TCOF1
Sign in to saveAlso known as MFD1, TCS, TCS1, treacle, treacle ribosome biogenesis factor 1
Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene. TCOF1 encodes a nucleolar protein with an LIS1 homology domain. The treacle protein is involved in rRNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date
Gene data
TCOF1- Name
- treacle ribosome biogenesis factor 1
- Type
- protein-coding
- Position
- 150,357,629–150,400,510 (+)
- Aliases
- MFD1, TCS, TCS1, treacle
- Ensembl
- ENSG00000070814
- RefSeq RNA
- NM_000356.4, NM_001008656.2, NM_001008657.3, NM_001135243.2, NM_001135244.2
- RefSeq protein
- NP_000347.2, NP_001008657.1, NP_001128715.1, NP_001128716.1, NP_001128717.1
This gene encodes a nucleolar protein with a LIS1 homology domain. The protein is involved in ribosomal DNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
treacle ribosome biogenesis factor 1
- Symbol
- TCOF1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 5:150,357,629-150,400,510
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~3 min read
Encyclopedic overview
7 sectionsContents
- Gene
- Function
- Clinical significance
- Model organisms
- References
- Further reading
- External links
Treacle Ribosome Biogenesis Factor 1 (TCOF1) also known as Treacle is a protein that in humans is encoded by the TCOF1 gene. TCOF1 encodes a nucleolar protein with an LIS1 homology domain. The treacle protein is involved in rRNA gene transcription through its interaction with upstream binding factor (UBF). Mutations in this gene have been associated with Treacher Collins syndrome, a disorder which includes abnormal craniofacial development. Alternate transcriptional splice variants encoding different isoforms have been found for this gene, but only three of them have been characterized to date.
== Gene ==
Excerpted from Wikipedia’s “TCOF1” article, available under the CC BY-SA 4.0 licence.