MPP5

Protein PALS1 Q8N3R9 PALS1_HUMAN
Swiss-Prot reviewed
Mutations
516
CL 65 · Tissue 447
Samples
231
CL 30 · Tissue 199
Peptides
193
unique mutant peptides
Transcripts
3
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations51665447
Samples23130199
Peptides19328168

Function

MPP5 · Protein PALS1

Plays a role in tight junction biogenesis and in the establishment of cell polarity in epithelial cells (PubMed:16678097, PubMed:25385611). Also involved in adherens junction biogenesis by ensuring correct localization of the exocyst complex protein EXOC4/SEC8 which allows trafficking of adherens junction structural component CDH1 to the cell surface (By similarity). Plays a role through its interaction with CDH5 in vascular lumen formation and endothelial membrane polarity (PubMed:27466317). Required during embryonic and postnatal retinal development (By similarity). Required for the maintenance of cerebellar progenitor cells in an undifferentiated proliferative state, preventing premature differentiation, and is required for cerebellar histogenesis, fissure formation, cerebellar layer organization and cortical development (By similarity). Plays a role in neuronal progenitor cell survival, potentially via promotion of mTOR signaling (By similarity). Plays a role in the radial and longitudinal extension of the myelin sheath in Schwann cells (By similarity). May modulate SC6A1/GAT1-mediated GABA uptake by stabilizing the transporter (By similarity). Plays a role in the T-cell receptor-mediated activation of NF-kappa-B (PubMed:21479189). Required for localization of EZR to the apical membrane of parietal cells and may play a role in the dynamic remodeling of the apical cytoskeleton (By similarity). Required for the normal polarized localization of the vesicular marker STX4 (By similarity). Required for the correct trafficking of the myelin proteins PMP22 and MAG (By similarity). Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7 (By similarity)

Isoforms & Proteins

3 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000261681 Q8N3R9 244 190
ENST00000555925 Q8N3R9-2 230 177
ENST00000556345 G3V2B0* 42 38

Gene Properties

Recurrent Mutations

All 190 amino-acid changes on canonical ENST00000261681 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in MPP5 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MPP5 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
18/612 3%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Squamous Cell Lung Carcinoma
2/57 4%
10/810 1%
Bladder Carcinoma
0/58 0%
13/956 1%
Colorectal Carcinoma
8/143 6%
30/3239 1%
Cervical Carcinoma
0/35 0%
5/422 1%
Melanoma
0/210 0%
22/1899 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Other Solid Cancers
0/94 0%
9/1515 1%
Head and Neck Carcinoma
1/85 1%
8/1574 1%
Other Sarcomas
1/69 1%
3/699 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
13/2550 1%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Non-Small Cell Lung Carcinoma
2/304 1%
5/1390 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Ovarian Carcinoma
1/109 1%
3/998 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
5/2534 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Pancreatic Carcinoma
1/89 1%
4/1611 0%
Breast Carcinoma
2/144 1%
8/3264 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Medulloblastoma
0/0 0%
1/450 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Glioma
0/52 0%
4/2127 0%
Other Blood Cancers
1/61 2%
2/2725 0%
Non-Cancerous
0/104 0%
1/830 0%

Mutation Distribution

Where MPP5 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MPP5 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 516 mutations in MPP5

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide