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BPTF - bromodomain PHD finger transcription factor Gene

Also Known as FAC1; FALZ; NEDDFL; NURF301

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2186

About BPTF

Cytogenetic location: 17q24.2 Genomic coordinates (GRCh38): 17:67,825,503-67,984,378 (from NCBI)

This gene has 18 transcripts (splice variants), 287 orthologues, 11 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 8.1) and 25 other tissues.

Summary

This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

BPTF Products (2)

mRNA	Protein	Name
NM_004459.7	NP_004450.3	nucleosome-remodeling factor subunit BPTF isoform 2
NM_182641.4	NP_872579.2	nucleosome-remodeling factor subunit BPTF isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
contributes to ATP-dependent activity, acting on DNA	IDA IDA: Inferred from direct assay	14609955	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14609955	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	10403843	GOA
enables sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	10575013	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	14609955	GOA
involved in chromatin remodeling	IDA IDA: Inferred from direct assay	14609955	GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10727212	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14609955	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	14609955	GOA
involved in regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	10575013	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of ATPase complex	IDA IDA: Inferred from direct assay	14609955	GOA
part of NURF complex	IDA IDA: Inferred from direct assay	20850016	GOA
part of NURF complex	IPI IPI: Inferred from physical interaction	14609955	GOA
located in chromatin	IDA IDA: Inferred from direct assay	27141965	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10403843	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

BPTF Protein Structure

DDT

WHIM1

PHD

Bromodomain

0
500
1000
1500
2000
2500
3046 a.a.

Protein Preferred Names	Protein Names
nucleosome-remodeling factor subunit BPTF	bromodomain and PHD domain transcription factor

BPTF Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	BPTF	Q12830	SMARCA1	Homo sapiens	P28370	Anti Tag CoIP	14609955
Intra	BPTF	Q12830	H4C16	Homo sapiens	P62805	X-Ray Diffraction	21596426
Intra	BPTF	Q12830	SMARCA5	Homo sapiens	O60264	Anti Bait CoIP	22729083

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	NEDDFL
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Non-Specific Syndromic Intellectual Disability	Complex Neurodevelopmental Disorder
17q24.2 Microdeletion Syndrome	Del(17)(Q24)
Lacrimal Gland Carcinoma	Lacrimal Gland Cancer Carcinoma Of The Lacrimal Gland Malignant Neoplasm Of Lacrimal Gland Malignant Tumour Of Lacrimal Gland Neoplasm Of Lacrimal Gland Tumor Of The Lacrimal Gland Malignant Tumor Of Lacrimal Gland
Lacrimal Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Lacrimal Gland
Lacrimal Gland Adenocarcinoma	Adenocarcinoma Of Lacrimal Gland
Lacrimal System Cancer	Neoplasm Of Lacrimal System Lacrimal System Neoplasm Tumor Of The Lacrimal System
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Hepatic Venoocclusive Disease With Immunodeficiency	VODI Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome Hepatic Veno-Occlusive Disease With Immunodeficiency Familial Veno-Occlusive Disease With Immunodeficiency Veno-Occlusive Disease And Immunodeficiency Syndrome Vodi Syndrome Vodi - [Veno-Occlusive Disease Immunodeficiency] Syndrome
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (17)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-132889	BPTF-IN-BZ1	Inhibitor	98.31%	Unkown
HY-141703A	DC-BPi-11 hydrochloride	Inhibitor	97.36%	Unkown
HY-112398	GSK1379725A		98.06%	Unkown
HY-114205A	TP-238 hydrochloride	Inhibitor	≥99.0%	Unkown
HY-150211	DC-BPi-03	Inhibitor	99.77%	Unkown
HY-126299	NVS-BPTF-1	Inhibitor	99.6%	Unkown
HY-111575	DCB29	Inhibitor	/	Unkown
HY-114205	TP-238	Inhibitor	/	Unkown
HY-115663	C620-0696		/	Unkown
HY-141703	DC-BPi-11	Inhibitor	/	Unkown
HY-145431	(S)-GSK1379725A	Inhibitor	/	Unkown
HY-155891	BET-IN-18	Inhibitor	/	Unkown
HY-160286	BI-7190	Inhibitor	/	Unkown
HY-178697	DC-BPi-07	Inhibitor	/	Unkown
HY-RS01586	BPTF Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16684	Bptf Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23119	Bptf Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	BPTF	MGD	MGI:2444008
Bos taurus	BPTF	VGNC	VGNC:26550
Rattus norvegicus	BPTF	RGD	RGD:1307039
Macaca mulatta	BPTF	VGNC	VGNC:70464
Felis catus	BPTF	VGNC	VGNC:60161
Canis familiaris	BPTF	VGNC	VGNC:38513
Others	BPTF	NCBI