PRKAB1

Protein kinase AMP-activated non-catalytic subunit beta 1 Q9Y478 AAKB1_HUMAN
Protein Coding Chr 12 12q24.23 Swiss-Prot reviewed Entrez 5564
Mutations
255
CL 37 · Tissue 217
Samples
103
CL 21 · Tissue 81
Peptides
93
unique mutant peptides
Transcripts
4
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
Mutations25537217
Samples1032181
Peptides931976

Function

PRKAB1 · Protein kinase AMP-activated non-catalytic subunit beta 1

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

4 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
ENST00000229328 Q9Y478 105 85
ENST00000541640 Q9Y478 93 77
ENST00000540121 F5H2X8* 37 29
ENST00000630317 F5H4Y8* 20 17

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.23
Entrez ID
Aliases
AMPKHAMPKb

Recurrent Mutations

All 85 amino-acid changes on canonical ENST00000229328 · 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 PRKAB1 · 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 PRKAB1 – 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
3/42 7%
11/612 2%
Chondrosarcoma
1/14 7%
0/75 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Colorectal Carcinoma
5/143 4%
16/3239 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Cervical Carcinoma
0/35 0%
2/422 0%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Melanoma
0/210 0%
8/1899 0%
Gastric Carcinoma
0/74 0%
6/1809 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Non-Small Cell Lung Carcinoma
0/304 0%
4/1390 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
Pancreatic Carcinoma
1/89 1%
2/1611 0%
B-Lymphoblastic Leukemia
2/55 4%
2/2640 0%
Neuroblastoma
0/87 0%
2/1331 0%
Breast Carcinoma
1/144 1%
3/3264 0%
Squamous Cell Lung Carcinoma
1/57 2%
0/810 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%

Mutation Distribution

Where PRKAB1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PRKAB1 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 255 mutations in PRKAB1

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