BDP1 gene

B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]

From UniProt:

General activator of RNA polymerase III transcription. Requires for transcription from all three types of polymerase III promoters. Requires for transcription of genes with internal promoter elements and with promoter elements upstream of the initiation site.

Covered on Genetics Home Reference:

From NCBI Gene:

  • DEAFNESS, AUTOSOMAL RECESSIVE 112

From UniProt:

Deafness, autosomal recessive, 112 (DFNB112): A form of non-syndromic, sensorineural deafness characterized by postlingual progressive hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:618257]

Cytogenetic Location: 5q13.2, which is the long (q) arm of chromosome 5 at position 13.2

Molecular Location: base pairs 71,455,636 to 71,578,288 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 5q13.2, which is the long (q) arm of chromosome 5 at position 13.2
  • DFNB112
  • HSA238520
  • TAF3B1
  • TFC5
  • TFIIIB''
  • TFIIIB90
  • TFIIIB150
  • TFNR