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 and hematopoietic multipotent progenitor cell. Human ortholog(s) of this gene implicated in Kaposi's sarcoma; alcohol dependence; and neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa7544 | Allele with one point mutation | Unknown | Missense | ENU | |
| sa12837 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa13237 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa20010 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa20011 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20012 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33174 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa38389 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-bptf | Stankiewicz et al., 2017 | |
| MO1-bptf | N/A | Huang et al., 2013 |
| MO2-bptf | N/A | (2) |
| MO3-bptf | N/A | (2) |
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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 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 2900 | ||||||||||||
| UniProtKB:E7F366 | InterPro | 2899 | ||||||||||||
| UniProtKB:A0A8M6Z5Q1 | InterPro | 2843 | ||||||||||||
| UniProtKB:A0A8M3AXZ5 | InterPro | 2873 | ||||||||||||
| UniProtKB:A0A8M6YWR8 | InterPro | 2816 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_009299420 (1) | 10354 nt | ||
| Genomic | GenBank:BX085195 (2) | 227111 nt | ||
| Polypeptide | UniProtKB:A0A8M3AQI5 (1) | 2900 aa |
- Comparative Orthology
- Alliance
- Ding, Y., Wang, W., Ma, D., Liang, G., Kang, Z., Xue, Y., Zhang, Y., Wang, L., Heng, J., Zhang, Y., Liu, F. (2020) Smarca5 mediated epigenetic programming facilitates fetal HSPC development in vertebrates. Blood. 137(2):190-202
- Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C.R.D.C., Baratela, W.A.R., Acosta Guio, J.C., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Deciphering Developmental Disorders Study, Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y. (2017) Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. American journal of human genetics. 101(4):503-515
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Ma, Y., Liu, X., Liu, Z., Wei, S., Shang, H., Xue, Y., Cao, Y., Meng, A., Wang, Q. (2015) The Chromatin Remodeling Protein Bptf Promotes Posterior Neuroectodermal Fate by Enhancing Smad2-Activated wnt8a Expression. The Journal of neuroscience : the official journal of the Society for Neuroscience. 35:8493-506
- Huang, H.T., Kathrein, K.L., Barton, A., Gitlin, Z., Huang, Y.H., Ward, T.P., Hofmann, O., Dibiase, A., Song, A., Tyekucheva, S., Hide, W., Zhou, Y., and Zon, L.I. (2013) A network of epigenetic regulators guides developmental haematopoiesis in vivo. Nature cell biology. 15(12):1516-1525
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