Gene
nfixb
- ID
- ZDB-GENE-060421-5000
- Name
- nuclear factor I/Xb
- Symbol
- nfixb Nomenclature History
- Previous Names
-
- zgc:136878
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within DNA replication and regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in dorsal telencephalon; midbrain; muscle; and telencephalon. Human ortholog(s) of this gene implicated in Marshall-Smith syndrome and Sotos syndrome 2. Orthologous to human NFIX (nuclear factor I X).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa10725 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa10966 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa26010 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa40016 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Marshall-Smith syndrome | Alliance | Marshall-Smith syndrome | 602535 |
| Sotos syndrome 2 | Alliance | Malan syndrome | 614753 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019739 | CTF transcription factor/nuclear factor 1, conserved site |
| Domain | IPR003619 | MAD homology 1, Dwarfin-type |
| Domain | IPR019548 | CTF transcription factor/nuclear factor 1, N-terminal |
| Domain | IPR020604 | CTF transcription factor/nuclear factor 1, DNA-binding domain |
| Family | IPR000647 | CTF transcription factor/nuclear factor 1 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | CTF transcription factor/nuclear factor 1 | CTF transcription factor/nuclear factor 1, conserved site | CTF transcription factor/nuclear factor 1, DNA-binding domain | CTF transcription factor/nuclear factor 1, N-terminal | MAD homology 1, Dwarfin-type |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B860 | InterPro | 562 | |||||
| UniProtKB:Q1RLS5 | InterPro | 440 | |||||
| UniProtKB:A0A8M2BAY5 | InterPro | 528 | |||||
| UniProtKB:A0A8M3AXV2 | InterPro | 530 | |||||
| UniProtKB:A0A8M3AQD9 | InterPro | 513 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH73-85C11 | ZFIN Curated Data | |
| Contained in | BAC | CH73-360N3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-192K19 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136878 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001040248 (1) | 2893 nt | ||
| Genomic | GenBank:CR788308 (2) | 193615 nt | ||
| Polypeptide | UniProtKB:A0AB32TJX9 (1) | 581 aa |
- Braasch, I., Gehrke, A.R., Smith, J.J., Kawasaki, K., Manousaki, T., Pasquier, J., Amores, A., Desvignes, T., Batzel, P., Catchen, J., Berlin, A.M., Campbell, M.S., Barrell, D., Martin, K.J., Mulley, J.F., Ravi, V., Lee, A.P., Nakamura, T., Chalopin, D., Fan, S., Wcisel, D., Cañestro, C., Sydes, J., Beaudry, F.E., Sun, Y., Hertel, J., Beam, M.J., Fasold, M., Ishiyama, M., Johnson, J., Kehr, S., Lara, M., Letaw, J.H., Litman, G.W., Litman, R.T., Mikami, M., Ota, T., Saha, N.R., Williams, L., Stadler, P.F., Wang, H., Taylor, J.S., Fontenot, Q., Ferrara, A., Searle, S.M., Aken, B., Yandell, M., Schneider, I., Yoder, J.A., Volff, J.N., Meyer, A., Amemiya, C.T., Venkatesh, B., Holland, P.W., Guiguen, Y., Bobe, J., Shubin, N.H., Di Palma, F., Alföldi, J., Lindblad-Toh, K., Postlethwait, J.H. (2016) The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons. Nature Genetics. 48(4):427-37
- Kaaij, L.J., Mokry, M., Zhou, M., Musheev, M., Geeven, G., Melquiond, A.S., de Jesus Domingues, A.M., de Laat, W., Niehrs, C., Smith, A.D., Ketting, R.F. (2016) Enhancers reside in a unique epigenetic environment during early zebrafish development. Genome biology. 17:146
- Diotel, N., Viales, R.R., Armant, O., März, M., Ferg, M., Rastegar, S., Strähle, U. (2015) Comprehensive expression map of transcription regulators in the adult zebrafish telencephalon reveals distinct neurogenic niches. The Journal of comparative neurology. 523(8):1202-21
- 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
- Armant, O., März, M., Schmidt, R., Ferg, M., Diotel, N., Ertzer, R., Bryne, J.C., Yang, L., Baader, I., Reischl, M., Legradi, J., Mikut, R., Stemple, D., Ijcken, W.V., van der Sloot, A., Lenhard, B., Strähle, U., and Rastegar, S. (2013) Genome-wide, whole mount in situ analysis of transcriptional regulators in zebrafish embryos. Developmental Biology. 380(2):351-62
- Pistocchi, A., Gaudenzi, G., Foglia, E., Monteverde, S., Moreno-Fortuny, A., Pianca, A., Cossu, G., Cotelli, F., and Messina, G. (2013) Conserved and divergent functions of Nfix in skeletal muscle development during vertebrate evolution. Development (Cambridge, England). 140(7):1528-1536
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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