Gene Gene information from NCBI Gene database.
Entrez ID 55814
Gene name BDP1 general transcription factor IIIB subunit
Gene symbol BDP1
Synonyms (NCBI Gene)
DFNB112HSA238520TAF3B1TFC5TFIIIB''TFIIIB150TFIIIB90TFNR
Chromosome 5
Chromosome location 5q13.2
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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs199721728 T>G Pathogenic Intron variant, 3 prime UTR variant, stop lost, terminator codon variant
rs1187285510 G>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
485
miRTarBase ID miRNA Experiments Reference
MIRT023450 hsa-miR-30b-5p Sequencing 20371350
MIRT045090 hsa-miR-186-5p CLASH 23622248
MIRT721910 hsa-miR-2681-3p HITS-CLIP 19536157
MIRT721911 hsa-miR-150-5p HITS-CLIP 19536157
MIRT721909 hsa-miR-4764-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
GO ID Ontology Definition Evidence Reference
GO:0000126 Component Transcription factor TFIIIB complex IBA
GO:0001156 Function TFIIIC-class transcription factor complex binding IBA
GO:0005515 Function Protein binding IPI 16542149
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607012 13652 ENSG00000145734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A6H8Y1
Protein name Transcription factor TFIIIB component B'' homolog (Transcription factor IIIB 150) (TFIIIB150) (Transcription factor-like nuclear regulator)
Protein function 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 in
PDB 5N9G , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15963 Myb_DNA-bind_7 293 398 Myb DNA-binding like Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is highly expressed in cerebellum. {ECO:0000269|PubMed:11161782}.
Sequence
MFRRARLSVKPNVRPGVGARGSTASNPQRGRESPRPPDPATDSASKPAEPTDVPTVDFGG
AEPQEKAPRSSTEKTGGDNDVEESSRSSSTVSQRRKRISSTSSLVKSSVSVPSESHPLST
INQEAPQPTATSTKEKQPCSDRYRIYKAQKLREMLKEELRKEKKQWKNKYAINESQRPPD
RSKMTMRDFIYYLPDNNPMTSSLEQEKKTEKPSTPVQTREQEGKSTPNAEDNEMEEETDD
GPLLVPRVKVAEDGSIILDEESLTVEVLRTKGPCVVEENDPIFERGSTTTYSSFRKNYYS
KPWSNKETDMFFLAISMVGTDFSMIGQLFPHRARIEIKNKFKREEKTNGWRIDKAFQEKR
PFDFDFFAHLLQKVLAEEEKRKQKSVKNHSLKEKKSTK
PRKNVKVKKVACEGVNNDPDES
MSSRISDTERSQKDAQTVEEESLTLSREDAEQVALEVDLNQKKRRRKKQDGANELGVNNL
LENATVQAGPSKGEKHKNKCQAIRPELKEGECSKEQMLSCTQNIDGIVGFASTEKVEKRT
DPILSLSNQQDATSVATESSESSTSDLPSFEVGIRALCEVNNAEGSCIEERNVDLKNNSL
EIDQTENVKPMLRGRFQRPKPNLSRAGKKSVLSQGKTESESKNSHSKTSVEKNHVEKDKM
NTLDILRMETTERENPEAETVSVLGEKNCLQEGSQLKALRPVQVRGRLQKPKPNAGKAAE
RKEILISQEEIGANVEKNENESCADRDTPQHMEDQSRKDFEEEDVILQPEKNDSFQNVQP
DEPKVLNECLSVQENNKANKLNQVPILRTRFQKPKPNIGRGTGRREISSKEEVLEKILVS
GEMAAALRETVRLDTSPKEMVPAEINTKEMQSDLKETGRRAISPREKILDVIDDTIEMET
GLKAMGREICLREKTPEVIDATEEIDKDLEEAGRREISPQKNGPEEVKPLGEVETDLKAT
GNESSPREKTPEVTDATEEIDKNLEETGRRKISPRENGPEEVKPVDEMETDLNATGRESS
PREKTPEVIDATEEIDLEETEREVSPQENGLEEVKPLGEMETDLKATGRDSFPRGKTPEV
IDAIEEIEIDLEETEREISPQENGLEEVKPLGEMQTDLKATGREISPREKTPEVIDATEE
