Gene
pmela
- ID
- ZDB-GENE-030131-9818
- Name
- premelanosome protein a
- Symbol
- pmela Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including amyloid fibril formation; melanocyte differentiation; and melanosome organization. Predicted to be located in membrane. Predicted to be active in melanosome and plasma membrane. Is expressed in several structures, including eye; hypodermis; immature eye; notochord; and pigment cell. Orthologous to human PMEL (premelanosome protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 18 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb397 (15 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 8 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-pmela | Zhang et al., 2018 | |
CRISPR2-pmela | (2) | |
CRISPR3-pmela | Hodges et al., 2023 | |
CRISPR4-pmela | Hodges et al., 2023 | |
MO1-pmela | N/A | (2) |
MO2-pmela | N/A | (2) |
MO3-pmela | N/A | Yang et al., 2018 |
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Human Disease
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Immunoglobulin-like fold | PKAT, KLD domain | PKD- and KLD-Associated Transmembrane | PKD/Chitinase domain | PKD domain | PKD domain superfamily |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M9QCX8 | InterPro | 803 | ||||||
UniProtKB:A0A8M9QLH3 | InterPro | 781 | ||||||
UniProtKB:Q1ECY0 | InterPro | 825 |
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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 | CH73-290L19 | ZFIN Curated Data | |
Encodes | EST | cb397 | Thisse et al., 2001 | |
Encodes | EST | fc11g11 | ||
Encodes | EST | fj24g11 | ZFIN Curated Data | |
Encodes | cDNA | MGC:136622 | ZFIN Curated Data | |
Encodes | cDNA | MGC:158124 | ZFIN Curated Data | |
Encodes | cDNA | MGC:194959 | ZFIN Curated Data | |
Encodes | cDNA | MGC:194963 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001045330 (1) | 2708 nt | ||
Genomic | GenBank:CU695201 (2) | 29701 nt | ||
Polypeptide | UniProtKB:Q1ECY0 (1) | 825 aa |
- Wusiman, Z., Zhang, A.M., Zhang, S.S., Zhao, P.P., Kang, Y.T., Zhang, Y., Li, Z.J., Huo, S.X. (2025) Galangin ameliorates PTU-induced vitiligo in zebrafish and B16F10 cells by increasing melanogenesis through activation of the p38/JNK MAPK pathway. Frontiers in pharmacology. 16:15210971521097
- Wang, H., Wu, Y., Bassetti, J.A., Wang, Z., Oza, V.S., Rangu, S.A., McGivern, B., Peng, S., Liang, L., Huang, S., Gong, Z., Xu, Z., Lin, Z. (2024) A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts. The British journal of dermatology. 191(5):805-815
- Hodges, E.D., Chrystal, P.W., Footz, T., Doucette, L.P., Noel, N.C.L., Li, Z., Walter, M.A., Allison, W.T. (2023) Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma. International Journal of Molecular Sciences. 24(19):
- Katkat, E., Demirci, Y., Heger, G., Karagulle, D., Papatheodorou, I., Brazma, A., Ozhan, G. (2023) Canonical Wnt and TGF-β/BMP signaling enhance melanocyte regeneration but suppress invasiveness, migration, and proliferation of melanoma cells. Frontiers in cell and developmental biology. 11:12979101297910
- Lumaquin-Yin, D., Montal, E., Johns, E., Baggiolini, A., Huang, T.H., Ma, Y., LaPlante, C., Suresh, S., Studer, L., White, R.M. (2023) Lipid droplets are a metabolic vulnerability in melanoma. Nature communications. 14:31923192
- Luo, L., Jia, W., Zhang, Y., Guo, Y., Zhu, J., Li, C. (2023) Proprotein Convertase Furin Regulates Melanogenesis via the Notch Signaling Pathway. Discovery medicine... 35:144156144-156
- Vöcking, O., Famulski, J.K. (2023) A temporal single cell transcriptome atlas of zebrafish anterior segment development. Scientific Reports. 13:56565656
- Weiss, J.M., Hunter, M.V., Cruz, N.M., Baggiolini, A., Tagore, M., Ma, Y., Misale, S., Marasco, M., Simon-Vermot, T., Campbell, N.R., Newell, F., Wilmott, J.S., Johansson, P.A., Thompson, J.F., Long, G.V., Pearson, J.V., Mann, G.J., Scolyer, R.A., Waddell, N., Montal, E.D., Huang, T.H., Jonsson, P., Donoghue, M.T.A., Harris, C.C., Taylor, B.S., Xu, T., Chaligné, R., Shliaha, P.V., Hendrickson, R., Jungbluth, A.A., Lezcano, C., Koche, R., Studer, L., Ariyan, C.E., Solit, D.B., Wolchok, J.D., Merghoub, T., Rosen, N., Hayward, N.K., White, R.M. (2022) Anatomic position determines oncogenic specificity in melanoma. Nature. 604(7905):354-361
- Cechmanek, P.B., Hehr, C.L., McFarlane, S. (2021) Retinal Pigment Epithelium and Neural Retinal Progenitors Interact Via Semaphorin 6D to Facilitate Optic Cup Morphogenesis. eNeuro. 8(3):
- Eom, D.S., Patterson, L.B., Bostic, R.R., Parichy, D.M. (2021) Immunoglobulin superfamily receptor junctional adhesion molecule 3 (Jam3) requirement for melanophore survival and patterning during formation of zebrafish stripes. Developmental Biology. 476:314-327
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