Gene
dzip1l
- ID
- ZDB-GENE-051113-196
- Name
- DAZ interacting zinc finger protein 1-like
- Symbol
- dzip1l Nomenclature History
- Previous Names
-
- zgc:123017
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable metal ion binding activity. Acts upstream of or within cilium assembly. Predicted to be located in centriole. Predicted to be active in ciliary basal body and cytoplasm. Is expressed in olfactory placode and pronephric duct. Human ortholog(s) of this gene implicated in polycystic kidney disease 5. Orthologous to human DZIP1L (DAZ interacting zinc finger protein 1 like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Lu et al., 2017
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Lu et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-dzip1l | Lu et al., 2017 | |
| CRISPR2-dzip1l | Lu et al., 2017 | |
| MO1-dzip1l | N/A | Lu et al., 2017 |
| MO2-dzip1l | N/A | Lu et al., 2017 |
| MO3-dzip1l | N/A | Lu et al., 2017 |
| MO4-dzip1l | N/A | Lu et al., 2017 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| polycystic kidney disease 5 | Alliance | Polycystic kidney disease 5 | 617610 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cilium assembly protein DZIP1, N-terminal | DZIP and RILPL | Zinc finger C2H2-type |
|---|---|---|---|---|
|
UniProtKB:Q32PN7
|
756 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
dzip1l-201
(1)
|
Ensembl | 3,431 nt | ||
| mRNA |
dzip1l-202
(1)
|
Ensembl | 690 nt | ||
| mRNA |
dzip1l-203
(1)
|
Ensembl | 703 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 | CH73-68B9 | ZFIN Curated Data | |
| Contained in | BAC | CH73-114M5 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:123017 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001037227 (1) | 3431 nt | ||
| Genomic | GenBank:BX248396 (1) | 196673 nt | ||
| Polypeptide | UniProtKB:Q32PN7 (1) | 756 aa |
- Lu, H., Galeano, M.C.R., Ott, E., Kaeslin, G., Kausalya, P.J., Kramer, C., Ortiz-Brüchle, N., Hilger, N., Metzis, V., Hiersche, M., Tay, S.Y., Tunningley, R., Vij, S., Courtney, A.D., Whittle, B., Wühl, E., Vester, U., Hartleben, B., Neuber, S., Frank, V., Little, M.H., Epting, D., Papathanasiou, P., Perkins, A.C., Wright, G.D., Hunziker, W., Gee, H.Y., Otto, E.A., Zerres, K., Hildebrandt, F., Roy, S., Wicking, C., Bergmann, C. (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nature Genetics. 49:1025–1034
- 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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