Gene
pms1
- ID
- ZDB-GENE-030616-528
- Name
- PMS1 homolog 1, mismatch repair system component
- Symbol
- pms1 Nomenclature History
- Previous Names
-
- si:dz164h20.2
- si:dz72b14.2
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to enable ATP hydrolysis activity. Predicted to be involved in mismatch repair. Predicted to act upstream of or within DNA damage response. Predicted to be located in nucleus. Predicted to be part of MutLalpha complex. Human ortholog(s) of this gene implicated in Lynch syndrome; dermatomyositis; pancreatic ductal carcinoma; and polymyositis. Orthologous to human PMS1 (PMS1 homolog 1, mismatch repair system component).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66424 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR014762 | DNA mismatch repair, conserved site |
| Domain | IPR009071 | High mobility group box domain |
| Domain | IPR013507 | DNA mismatch repair protein, S5 domain 2-like |
| Family | IPR002099 | DNA mismatch repair protein MutL/Mlh/PMS |
| Family | IPR038973 | DNA mismatch repair protein MutL/Mlh/Pms-like |
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Domain Details Per Protein
| Protein | Additional Resources | Length | DNA mismatch repair, conserved site | DNA mismatch repair protein MutL/Mlh/PMS | DNA mismatch repair protein MutL/Mlh/Pms-like | DNA mismatch repair protein, S5 domain 2-like | High mobility group box domain | High mobility group box domain superfamily | Histidine kinase/HSP90-like ATPase superfamily | Ribosomal protein uS5 domain 2-type superfamily | Small ribosomal subunit protein uS5 domain 2-type fold, subgroup |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q8JFR9 | InterPro | 896 | |||||||||
| UniProtKB:A0AB32TWV9 | InterPro | 896 | |||||||||
| UniProtKB:A0AB32TXT7 | InterPro | 736 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | ottdart00000001858 (1) | Havana | 117 nt | ||
| mRNA | ottdart00000003997 (1) | Havana | 659 nt | ||
| mRNA |
pms1-201
(1)
|
Ensembl | 2,929 nt | ||
| mRNA |
pms1-202
(1)
|
Ensembl | 2,862 nt | ||
| mRNA |
pms1-203
(1)
|
Ensembl | 2,649 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 | CH211-3O3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-204G5 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-72B14 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-164H20 | ||
| Contained in | PAC | BUSM1-211O13 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:66424 | ZFIN Curated Data | |
| Has Artifact | cDNA | MGC:165433 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201319 (1) | 2862 nt | ||
| Genomic | GenBank:BX323586 (1) | 171172 nt | ||
| Polypeptide | UniProtKB:A0AB32TWV9 (1) | 896 aa |
- Meng, Z.Z., Liu, W., Xia, Y., Yin, H.M., Zhang, C.Y., Su, D., Yan, L.F., Gu, A.H., Zhou, Y. (2017) The pro-inflammatory signalling regulator Stat4 promotes vasculogenesis of great vessels derived from endothelial precursors. Nature communications. 8:14640
- 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
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
- 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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