TPR Chromosome 1
Translocated promoter region, nuclear basket protein
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What This Gene Does
This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
1q31.1
Ensembl
ENSG00000047410
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200209324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200918816 | Health Risk | Conflicting classifications of pathogenicity | — |