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MAL Gene

protein-coding   GIFtS: 62

GC02P095113
mal, T-cell differentiation protein
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Descriptions
T-cell differentiation protein MAL 2
T-lymphocyte maturation-associated protein 2, 3
mal, T-cell differentiation protein 2
myelin and lymphocyte protein 2
External Ids
HGNC: 68171
Entrez Gene: 41182
UniProtKB: P211453
Ensembl: ENSG000001720057
Search outside databases for aliases for MAL gene

Previous GC identifers: GC02P093589 GC02P094125 GC02P095159 GC02P095176

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MAL:
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. [provided by RefSeq]

UniProtKB/Swiss-Prot: MAL_HUMAN, P21145
Function: Could be an important component in vesicular trafficking cycling between the Golgi
complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin
function

Gene Wiki entry for MAL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAL gene  

Entrez Gene cytogenetic band: 2cen-q13   Ensembl cytogenetic band:  2q11.1   HGNC cytogenetic band: 2q11.1

MAL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P095113:     (about GC identifiers)

Start:
95,055,156 bp from pter
End:
95,083,462 bp from pter
Size:
28,307 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_026970.9  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: MAL_HUMAN, P21145 (See protein sequence)
Recommended Name: Myelin and lymphocyte protein  
Size: 153 amino acids; 16714 Da
Subcellular location: Membrane; Multi-pass membrane protein
Developmental stage: Expressed in the intermediate and late stages of T-cell differentiation
Alternative splicing: 4 isoforms:  P21145-1   P21145-2   P21145-3   P21145-4   

Post-translational modifications:

  • Lipoprotein1


  • REFSEQ proteins (4 alternative transcripts): 
    NP_002362.1  NP_071883.1  NP_071884.1  NP_071885.1  


    ENSEMBL proteins: 
    ENSP00000310880 ENSP00000306568 ENSP00000322860 ENSP00000304924 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (MAL)
    Human Recombinant Proteins from Abnova (MAL)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005768 endosome TAS9003426
    GO:0005783 endoplasmic reticulum IDA8132541
    GO:0005887 integral to plasma membrane TAS9003426
    GO:0016020 membrane IEA--
    GO:0016324 apical plasma membrane TAS10739088
    About this table

    Antibodies for MAL: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (MAL), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (MAL)
    Novus Biologicals Antibody for MAL

    Assays for MAL: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    2 InterPro domains/families:
     IPR013295 MAL
     IPR008253 Marvel


       GeneDecks  MAL for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P21145

    ProtoNet protein and cluster: P21145

    1 Blocks protein family: IPB008253 Marvel

    UniProtKB/Swiss-Prot: MAL_HUMAN, P21145
    Similarity: Belongs to the MAL family
    Similarity: Contains 1 MARVEL domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MAL)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_022438

                  Applied Biosystems Silencer® siRNAs for MAL

                  Sigma-Aldrich siRNA and siRNA Panels for MAL  
                         Sigma-Aldrich shRNA Panels and shRNA for MAL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for MAL
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002371
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002371
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_002371 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_002371

    UniProtKB/Swiss-Prot: MAL_HUMAN, P21145
    Function: Could be an important component in vesicular trafficking cycling between the Golgi
    complex and the apical plasma membrane. Could be involved in myelin biogenesis and/or myelin
    function

    Genatlas biochemistry entry for MAL:
    T-cell differentiation proteolipid protein,localized in the endoplasmic reticulum

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mal):

    nervous systemvision/eye

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289 lipid binding TAS10739088
    GO:0015267 channel activity TAS3494249
    GO:0016505 apoptotic protease activator activity NAS10366425
    GO:0019911 structural constituent of myelin sheath IDA12153479
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  MAL 


    2 Interacting proteins for MAL (ENSP000003108803) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TIRAPENSP000002799923STRING (score=.881)
    TSPAN4ENSP000003243043STRING (score=.714)
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001766 membrane raft polarization TAS12153479
    GO:0006917 induction of apoptosis NAS10366425
    GO:0007417 central nervous system development TAS10739088
    GO:0030154 cell differentiation TAS10739088
    GO:0042552 myelination TAS10428054
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for MAL
    3 Novoseek chemical compound relationships for MAL gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipid 23.44 5 9168919 (1), 16785208 (1), 11739628 (1), 19208741 (1)
    cholesterol 19.42 3 9168919 (1), 17494867 (1), 9126323 (1)
    sucrose 14.83 3 9168919 (1), 9003426 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MAL)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_022438

                  Sigma-Aldrich siRNA and siRNA Panels for MAL  
                         Sigma-Aldrich shRNA Panels and shRNA for MAL  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_002371  NM_022438  NM_022439  NM_022440  

    REFSEQ mRNAs for MAL gene (4 alternative transcripts): 

    NM_002371.2   NM_022438.1   NM_022439.1   NM_022440.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_002371  NM_022438  NM_022439  NM_022440  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002371
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002371
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_002371 

    Additional cDNA sequence: 

    AK096093.1 AK123269.1 AK311844.1 BC000458.2 BC003006.1 CR541879.1 M15800.1 X76678.1 
    X76679.1 X76680.1 X76681.1 

    6 DOTS entries:

    DT.451570  DT.97817686  DT.95272873  DT.99935745  DT.97806374  DT.92428352 

    24/134 AceView cDNA sequences (see all 134 ):

