Gene
slc4a1a
- ID
- ZDB-GENE-010525-1
- Name
- solute carrier family 4 member 1a (Diego blood group)
- Symbol
- slc4a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to enable bicarbonate transmembrane transporter activity. Acts upstream of or within embryonic hemopoiesis; erythrocyte differentiation; and monoatomic anion transport. Predicted to be located in membrane. Predicted to be active in basolateral plasma membrane. Is expressed in several structures, including erythroid lineage cell; hematopoietic system; liver; mesoderm; and pleuroperitoneal region. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in congenital hemolytic anemia; hereditary spherocytosis; and renal tubular acidosis. Orthologous to human SLC4A1 (solute carrier family 4 member 1 (Diego blood group)).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 42 figures from 23 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7145604 (14 images)
- IMAGE:7158110 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa17733 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa30830 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa33146 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40044 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| slc4a1a_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
| tr217 | Allele with one point mutation | Unknown | Cryptic Acceptor Splice Site, Frameshift | ENU | |
| tr265 | Allele with one point mutation | Unknown | Missense | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spherocytosis type 4 | Alliance | Spherocytosis, type 4 | 612653 |
| Cryohydrocytosis | 185020 | ||
| Distal renal tubular acidosis 1 | 179800 | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | 611590 | ||
| Ovalocytosis, SA type | 166900 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cardiomyopathy | slc4a1atr265/tr265 | standard conditions | Ding et al., 2016 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018241 | Anion exchange, conserved site |
| Domain | IPR011531 | Bicarbonate transporter-like, transmembrane domain |
| Domain | IPR013769 | Band 3 cytoplasmic domain |
| Family | IPR001717 | Anion exchange protein |
| Family | IPR003020 | Bicarbonate transporter, eukaryotic |
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Domain Details Per Protein
| Protein | Length | Anion exchange, conserved site | Anion exchange protein | Band 3 cytoplasmic domain | Bicarbonate transporter, eukaryotic | Bicarbonate transporter-like, transmembrane domain | Phosphotransferase/anion transporter |
|---|---|---|---|---|---|---|---|
|
UniProtKB:Q7ZZJ7
|
905 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | ottdart00000001986 (1) | Havana | 3,500 nt | ||
| mRNA |
slc4a1a-201
(1)
|
Ensembl | 2,859 nt | ||
| mRNA |
slc4a1a-202
(1)
|
Ensembl | 3,463 nt | ||
| mRNA |
slc4a1a-203
(1)
|
Ensembl | 3,554 nt |
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Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab2-slc4a1 | polyclonal | Rabbit |
|
1 | |||
| Ab1-slc4a1 | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-15K2 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-180G5 | ||
| Encodes | EST | IMAGE:7145604 | Thisse et al., 2004 | |
| Encodes | EST | IMAGE:7158110 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:111889 | ||
| Encodes | cDNA | MGC:152771 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:195366 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_198338 (1) | 3478 nt | ||
| Genomic | GenBank:AL604064 (1) | 136041 nt | ||
| Polypeptide | UniProtKB:Q7ZZJ7 (1) | 905 aa |
- Dong, Y., Yang, Y., Wang, H., Feng, D., Nist, E., Yapundich, N., Spurlock, B., Craft, M., Qian, L., Liu, J. (2024) Single-cell chromatin profiling reveals genetic programs activating proregenerative states in nonmyocyte cells. Science advances. 10:eadk4694
- Han, X., He, W., Liang, D., Liu, X., Zhou, J., de Thé, H., Zhu, J., Yuan, H. (2024) Creg1 Regulates Erythroid Development via TGF-β/Smad2-Klf1 Axis in Zebrafish. Advanced science (Weinheim, Baden-Wurttemberg, Germany). 11(33):e2402804
- Suzuki, H., Ogawa, T., Fujita, S., Sone, R., Kawahara, A. (2023) Cooperative contributions of the klf1 and klf17 genes in zebrafish primitive erythropoiesis. Scientific Reports. 13:1227912279
- Chen, M., Zhang, Y., Jiang, K., Wang, W., Feng, H., Zhen, R., Moo, C., Zhang, Z., Shi, J., Chen, C. (2022) Grab regulates transferrin receptor recycling and iron uptake in developing erythroblasts. Blood. 140(10):1145-1155
- Dong, H., Mao, L., Bai, C., Ye, K., Wu, H., Lei, Y., Yu, S., Liu, Y., Tao, J., Pan, W., Xu, H., Lin, J., Zhu, J., Dong, Q. (2022) Characterization of Developmental Neurobehavioral Toxicity in a Zebrafish MPTP-Induced Model: A Novel Mechanism Involving Anemia. ACS Chemical Neuroscience. 13(13):1877-1890
- Ge, G., Long, Y., Song, G., Li, Q., Cui, Z., Yan, H. (2022) Transcriptomic Profiling Revealed Signaling Pathways Associated with the Spawning of Female Zebrafish under Cold Stress. International Journal of Molecular Sciences. 23(14):
- Belmonte, R.L., Engbretson, I.L., Kim, J.H., Cajias, I., Ahn, E.E., Stachura, D.L. (2021) son is necessary for proper vertebrate blood development. PLoS One. 16:e0247489
- Cai, Y., Wang, J., Jin, D., Liu, Q., Xianglei, C., Lili, P., Yang, L., Wang, X., Qian, F., Wang, J., Zhong, T.P., Wang, S. (2021) Dhx15 regulates zebrafish definitive hematopoiesis through the unfolded protein response pathway. Cancer science. 112(9):3884-3894
- Weinreb, J.T., Gupta, V., Sharvit, E., Weil, R., Bowman, T.V. (2021) Ddx41 inhibition of DNA damage signaling permits erythroid progenitor expansion in zebrafish. Haematologica. 107(3):644-654
- Wu, S., Chen, K., Xu, T., Ma, K., Gao, L., Fu, C., Zhang, W., Jing, C., Ren, C., Deng, M., Chen, Y., Zhou, Y., Pan, W., Jia, X. (2021) Tpr Deficiency Disrupts Erythroid Maturation With Impaired Chromatin Condensation in Zebrafish Embryogenesis. Frontiers in cell and developmental biology. 9:709923
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