Gene
hpdl
- ID
- ZDB-GENE-071004-50
- Name
- 4-hydroxyphenylpyruvate dioxygenase-like
- Symbol
- hpdl Nomenclature History
- Previous Names
-
- fj39d06
- wu:fj39d06
- zgc:171978 (1)
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 83. Orthologous to human HPDL (4-hydroxyphenylpyruvate dioxygenase like).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 83 | Alliance | Spastic paraplegia 83, autosomal recessive | 619027 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 619026 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004360 | Glyoxalase/fosfomycin resistance/dioxygenase domain |
| Domain | IPR041735 | 4-hydroxyphenylpyruvate dioxygenase, C-terminal |
| Domain | IPR041736 | 4-hydroxyphenylpyruvate dioxygenase, N-terminal |
| Family | IPR005956 | 4-hydroxyphenylpyruvate dioxygenase |
| Homologous_superfamily | IPR029068 | Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase |
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Domain Details Per Protein
| Protein | Additional Resources | Length | 4-hydroxyphenylpyruvate dioxygenase | 4-hydroxyphenylpyruvate dioxygenase, C-terminal | 4-hydroxyphenylpyruvate dioxygenase, N-terminal | Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase | Glyoxalase/fosfomycin resistance/dioxygenase domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A7MC29 | InterPro | 420 | |||||
| UniProtKB:E7FH29 | InterPro | 420 |
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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 | DKEY-68E16 | ZFIN Curated Data | |
| Encodes | EST | fj39d06 | ||
| Encodes | cDNA | MGC:171978 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001109708 (1) | 2098 nt | ||
| Genomic | GenBank:AL953868 (1) | 182445 nt | ||
| Polypeptide | UniProtKB:A7MC29 (1) | 420 aa |
- Wiessner, M., Maroofian, R., Ni, M.Y., Pedroni, A., Müller, J.S., Stucka, R., Beetz, C., Efthymiou, S., Santorelli, F.M., Alfares, A.A., Zhu, C., Uhrova Meszarosova, A., Alehabib, E., Bakhtiari, S., Janecke, A.R., Otero, M.G., Chen, J.Y.H., Peterson, J.T., Strom, T.M., De Jonghe, P., Deconinck, T., De Ridder, W., De Winter, J., Pasquariello, R., Ricca, I., Alfadhel, M., van de Warrenburg, B.P., Portier, R., Bergmann, C., Ghasemi Firouzabadi, S., Jin, S.C., Bilguvar, K., Hamed, S., Abdelhameed, M., Haridy, N.A., Maqbool, S., Rahman, F., Anwar, N., Carmichael, J., Pagnamenta, A., Wood, N.W., Tran Mau-Them, F., Haack, T., Genomics England Research Consortium, PREPARE network, Di Rocco, M., Ceccherini, I., Iacomino, M., Zara, F., Salpietro, V., Scala, M., Rusmini, M., Xu, Y., Wang, Y., Suzuki, Y., Koh, K., Nan, H., Ishiura, H., Tsuji, S., Lambert, L., Schmitt, E., Lacaze, E., Küpper, H., Dredge, D., Skraban, C., Goldstein, A., Willis, M.J.H., Grand, K., Graham, J.M., Lewis, R.A., Millan, F., Duman, Ö., Dündar, N., Uyanik, G., Schöls, L., Nürnberg, P., Nürnberg, G., Catala Bordes, A., Seeman, P., Kuchar, M., Darvish, H., Rebelo, A., Bouçanova, F., Medard, J.J., Chrast, R., Auer-Grumbach, M., Alkuraya, F.S., Shamseldin, H., Al Tala, S., Rezazadeh Varaghchi, J., Najafi, M., Deschner, S., Gläser, D., Hüttel, W., Kruer, M.C., Kamsteeg, E.J., Takiyama, Y., Züchner, S., Baets, J., Synofzik, M., Schüle, R., Horvath, R., Houlden, H., Bartesaghi, L., Lee, H.J., Ampatzis, K., Pierson, T.M., Senderek, J. (2021) Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain : a journal of neurology. 144(5):1422-1434
- 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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