IDKDLEETGRREISPEENGPEEVKPVDEMETDLKTTGREGSSREKTREVIDAAEVIETDL
EETEREISPQENGPEEVKPVGKMETDLKEIREEISQREKVLAEFSAIREKEIDLKETGKR
DIPIMEKVSGKMAVVEEMEADLKETGKENFRERGSEEICVTEEKVAELKQTGKTDISPRE
NELEETSTSRQTDTHLMQSGSNDFSAVPSLDIQNISSEVLSMMHTPVEEKRNSEKEVSSH
FSHFKISSQTHESDKTEVQGIQSPDVPEQFSDINLSKSLPQEQKPLEIKPAPFVRSRFKR
PKPNLARAALKRETTESEKYIYEKKSETKKMETIVMQENNEQTDTLPSQHDEASLMISRE
KDTLGHRNEEAVILPCTQTERNLSPSNSCEPKEESQSAPVQKNDSVVSVGTNNVNTFQQE
MKESVIQTARQVRGRLQRPRPNIRKTGQRQIVDKGEAKGIIKEGRTILPKDETEKKVLTV
SNSQIETEIEVPSSAVPEHRMYENQSQVVLVENLHVNKTNETIRHENKPYVPSSAQMTRR
KFQKAKPNLGRAHSKKEEPVLEKVTTDQSKEGKPEDHLLQKGASNTQLLLKEKAELLTSL
EVSARKDCVGSKESALAKIDAELEEVGPSRRVGEETVGDNSPSSVVEEQYLNKLTSCPQP
LNETSYSKIALDGKTTISSTSEYERNRGERRSHKKFKPNVTRGRGSKRVRGKTSKKEPRA
SKAMLVTLRASQEEDDDADDFESDYEEESYHLAPEEVNKAPVFVPVGLRSPEPVSAQIEE
TMEELEITVNVPDVGCIAVVEHELPNTDVTTEEMKQEENLSVPFEMTTSEHIQDEPGTND
GSTEAAITLLTMGDLVLQSEISSEQGDVGVCIIPHVHSKDKSHIPSSLDNVNHKIVHECQ
ELSSPVITTSPASFEENKIVLEEQSSREEISLMEKVKENATPTRNTISKVTSNLRIRSRL
AKPKPNLEKTLGTNRLDDYQEVSSLCVTKGAEMETQRETEKNASKATELENKNLGPVTTA
ENKDQSKLACVHGIKGTSISSEVNLTERNENQEESSQEVHMLSVAPVASSETGPCTLGLD
RGLGENSVEEPQIKDSKGDSVLTLPVPEYTPTSIPEVQQENIINPQDLTVNLVANVPQDG
EDEQAFILTLVEIPANAVEEFTDATAQFMPNPLLPAPILVKSVNTEERGDMSICLPATSV
GQDAMGLSISGRDNSKKPPDNLDLVSRKRFQCRLDKNDHIPPAKKRSLTLRDDCQEYTTE
VHSKELTNVFEETGESHKGQDIFLTSGSTLTTPEPQRQQVEAAFQSRGSRSPDACMDKNV
PQLPQDEMIVSDKEERTDAAPKSQQMDSRTSSSKASLSRPGRRPLGFLSLICSKNSLESD
EPMQVHSKKRLKPLIPGLRKKLKRSNPFNESQEKNRESSDLLPSPSVITTQSENISSSAT
QVSCDQPLLKEGYKSAQKRAPQGEATTVSEYFFNDIFIEVDETE
Sequence length 2624
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
77
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Deafness Likely pathogenic rs1187285510 RCV001003513
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity; Benign; Likely benign rs112823079, rs34588160, rs12187098 RCV005920876
RCV005898901
RCV005898881
BDP1-related disorder Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs555865529, rs187541686, rs75859503, rs377548231, rs191127702, rs200843292, rs201849167, rs200098601, rs73775118, rs199840190, rs535538241, rs200080464, rs191238264, rs200647339, rs201172860
View all (13 more)
RCV004758189
RCV003910932
RCV003921283
RCV003968421
RCV003941078
RCV003948715
RCV004758193
RCV004758194
RCV003956368
RCV004758195
RCV003913370
RCV003956364
RCV003911004
RCV003919055
RCV004758276
RCV003921651
RCV003967306
RCV003911847
RCV003924226
RCV003942279
RCV003981806
RCV003962257
RCV003962799
RCV003905621
RCV003938202
RCV003918313
RCV003975359
RCV003936249
Cervical cancer Benign rs12187098 RCV005898885
Cholangiocarcinoma Benign rs12187098 RCV005898892
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36305848
Carcinogenesis Associate 36305848
Lymphoma Non Hodgkin Associate 36305848
Neoplasms Associate 17505538, 18700021, 36305848
Neuroblastoma Associate 36305848
Ovarian Neoplasms Associate 36305848