagaa atgcccttga tggtggaaaa aagaaaacaa
      661 ccaccccccc actgcccaaa aaaaaaagcc ctgccctgtt gctcgtgggt gctgtgttta
      721 ctctcccgtg tgccttcgcg tccgggttgg gagcttgctg tgtctaacct ccaactgctg
      781 tgctgtctgc tagggtcacc tcctgtttgt gaaaggggac cttcttgttc gggggtggga
      841 agtggcgacc gtgacctgag aaggaaagaa agatcctctg ctgacccctg gagcagctct
      901 cgagaactac ctgttggtat tgtccacaag ctctcccgag cgccccatct tgtgccatgt
      961 tttaagtctt catggatgtt ctgcatgtca tggggactaa aactcaccca acagatcttt
     1021 ccagaggtcc atggtggaag acgataaccc tgtgaaatac tttataaaat gtcttaatgt
     1081 tcaa
//
