MAL

Protein identityUniProt · HPA

UniProt accession

P21145

Gene

MAL

Ensembl

ENSG00000172005

Chromosome

2

Canonical length

153 aa

Protein class

Predicted membrane proteins, Transporters

Subcellular location

Golgi apparatus,Centrosome,Basal body

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

153 residues, UniProt reviewed canonical sequence.

>P21145|MAL
     1  MAPAAATGGS TLPSGFSVFT TLPDLLFIFE FIFGGLVWIL VASSLVPWPL VQGWVMFVSV
    61  FCFVATTTLI ILYIIGAHGG ETSWVTLDAA YHCTAALFYL SASVLEALAT ITMQDGFTYR
   121  HYHENIAAVV FSYIATLLYV VHAVFSLIRW KSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MAL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

2,851 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MAL.

Disease | AllUniProt

Conditions MAL is implicated in, by any mechanism.

• Leukodystrophy, hypomyelinating, 28 (HLD28) MIM:620978

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.51

gnomAD pLI

0.83

gnomAD missense Z

0.41

DepMap mean gene effect

-0.15

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apical protein localization
• apoptotic process
• cell differentiation
• central nervous system development
• central nervous system myelination
• membrane raft polarization
• myelination
• positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
• protein localization to paranode region of axon
• protein insertion into plasma membrane

Molecular functions

• lipid binding
• peptidase activator activity involved in apoptotic process
• structural constituent of myelin sheath

Cellular components

• apical plasma membrane
• endoplasmic reticulum
• membrane
• membrane raft
• plasma membrane raft
• Schmidt-Lanterman incisure
• hinge region between urothelial plaques of apical plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Marvel domain
• Myelin and lymphocyte (MAL) protein
• MARVEL domain-containing and chemokine-like factor proteins
• Membrane-associating domain

KeywordsUniProt

• Cell membrane
• Leukodystrophy
• Lipoprotein
• Membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of MAL in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PLP1