Gene
epb41b
- ID
- ZDB-GENE-030130-1
- Name
- erythrocyte membrane protein band 4.1b
- Symbol
- epb41b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Enables calmodulin binding activity. Acts upstream of or within embryonic hemopoiesis and erythrocyte differentiation. Located in plasma membrane. Is expressed in blood; liver; ovary; and pericardial region. Human ortholog(s) of this gene implicated in hereditary elliptocytosis. Orthologous to human EPB41 (erythrocyte membrane protein band 4.1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 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 |
---|---|---|---|---|---|
epb41b_unspecified | Unspecified Allele | Unknown | Unknown | not specified | |
sa15697 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36150 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa36151 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa42730 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa45577 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tm303c | Allele with one point mutation | Unknown | Premature Stop | ENU | |
tu275 | 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 |
---|---|---|---|
hereditary elliptocytosis | Alliance | Elliptocytosis-1 | 611804 |
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Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Band 4.1 domain | Ezrin/radixin/moesin-like | FERM/acyl-CoA-binding protein superfamily | FERM adjacent | FERM central domain | FERM conserved site | FERM, C-terminal PH-like domain | FERM domain | FERM, N-terminal | FERM superfamily, second domain | PH-like domain superfamily | SAB domain | Ubiquitin-like domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:Q8JG61 | InterPro | 1534 | |||||||||||||
UniProtKB:A0AB32T9B4 | InterPro | 1370 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
epb41b-201
(1)
|
Ensembl | 5,160 nt | ||
ncRNA |
epb41b-002
(1)
|
Ensembl | 500 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 | CH211-168I6 | ZFIN Curated Data | |
Contained in | BAC | DKEY-108F8 | ZFIN Curated Data | |
Encodes | EST | fb70c02 | ZFIN Curated Data | |
Encodes | cDNA | MGC:193936 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_175084 (1) | 5032 nt | ||
Genomic | GenBank:CR391910 (2) | 186084 nt | ||
Polypeptide | UniProtKB:Q8JG61 (1) | 1534 aa |
- Wu, M., Chen, Q., Li, J., Xu, Y., Lian, J., Liu, Y., Meng, P., Zhang, Y. (2022) Gfi1aa/Lsd1 Facilitates Hemangioblast Differentiation Into Primitive Erythrocytes by Targeting etv2 and sox7 in Zebrafish. Frontiers in cell and developmental biology. 9:786426
- Campbell, C.A., Fursova, O., Cheng, X., Snella, E., McCune, A., Li, L., Solchenberger, B., Schmid, B., Sahoo, D., Morton, M., Traver, D., Espín-Palazón, R. (2021) A zebrafish model of granulin deficiency reveals essential roles in myeloid cell differentiation. Blood advances. 5:796-811
- Sharma, D., Sehgal, P., Mathew, S., Vellarikkal, S.K., Singh, A.R., Kapoor, S., Jayarajan, R., Scaria, V., Sivasubbu, S. (2019) A genome-wide map of circular RNAs in adult zebrafish. Scientific Reports. 9:3432
- Moore, C., Richens, J.L., Hough, Y., Ucanok, D., Malla, S., Sang, F., Chen, Y., Elworthy, S., Wilkinson, R.N., Gering, M. (2018) Gfi1aa and Gfi1b set the pace for primitive erythroblast differentiation from hemangioblasts in the zebrafish embryo. Blood advances. 2:2589-2606
- 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
- Han, B., Li, W., Chen, Z., Xu, Q., Luo, J., Shi, Y., Li, X., Yan, X., Zhang, J. (2016) Variation of DNA Methylome of Zebrafish Cells under Cold Pressure. PLoS One. 11:e0160358
- 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
- Yang, R., Yan, S., Zhu, X., Li, C.Y., Liu, Z., Xiong, J.W. (2015) Antimalarial drug artemisinin depletes erythrocytes by activating apoptotic pathways in zebrafish. Experimental hematology. 43(4):331-341.e8
- Tang, F., Lei, X., Xiong, Y., Wang, R., Mao, J., Wang, X. (2014) Alteration Young's moduli by protein 4.1 phosphorylation play a potential role in the deformability development of vertebrate erythrocytes. Journal of biomechanics. 47(13):3400-7
- Bai, X., Kim, J., Yang, Z., Jurynec, M.J., Akie, T.E., Lee, J., LeBlanc, J., Sessa, A., Jiang, H., DiBiase, A., Zhou, Y., Grunwald, D.J., Lin, S., Cantor, A.B., Orkin, S.H., and Zon, L.I. (2010) TIF1gamma controls erythroid cell fate by regulating transcription elongation. Cell. 142(1):133-143
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