Gene
inpp5kb
- ID
- ZDB-GENE-100408-3
- Name
- inositol polyphosphate-5-phosphatase Kb
- Symbol
- inpp5kb Nomenclature History
- Previous Names
-
- inpp5k
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable phosphatase activity. Acts upstream of or within camera-type eye development and skeletal muscle fiber development. Predicted to be active in several cellular components, including endoplasmic reticulum; neuron projection; and ruffle. Is expressed in brain; head; muscle; post-vent region; and visual system. Human ortholog(s) of this gene implicated in congenital muscular dystrophy with cataracts and intellectual disability. Orthologous to human INPP5K (inositol polyphosphate-5-phosphatase K).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 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
No data available
Targeting Reagent | Created Alleles | Citations |
---|---|---|
MO1-inpp5kb | N/A | Osborn et al., 2017 |
MO2-inpp5kb | N/A | Osborn et al., 2017 |
MO4-inpp5kb | N/A | Osborn et al., 2017 |
MO5-inpp5kb | N/A | (2) |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital muscular dystrophy with cataracts and intellectual disability | Alliance | Muscular dystrophy, congenital, with cataracts and intellectual disability | 617404 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Endonuclease/exonuclease/phosphatase superfamily | Inositol 5-phosphatase | Inositol polyphosphate-related phosphatase | SKICH domain |
---|---|---|---|---|---|---|
UniProtKB:A0A8M2B261 | InterPro | 526 | ||||
UniProtKB:A0A8M2B205 | InterPro | 517 | ||||
UniProtKB:A0A8N7UTA0 | InterPro | 468 | ||||
UniProtKB:A0A8M9QL16 | InterPro | 517 | ||||
UniProtKB:A0A2R8QKI3 | InterPro | 526 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
antisense |
ottdart00000059909
(1)
|
Ensembl | 953 nt | ||
mRNA |
inpp5kb-201
(1)
|
Ensembl | 3,508 nt | ||
mRNA |
inpp5kb-202
(1)
|
Ensembl | 1,467 nt | ||
mRNA |
inpp5kb-203
(1)
|
Ensembl | 3,682 nt | ||
mRNA |
inpp5kb-204
(1)
|
Ensembl | 3,535 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 | CH73-280O12 | ZFIN Curated Data | |
Contained in | BAC | CH211-213E17 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_068223960 (1) | 2506 nt | ||
Genomic | GenBank:CR925812 (1) | 207061 nt | ||
Polypeptide | UniProtKB:A0A2R8QKI3 (1) | 526 aa |
- Shukla, D., Gural, B.M., Cauley, E.S., Battula, N., Mowla, S., Karas, B.F., Roberts, L.E., Cavallo, L., Turkalj, L., Moody, S.A., Swan, L.E., Manzini, M.C. (2023) Duplicated zebrafish (Danio rerio) inositol phosphatases inpp5ka and inpp5kb diverged in expression pattern and function. Development genes and evolution. 233(1):25-34
- Hathazi, D., Cox, D., D'Amico, A., Tasca, G., Charlton, R., Carlier, R.Y., Baumann, J., Kollipara, L., Zahedi, R.P., Feldmann, I., Deleuze, J.F., Torella, A., Cohn, R., Robinson, E., Ricci, F., Jungbluth, H., Fattori, F., Boland, A., O'Connor, E., Horvath, R., Barresi, R., Lochmüller, H., Urtizberea, A., Jacquemont, M.L., Nelson, I., Swan, L., Bonne, G., Roos, A. (2021) INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain : a journal of neurology. 144(8):2427-2442
- Osborn, D.P., Pond, H.L., Mazaheri, N., Dejardin, J., Munn, C.J., Mushref, K., Cauley, E.S., Moroni, I., Pasanisi, M.B., Sellars, E.A., Hill, R.S., Partlow, J.N., Willaert, R.K., Bharj, J., Malamiri, R.A., Galehdari, H., Shariati, G., Maroofian, R., Mora, M., Swan, L.E., Voit, T., Conti, F.J., Jamshidi, Y., Manzini, M.C. (2017) Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy. American journal of human genetics. 100(3):537-545
- Tzima, E., Serifi, I., Tsikari, I., Alzualde, A., Leonardos, I., Papamarcaki, T. (2017) Transcriptional and Behavioral Responses of Zebrafish Larvae to Microcystin-LR Exposure. International Journal of Molecular Sciences. 18(2)
- Wiessner, M., Roos, A., Munn, C.J., Viswanathan, R., Whyte, T., Cox, D., Schoser, B., Sewry, C., Roper, H., Phadke, R., Marini Bettolo, C., Barresi, R., Charlton, R., Bönnemann, C.G., Abath Neto, O., Reed, U.C., Zanoteli, E., Araújo Martins Moreno, C., Ertl-Wagner, B., Stucka, R., De Goede, C., Borges da Silva, T., Hathazi, D., Dell'Aica, M., Zahedi, R.P., Thiele, S., Müller, J., Kingston, H., Müller, S., Curtis, E., Walter, M.C., Strom, T.M., Straub, V., Bushby, K., Muntoni, F., Swan, L.E., Lochmüller, H., Senderek, J. (2017) Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American journal of human genetics. 100(3):523-536
- Yousaf, S., Sheikh, S.A., Riazuddin, S., Waryah, A.M., Ahmed, Z.M. (2017) INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. Clinical genetics. 93(3):682-686
- 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
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