Gene
heatr1
- ID
- ZDB-GENE-030131-6378
- Name
- HEAT repeat containing 1
- Symbol
- heatr1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to enable snoRNA binding activity. Acts upstream of or within maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); negative regulation of apoptotic process; and regulation of RNA stability. Predicted to be located in nucleolus. Predicted to be part of 90S preribosome; small-subunit processome; and t-UTP complex. Is expressed in eye; forebrain; immature eye; midbrain; and midbrain hindbrain boundary. Human ortholog(s) of this gene implicated in pancreatic ductal carcinoma. Orthologous to human HEATR1 (HEAT repeat containing 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Azuma et al., 2006
- 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 |
|---|---|---|---|---|---|
| hi932Tg | Transgenic insertion | Intron 3 | Unknown | DNA | |
| hi3028Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| sa10451 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa22040 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa27897 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31858 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35219 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| y75 | Allele with one deletion | Exon 2 | Unknown | TMP |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-heatr1 | Buono et al., 2021 | |
| CRISPR2-heatr1 | Buono et al., 2021 | |
| MO1-heatr1 | N/A | Azuma et al., 2006 |
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Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR012954 | BP28, C-terminal domain |
| Domain | IPR022125 | U3 small nucleolar RNA-associated protein 10, N-terminal |
| Domain | IPR056473 | Utp10/HEAT1, HEAT-repeats domain |
| Family | IPR040191 | U3 small nucleolar RNA-associated protein 10 |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Armadillo-like helical | Armadillo-type fold | BP28, C-terminal domain | U3 small nucleolar RNA-associated protein 10 | U3 small nucleolar RNA-associated protein 10, N-terminal | Utp10/HEAT1, HEAT-repeats domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q7SY48 | InterPro | 2159 | ||||||
| UniProtKB:A0A8M3B4F6 | InterPro | 2160 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
heatr1-201
(1)
|
Ensembl | 6,867 nt |
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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 | CH73-140M10 | ZFIN Curated Data | |
| Contained in | BAC | CH211-146F4 | ||
| Encodes | EST | fi69e12 | ||
| Encodes | cDNA | MGC:63510 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_199900 (1) | 6884 nt | ||
| Genomic | GenBank:AL732629 (1) | 164474 nt | ||
| Polypeptide | UniProtKB:A0A8M3B4F6 (1) | 2160 aa |
- Buono, L., Corbacho, J., Naranjo, S., Almuedo-Castillo, M., Moreno-Marmol, T., de la Cerda, B., Sanbria-Reinoso, E., Polvillo, R., Díaz-Corrales, F.J., Bogdanovic, O., Bovolenta, P., Martínez-Morales, J.R. (2021) Analysis of gene network bifurcation during optic cup morphogenesis in zebrafish. Nature communications. 12:3866
- Aman, A., Nguyen, M., and Piotrowski, T. (2011) Wnt/β-catenin dependent cell proliferation underlies segmented lateral line morphogenesis. Developmental Biology. 349(2):470-482
- Danilova, N., Kumagai, A., and Lin, J. (2010) p53 Upregulation Is a Frequent Response to Deficiency of Cell-Essential Genes. PLoS One. 5(12):e15938
- Parant, J.M., George, S.A., Pryor, R., Wittwer, C.T., and Yost, H.J. (2009) A rapid and efficient method of genotyping zebrafish mutants. Developmental Dynamics : an official publication of the American Association of Anatomists. 238(12):3168-3174
- Azuma, M., Toyama, R., Laver, E., and Dawid, I.B. (2006) Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system. The Journal of biological chemistry. 281(19):13309-13316
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
- 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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