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

Homo sapiens

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

Gene ID: 55814 | Gene type: protein coding

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01461	BDP1 Human Pre-designed siRNA Set A		/	Unkown

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