FYTTD1: Forty-Two-Three Domain Containing 1
A gene encoding a protein involved in mRNA splicing and potentially linked to cancer and developmental disorders.
Gene Information Card
| Symbol | FYTTD1 |
|---|---|
| Full Name | Forty-Two-Three Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 84248 ncbi.nlm.nih.gov/gene/84248 |
| Ensembl ID | ENSG00000163947 |
| UniProt ID | Q96GX9 |
| OMIM ID | 617427 |
| HGNC ID | 25426 |
| Aliases | UIF, UAP56-interacting factor, FYTTD1 |
Description
FYTTD1 (Forty-Two-Three Domain Containing 1) encodes a protein that contains a U2AF homology motif (UHM) and functions as a splicing factor. It interacts with UAP56 (DDX39B) to facilitate mRNA export and splicing. The gene is located on chromosome 3q21.3 and is expressed in various tissues. Alterations in FYTTD1 have been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of splicing and mRNA export; overexpression observed in some tumors | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Potential role in neurodevelopment; mutations found in patients with intellectual disability | ClinVar entries for missense variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
| A549 | 6.8 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Ala146Val) | Missense | <0.1% | Unknown; variant of uncertain significance in ClinVar |
| c.622G>A (p.Gly208Arg) | Missense | <0.1% | Unknown; reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing | • via spliceosome |
| • RNA binding | • nucleus |
| • U2AF complex |
Pathways
• mRNA Splicing - Major Pathway
• Transport of Mature mRNA derived from an Intron-Containing Transcript
Protein Summary
The FYTTD1 protein (also known as UIF) is a 299-amino acid protein that contains a U2AF homology motif (UHM) at its N-terminus. It binds to UAP56 (DDX39B) and is involved in the coupling of splicing and mRNA export. The protein localizes to the nucleus and is part of the spliceosome complex. Its expression is regulated in a tissue-specific manner, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FYTTD1 Knockout HEK293 Cell Line | EDJ-KQ10029 | Human | 84248 | Details Get a Quote |
| FYTTD1 Knockout A-549 Cell Line | EDJ-KQ37024 | Human | 84248 | Details Get a Quote |
| FYTTD1 Knockout HCT 116 Cell Line | EDJ-KQ37025 | Human | 84248 | Details Get a Quote |
| FYTTD1 Knockout HeLa Cell Line | EDJ-KQ37026 | Human | 84248 | Details Get a Quote |
