Human Gene MAL (ENST00000309988.9) from GENCODE V44
  Description: Homo sapiens mal, T cell differentiation protein (MAL), transcript variant a, mRNA. (from RefSeq NM_002371)
RefSeq Summary (NM_002371): 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].
Gencode Transcript: ENST00000309988.9
Gencode Gene: ENSG00000172005.11
Transcript (Including UTRs)
   Position: hg38 chr2:95,025,708-95,053,992 Size: 28,285 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg38 chr2:95,025,793-95,053,455 Size: 27,663 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:95,025,708-95,053,992)mRNA (may differ from genome)Protein (153 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAL_HUMAN
DESCRIPTION: RecName: Full=Myelin and lymphocyte protein; AltName: Full=T-lymphocyte maturation-associated protein;
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.
INTERACTION: Q06187:BTK; NbExp=5; IntAct=EBI-3932027, EBI-624835; Q93009:USP7; NbExp=3; IntAct=EBI-3932027, EBI-302474;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DEVELOPMENTAL STAGE: Expressed in the intermediate and late stages of T-cell differentiation.
PTM: Lipoprotein.
SIMILARITY: Belongs to the MAL family.
SIMILARITY: Contains 1 MARVEL domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAL
Diseases sorted by gene-association score: metachromatic leukodystrophy (9), fucosidosis (6), esophageal cancer (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 964.98 RPKM in Esophagus - Mucosa
Total median expression: 2389.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.6085-0.466 Picture PostScript Text
3' UTR -147.60537-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013295 - MAL
IPR008253 - Marvel
IPR021128 - MARVEL-like_dom

Pfam Domains:
PF01284 - Membrane-associating domain

ModBase Predicted Comparative 3D Structure on P21145
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0016505 peptidase activator activity involved in apoptotic process
GO:0019911 structural constituent of myelin sheath

Biological Process:
GO:0001766 membrane raft polarization
GO:0006915 apoptotic process
GO:0007417 central nervous system development
GO:0030154 cell differentiation
GO:0042552 myelination
GO:0045176 apical protein localization
GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  KJ891577 - Synthetic construct Homo sapiens clone ccsbBroadEn_00971 MAL gene, encodes complete protein.
BC000458 - Homo sapiens mal, T-cell differentiation protein, mRNA (cDNA clone MGC:8492 IMAGE:2822079), complete cds.
BC003006 - Homo sapiens mal, T-cell differentiation protein, mRNA (cDNA clone MGC:4006 IMAGE:2822079), complete cds.
AK311844 - Homo sapiens cDNA, FLJ92107, Homo sapiens mal, T-cell differentiation protein (MAL), transcriptvariant a, mRNA.
M15800 - Human MAL protein gene mRNA, complete cds.
AB529205 - Synthetic construct DNA, clone: pF1KE1003, Homo sapiens MAL gene for mal, T-cell differentiation protein, without stop codon, in Flexi system.
CR541879 - Homo sapiens full open reading frame cDNA clone RZPDo834B0433D for gene MAL, mal, T-cell differentiation protein; complete cds, without stopcodon.
X76678 - H.sapiens MAL-a mRNA.
X76679 - H.sapiens MAL-b mRNA.
X76680 - H.sapiens MAL-c mRNA.
X76681 - H.sapiens MAL-d mRNA.
JD211014 - Sequence 192038 from Patent EP1572962.
JD457983 - Sequence 439007 from Patent EP1572962.
AK123269 - Homo sapiens cDNA FLJ41275 fis, clone BRAMY2036699.
JD027043 - Sequence 8067 from Patent EP1572962.
JD032029 - Sequence 13053 from Patent EP1572962.
JD327882 - Sequence 308906 from Patent EP1572962.
JD566427 - Sequence 547451 from Patent EP1572962.
JD428466 - Sequence 409490 from Patent EP1572962.
JD520708 - Sequence 501732 from Patent EP1572962.
JD467303 - Sequence 448327 from Patent EP1572962.
JD429980 - Sequence 411004 from Patent EP1572962.
JD166153 - Sequence 147177 from Patent EP1572962.
JD073408 - Sequence 54432 from Patent EP1572962.
JD311353 - Sequence 292377 from Patent EP1572962.
JD311354 - Sequence 292378 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000309988.1, ENST00000309988.2, ENST00000309988.3, ENST00000309988.4, ENST00000309988.5, ENST00000309988.6, ENST00000309988.7, ENST00000309988.8, MAL_HUMAN, NM_002371, P21145, Q6FH77, uc002stx.1, uc002stx.2, uc002stx.3, uc002stx.4
UCSC ID: ENST00000309988.9
RefSeq Accession: NM_002371
Protein: P21145 (aka MAL_HUMAN)
CCDS: CCDS2006.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.