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
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.
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.
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.
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