GENE REFERENCE / HGNC:8565

PABPN1

poly(A) binding protein nuclear 1

protein-coding gene14q11.2Gene information

What does this gene do?

The PABPN1 gene provides instructions for making a protein that is found throughout the body. The PABPN1 protein plays an important role in processing molecules called messenger RNAs (mRNAs), which serve as genetic blueprints for making proteins. The PABPN1 protein attaches (binds) to the end of an mRNA molecule at a region called the polyadenine tail or poly(A) tail. Poly(A) tails consist of many copies of a molecule called adenine, which is one of the building blocks of RNA and its chemical cousin, DNA. Poly(A) tails protect the mRNA from being broken down and allow the mRNA to be transported within the cell. The PABPN1 protein helps add adenines to the poly(A) tail through a process called polyadenylation. PABPN1 also helps transport mRNA out of the nucleus and may be involved in regulating mRNA production and the breakdown of poor quality mRNA.

Near the beginning of the PABPN1 protein is an area where 10 copies of the protein building block (amino acid) alanine occur in a row. This stretch of alanines is known as a polyalanine tract. The role of the polyalanine tract in PABPN1 protein function is unknown.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2018-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 129
Submissions for variants in or overlapping this gene: 186
Submissions explicitly reporting this gene: 150
Alleles reported pathogenic / likely pathogenic: 16
VariationIDs with uncertain significance: 58
VariationIDs with conflicting classifications: 6

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PABPN1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 16 alleles in PABPN1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PABPN1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →