Gene
hephl1a
- ID
- ZDB-GENE-070801-4
- Name
- hephaestin-like 1a
- Symbol
- hephl1a Nomenclature History
- Previous Names
-
- hephl1
- zgc:165649
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable ferroxidase activity. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in integument. Orthologous to human HEPHL1 (hephaestin like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa42469 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ?Abnormal hair, joint laxity, and developmental delay | 261990 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Binding_site | IPR002355 | Multicopper oxidase, copper-binding site |
| Conserved_site | IPR033138 | Multicopper oxidases, conserved site |
| Domain | IPR011706 | Multicopper oxidase, C-terminal |
| Domain | IPR011707 | Multicopper oxidase-like, N-terminal |
| Family | IPR024715 | Coagulation factor 5/8-like |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Coagulation factor 5/8-like | Cupredoxin | Multicopper oxidase | Multicopper oxidase, copper-binding site | Multicopper oxidase, C-terminal | Multicopper oxidase-like, N-terminal | Multicopper oxidases, conserved site |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:X1WD76 | InterPro | 1094 | |||||||
| UniProtKB:A0A8M3APH1 | InterPro | 1082 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hephl1a-201
(1)
|
Ensembl | 1,974 nt | ||
| mRNA |
hephl1a-203
(1)
|
Ensembl | 5,525 nt | ||
| mRNA |
hephl1a-204
(1)
|
Ensembl | 3,783 nt | ||
| ncRNA |
hephl1a-002
(1)
|
Ensembl | 684 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 | CH73-203K13 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-371N23 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:165649 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001328065 (1) | 3505 nt | ||
| Genomic | GenBank:CU896646 (2) | 82708 nt | ||
| Polypeptide | UniProtKB:X1WD76 (1) | 1094 aa |
- Guo, J., Zou, Z., Dou, X., Zhao, X., Wang, Y., Wei, L., Pi, Y., Wang, Y., He, C., Guo, S. (2024) Zebrafish Mbd5 binds to RNA m5C and regulates histone deubiquitylation and gene expression in development metabolism and behavior. Nucleic acids research. 52(8):4257-4275
- Cokus, S.J., De La Torre, M., Medina, E.F., Rasmussen, J.P., Ramirez-Gutierrez, J., Sagasti, A., Wang, F. (2019) Tissue-Specific Transcriptomes Reveal Gene Expression Trajectories in Two Maturing Skin Epithelial Layers in Zebrafish Embryos. G3 (Bethesda). 9(10):3439-3452
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Long, Y., Yan, J., Song, G., Li, X., Li, X., Li, Q., Cui, Z. (2015) Transcriptional events co-regulated by hypoxia and cold stresses in Zebrafish larvae. BMC Genomics. 16:385
- Lambert, M.J., Olsen, K.G., Cooper, C.D. (2014) Gene duplication followed by exon structure divergence substitutes for alternative splicing in zebrafish. Gene. 546(2):271-6
- Bond, S.R., Wang, N., Leybaert, L., and Naus, C.C. (2012) Pannexin 1 Ohnologs in the Teleost Lineage. The Journal of membrane biology. 245(8):483-493
- Steinke, D., Salzburger, W., Braasch, I., and Meyer, A. (2006) Many genes in fish have species-specific asymmetric rates of molecular evolution. BMC Genomics. 7(1):20
- 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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