    AA025979 NM_002371 BM703177 BX457478 AA227594 BM664675 CR541879 H41612 
    C00666 H20324 BC000458 AU099297 BI755543 T87640 X76680 CD674955 
    BC003006 X76679 AA341422 X76681 BQ067434 AA227727 AK096093 X76678 

    highest scoring ESTs for MAL:

    AA025161 AA025979 AA227594 AA227727 AA227885 AA228104 AA341422 AA640014 AA741204 AA769626 

    Unigene Cluster for MAL:

    Mal, T-cell differentiation protein
    Hs.80395  [show with all ESTs]
    Unigene Representative Sequence: AK096093


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MAL

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
    SP1:                    -                                 
    SP2:                    -     -                           
    SP3:                    -           -                     
    SP4:                                                      

    About this scheme

    ECgene alternative splicing isoforms for MAL

    4 Ensembl transcripts including schematic representations:
    ENST00000309988  ENST00000353004  ENST00000349807  ENST00000354078  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MAL expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MAL

    1 / 2 / 3

    3 probe-sets matching MAL gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    38051_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 X76220 0.20 1.00 0.72 1

    204777_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002371 0.60 1.00 0.82 1

    204777_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MAL for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTGGAAGACG

    SOURCE GeneReport for Unigene cluster: Hs.80395

    Expression variation in blood from EXPOLDB for MAL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MAL gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MAL1   -- mal, T-cell differentiation protein 86.49(n)
    88.24(a)
    403933  NM_001003253.1  NP_001003253.1 
    chimpanzee
    (Pan troglodytes)
    MAL1   -- mal, T-cell differentiation protein 99.13(n)
    99.35(a)
    459398  XM_001142580.1  XP_001142580.1 
    cow
    (Bos taurus)
    MAL1   -- mal, T-cell differentiation protein 80.17(n)
    79.74(a)
    510077  NM_001075428.1  NP_001068896.1 
    rat
    (Rattus norvegicus)
    Mal1   -- mal, T-cell differentiation protein 86.93(n)
    88.89(a)
    25263  NM_012798.1  NP_036930.1 
    mouse
    (Mus musculus)
    Mal1, 5 25
    myelin and lymphocyte protein, T-cell differentiation more1, 5 85.84(n)1
    86.93(a)1
    171531  NM_010762.41  NP_034892.11 
     AK0046395  AK0190465  (see all 16)
    About this table        Species with no ortholog for MAL

    ENSEMBL Gene Tree for MAL
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MAL gene
    MAL22  MALL2  PLLP2  CMTM82  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/57 NCBI SNPs in MAL are shown (see all 57 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 30)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs20331,2
    C,H95083309(-) GAGACT/CTGTGG 4 -- ut31 ese35Minor allele frequency- C:0.00MN EU EA WA 602
    rs31129821,2
    A,C,F,H,O95079594(+) GGACCC/TGGCAT 4 -- int111Minor allele frequency- T:0.41NA EU EA WA 980
    rs31050991,2
    A,C,F,H,O95071246(+) TCTCCG/AAGTTC 4 -- int111Minor allele frequency- A:0.24NA EU EA WA 980
    rs31050981,2
    A,C,F,H,O95061937(-) ACTGAG/CACTGG 4 -- int112Minor allele frequency- C:0.26EA NA EU WA 1056
    rs31130021,2
    A,C,F,H,O95064457(+) GCATCA/GGTAGG 4 -- int18Minor allele frequency- N:0.00EA NA EU WA 634
    rs13168731,2
    A,C,F,H95062373(-) AAAATG/CATTCA 4 -- int112Minor allele frequency- C:0.20EA NA EU WA 988
    rs48542421,2
    C,F,H95065816(+) GTGCCA/GACTAC 4 -- int14Minor allele frequency- G:0.07EU EA WA 420
    rs31129831,2
    C,F,H95080371(+) GGTGAC/GCCACC 4 -- int14Minor allele frequency- G:0.21EU EA WA 418
    rs102018861,2
    F,H95074249(+) CTCCGC/TGCAGC 4 -- int14Minor allele frequency- T:0.06EU EA WA 420
    rs28742831,2
    C,H95062273(+) GGTCAT/CGAACG 4 -- int14Minor allele frequency- C:0.00EU EA WA 420
    About this table

    HapMap Linkage Disequilibrium images for MAL (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 188860

    2 Novoseek disease relationships for MAL gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 3.08 3 19002170 (1), 12776198 (1)
    tumors 0.00 10 15188492 (2), 19445022 (2), 12429796 (2), 16952549 (1) (see all 5)
    About this table

    1 PharmGKB disease relationship for MAL gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    About this table

    Human Gene Mutation Database: MAL
    Human Genome Epidemiology Navigator: MAL (16 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/44 PubMed articles for MAL gene (see all 44 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 4118 HGNC: 6817 AceView: MAL Ensembl:ENSG00000172005 euGenes: HUgn4118
    ECgene: MAL H-InvDB: MAL
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for MAL:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
      Invitrogen Clones  Invitrogen Q-PCR Products
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     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for MAL Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for MAL Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for MAL

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