Gene
col6a4a
- ID
- ZDB-GENE-041111-303
- Name
- collagen, type VI, alpha 4a
- Symbol
- col6a4a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable serine-type endopeptidase inhibitor activity. Acts upstream of or within axonogenesis and muscle organ development. Is expressed in several structures, including digestive system; musculature system; nervous system; spleen; and ventral mesenchyme. Orthologous to several human genes including COL6A6 (collagen type VI alpha 6 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152043 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Ramanoudjame et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa565 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa5895 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa9393 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa12050 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa14196 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa17668 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa22900 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36205 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36206 | Allele with one point mutation | Unknown | Unknown | ENU | |
| sa36207 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB32TBZ3 | InterPro | 2574 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col6a4a-201
(1)
|
Ensembl | 8,669 nt | ||
| mRNA |
col6a4a-202
(1)
|
Ensembl | 5,445 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-202M9 | ZFIN Curated Data | |
| Encodes | EST | IMAGE:7152043 | Thisse et al., 2004 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068214283 (1) | 9868 nt | ||
| Genomic | GenBank:CR942305 (1) | 176846 nt | ||
| Polypeptide | UniProtKB:A0AB32TBZ3 (1) | 2574 aa |
- Drepanos, L., Gans, I.M., Grendler, J., Guitar, S., Fuqua, J.H., Maki, N.J., Tilden, A.R., Graber, J.H., Coffman, J.A. (2023) Loss of Krüppel-like factor 9 deregulates both physiological gene expression and development. Scientific Reports. 13:1223912239
- Sarohi, V., Srivastava, S., Basak, T. (2022) Comprehensive Mapping and Dynamics of Site-Specific Prolyl-Hydroxylation, Lysyl-Hydroxylation and Lysyl O-Glycosylation of Collagens Deposited in ECM During Zebrafish Heart Regeneration. Frontiers in molecular biosciences. 9:892763
- Tonelotto, V., Consorti, C., Facchinello, N., Trapani, V., Sabatelli, P., Giraudo, C., Spizzotin, M., Cescon, M., Bertolucci, C., Bonaldo, P. (2022) Collagen VI ablation in zebrafish causes neuromuscular defects during developmental and adult stages. Matrix biology : journal of the International Society for Matrix Biology. 112:39-61
- Tonelotto, V., Trapani, V., Bretaud, S., Heumüller, S.E., Wagener, R., Ruggiero, F., Bonaldo, P. (2019) Spatio-temporal expression and distribution of collagen VI during zebrafish development. Scientific Reports. 9:19851
- Bretaud, S., Nauroy, P., Malbouyres, M., Ruggiero, F. (2018) FISHING FOR COLLAGEN FUNCTION: ABOUT DEVELOPMENT, REGENERATION AND DISEASE. Seminars in cell & developmental biology. 89:100-108
- 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
- Ramanoudjame, L., Rocancourt, C., Lainé, J., Klein, A., Joassard, L., Gartioux, C., Fleury, M., Lyphout, L., Kabashi, E., Ciura, S., Cousin, X., Allamand, V. (2015) Two novel COLVI long chains in zebrafish that are essential for muscle development. Human molecular genetics. 24(23):6624-39
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