ATP1A1

ATPase Na+/K+ transporting subunit alpha 1 P05023 AT1A1_HUMAN
Protein Coding Chr 1 1p13.1 Swiss-Prot reviewed Entrez 476
Mutations
1,172
CL 128 · Tissue 1,026
Samples
408
CL 69 · Tissue 332
Peptides
332
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
Mutations1,1721281,026
Samples40869332
Peptides33242288

Function

ATP1A1 · ATPase Na+/K+ transporting subunit alpha 1

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].

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
ENST00000295598 P05023 445 325
ENST00000537345 P05023-4 370 301
ENST00000369496 P05023-3 357 293

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p13.1
Entrez ID
Aliases
CMT2DDHOMGSMR2

Recurrent Mutations

All 325 amino-acid changes on canonical ENST00000295598 · 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 ATP1A1 · 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 ATP1A1 – 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
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
6/42 14%
26/612 4%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Unknown
0/10 0%
1/29 3%
Colorectal Carcinoma
20/143 14%
44/3239 1%
Melanoma
3/210 1%
30/1899 2%
Cervical Carcinoma
2/35 6%
5/422 1%
Gastric Carcinoma
0/74 0%
28/1809 2%
Burkitts Lymphoma
3/32 9%
0/196 0%
Bladder Carcinoma
0/58 0%
13/956 1%
Non-Cancerous
0/104 0%
10/830 1%
Glioblastoma
1/98 1%
0/0 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
26/2550 1%
Rhabdomyosarcoma
2/33 6%
0/171 0%
Non-Small Cell Lung Carcinoma
5/304 2%
11/1390 1%
Other Solid Cancers
0/94 0%
13/1515 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Hepatocellular Carcinoma
0/46 0%
17/2210 1%
Thyroid Gland Carcinoma
2/45 4%
10/1592 1%
Breast Carcinoma
2/144 1%
22/3264 1%
Squamous Cell Lung Carcinoma
1/57 2%
5/810 1%
Medulloblastoma
0/0 0%
3/450 1%
Glioma
1/52 2%
13/2127 1%
Ovarian Carcinoma
2/109 2%
5/998 0%
Esophageal Carcinoma
0/23 0%
5/769 1%
Kidney Carcinoma
2/85 2%
10/1862 1%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Sarcomas
2/69 3%
2/699 0%
Head and Neck Carcinoma
0/85 0%
8/1574 1%

Mutation Distribution

Where ATP1A1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ATP1A1 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 1,172 mutations in ATP1A1

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