BDP1 - B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB Gene

Also Known as TFC5; TFNR; TAF3B1; DFNB112; TFIIIB''; TFIIIB90; HSA238520; TFIIIB150

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55814

About BDP1

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:71,455,651-71,578,288 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 198 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 5.4), lymph node (RPKM 4.2) and 25 other tissues.

Summary

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]

BDP1 Products (1)

mRNA Protein Name
NM_018429.3 NP_060899.2 transcription factor TFIIIB component B'' homolog
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16542149 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

transcription factor TFIIIB component B'' homolog

  • RNA polymerase III transcription initiation factor B''

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 112
  • DFNB112

  • Autosomal Recessive Nonsyndromic Deafness 112

  • Autosomal Recessive Deafness 112

  • Deafness, Autosomal Recessive, 112

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb
  • Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

  • Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

  • Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

  • Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Cerebellofaciodental Syndrome
  • Cerebellar-Facial-Dental Syndrome

  • CFDS

Breast Squamous Cell Carcinoma
  • Breast Primary Squamous Cell Carcinoma

  • Primary Squamous Cell Carcinoma Of Breast

  • Primary Squamous Cell Carcinoma Of The Breast

  • Scc Of Breast

  • Squamous Cell Carcinoma Of Breast

  • Squamous Cell Breast Carcinoma

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
  • HLD7

  • Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

  • Addh

  • Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

  • 4h Syndrome

  • 4h Leukodystrophy 1

  • Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

  • Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

  • Leukodystrophy With Oligodontia

  • Tach Syndrome

  • Tremor-Ataxia-Central Hypomyelination Syndrome

  • Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

  • Ataxia, Delayed Dentition, And Hypomyelination

  • Ataxia-Delayed Dentition-Hypomyelination Syndrome

  • Odontoleukodystrophy

  • Dentoleukoencephalopathy

  • Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

  • Ataxia-Delayed Dentition-Hypomyelination Syndrome

  • Ataxia Delayed Dentition And Hypomyelination

  • Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

  • Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

  • Tach

  • Tremor-Ataxia With Central Hypomyelination

  • Attention Deficit Hyperactivity Disorder

  • Leukodystrophy, Dysmyelinating, With Oligodontia

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome

Hypomyelinating Leukodystrophy
  • Hld

  • Leukodystrophy, Hypomyelinating

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus BDP1 VGNC VGNC:26462
Mus musculus BDP1 MGD MGI:1347077
Felis catus BDP1 VGNC VGNC:82459
Macaca mulatta BDP1 VGNC VGNC:70066
Rattus norvegicus BDP1 RGD RGD:1308512
Canis familiaris BDP1 VGNC VGNC:38426
Others BDP1 NCBI