Gene
abcc8
- ID
- ZDB-GENE-050517-22
- Name
- ATP-binding cassette, sub-family C (CFTR/MRP), member 8
- Symbol
- abcc8 Nomenclature History
- Previous Names
-
- zSur1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable ABC-type transporter activity. Acts upstream of or within cellular response to glucose stimulus. Predicted to be part of protein-containing complex. Predicted to be active in plasma membrane. Is expressed in diencephalon; forebrain; hindbrain; and midbrain. Used to study hyperinsulinemic hypoglycemia. Human ortholog(s) of this gene implicated in glucose metabolism disease (multiple) and hypertension. Orthologous to human ABCC8 (ATP binding cassette subfamily C member 8).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa13411 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa15863 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa38076 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa44308 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hyperinsulinemic hypoglycemia 1 | Alliance | Hyperinsulinemic hypoglycemia, familial, 1 | 256450 |
| leucine-sensitive hypoglycemia of infancy | Alliance | Hypoglycemia of infancy, leucine-sensitive | 240800 |
| transient neonatal diabetes mellitus | Alliance | Diabetes mellitus, transient neonatal 2 | 610374 |
| type 2 diabetes mellitus | Alliance | Diabetes mellitus, noninsulin-dependent | 125853 |
| Diabetes mellitus, permanent neonatal 3 | 618857 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hyperinsulinemic hypoglycemia | abcc8sa15863/sa15863 | standard conditions | Juliana et al., 2024 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017871 | ABC transporter-like, conserved site |
| Domain | IPR003439 | ABC transporter-like, ATP-binding domain |
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR011527 | ABC transporter type 1, transmembrane domain |
| Family | IPR000388 | ATP-binding cassette sub-family C member 8/9 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | AAA+ ATPase domain | ABC transporter-like, ATP-binding domain | ABC transporter-like, conserved site | ABC transporter type 1, transmembrane domain | ABC transporter type 1, transmembrane domain superfamily | ATP-binding cassette subfamily C member 8 | ATP-binding cassette sub-family C member 8/9 | ATP-binding cassette transporter C-like | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1NTE0 | InterPro | 1581 | |||||||||
| UniProtKB:F1QMZ9 | InterPro | 1594 | |||||||||
| UniProtKB:A0A8M9PUX9 | InterPro | 781 | |||||||||
| UniProtKB:A0A8M3AP51 | InterPro | 1534 |
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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 | CH211-278A17 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001172647 (1) | 4947 nt | ||
| Genomic | GenBank:CR759741 (2) | 165845 nt | ||
| Polypeptide | UniProtKB:F1QMZ9 (1) | 1594 aa |
- Juliana, C.A., Benjet, J., De Leon, D.D. (2024) Characterization of the zebrafish as a model of ATP-sensitive potassium channel hyperinsulinism. BMJ open diabetes research & care. 12(2):
- Ikle, J.M., Tryon, R.C., Singareddy, S.S., York, N.W., Remedi, M.S., Nichols, C.G. (2022) Genome-edited zebrafish model of ABCC8 loss-of-function disease. Islets. 14:200209200-209
- Singareddy, S.S., Roessler, H.I., McClenaghan, C., Ikle, J., Tryon, R., van Haaften, G., Nichols, C.G. (2021) ATP-sensitive potassium channels in zebrafish cardiac and vascular smooth muscle. The Journal of physiology. 600(2):299-312
- Delgadillo-Silva, L.F., Tsakmaki, A., Akhtar, N., Franklin, Z.J., Konantz, J., Bewick, G.A., Ninov, N. (2019) Modelling pancreatic β-cell inflammation in zebrafish identifies the natural product wedelolactone for human islet protection. Disease models & mechanisms. 12(1):
- 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
- Emfinger, C.H., Welscher, A., Yan, Z., Wang, Y., Conway, H., Moss, J.B., Moss, L.G., Remedi, M.S., Nichols, C.G. (2017) Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells. Royal Society open science. 4:160808
- Foulkes, M.J., Henry, K.M., Rougeot, J., Hooper-Greenhill, E., Loynes, C.A., Jeffrey, P., Fleming, A., Savage, C.O., Meijer, A.H., Jones, S., Renshaw, S.A. (2017) Expression and regulation of drug transporters in vertebrate neutrophils. Scientific Reports. 7:4967
- O'Hare, E.A., Yerges-Armstrong, L.M., Perry, J.A., Shuldiner, A.R., Zaghloul, N.A. (2016) Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of β-Cell Mass Deficits. Molecular endocrinology (Baltimore, Md.). 30(4):429-45
- Xu, T., Zhao, J., Xu, Z., Pan, R., Yin, D. (2016) The developmental effects of pentachlorophenol on zebrafish embryos during segmentation: A systematic view. Scientific Reports. 6:25929
- Ren, J., Chung-Davidson, Y.W., Yeh, C.Y., Scott, C., Brown, T., Li, W. (2015) Genome-wide analysis of the ATP-binding cassette (ABC) transporter gene family in sea lamprey and Japanese lamprey. BMC Genomics. 16:436
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