Gene
bptf
- ID
- ZDB-GENE-030131-3200
- Name
- bromodomain PHD finger transcription factor
- Symbol
- bptf Nomenclature History
- Previous Names
-
- fc30e02
- fc32a05
- wu:fb71f11
- wu:fc30e02
- wu:fc32a05
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and histone octamer slider activity. Acts upstream of or within cranial skeletal system development; neural plate anterior/posterior regionalization; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of NURF complex. Is expressed in head. Orthologous to human BPTF (bromodomain PHD finger transcription factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | Alliance | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 617755 |
| {Kaposi sarcoma, susceptibility to} | 148000 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018359 | Bromodomain, conserved site |
| Conserved_site | IPR019786 | Zinc finger, PHD-type, conserved site |
| Domain | IPR001487 | Bromodomain |
| Domain | IPR001510 | Zinc finger, PARP-type |
| Domain | IPR001965 | Zinc finger, PHD-type |
| Domain | IPR018501 | DDT domain |
| Domain | IPR019787 | Zinc finger, PHD-finger |
| Domain | IPR028941 | WHIM2 domain |
| Family | IPR038028 | Nucleosome-remodeling factor subunit BPTF |
| Homologous_superfamily | IPR011011 | Zinc finger, FYVE/PHD-type |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Homologous_superfamily | IPR036427 | Bromodomain-like superfamily |
Domain Details Per Protein
| Protein | Length | Bromodomain | Bromodomain, conserved site | Bromodomain-like superfamily | DDT domain | Nucleosome-remodeling factor subunit BPTF | WHIM2 domain | Zinc finger, FYVE/PHD-type | Zinc finger, PARP-type | Zinc finger, PHD-finger | Zinc finger, PHD-type | Zinc finger, PHD-type, conserved site | Zinc finger, RING/FYVE/PHD-type |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3AQI5
|
2900 | ||||||||||||
|
UniProtKB:E7F366
|
2899 | ||||||||||||
|
UniProtKB:A0A8M6Z5Q1
|
2843 | ||||||||||||
|
UniProtKB:A0A8M3AXZ5
|
2873 | ||||||||||||
|
UniProtKB:A0A8M6YWR8
|
2816 | ||||||||||||
|
UniProtKB:A0A8M3AQV1
|
2899 | ||||||||||||
|
UniProtKB:A0A8M3B0X4
|
2891 | ||||||||||||
|
UniProtKB:A0A8M2BJ03
|
2885 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance