Gene
col5a1
- ID
- ZDB-GENE-041105-6
- Name
- procollagen, type V, alpha 1
- Symbol
- col5a1 Nomenclature History
- Previous Names
-
- si:dkey-87m23.1
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including dermis; dermomyotome; head; neural crest; and notochord. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 20 figures from 10 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 |
|---|---|---|---|---|---|
| ca109 | Allele with one deletion | Exon 6 | Unknown | CRISPR | |
| la028380Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa4934 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa5957 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa23852 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa37227 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37228 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa43580 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa45726 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-col5a1 | (2) | |
| CRISPR2-col5a1 | Rajan et al., 2020 | |
| CRISPR3-col5a1 | Prendergast et al., 2022 | |
| CRISPR4-col5a1 | Prendergast et al., 2022 | |
| MO1-col5a1 | N/A | Minchin et al., 2015 |
| MO2-col5a1 | N/A | Minchin et al., 2015 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome classic type 1 | Alliance | Ehlers-Danlos syndrome, classic type, 1 | 130000 |
| Fibromuscular dysplasia, multifocal | 619329 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen superfamily | Collagen triple helix repeat | Concanavalin A-like lectin/glucanase domain superfamily | Fibrillar collagen, C-terminal | Laminin G domain | Thrombospondin-like, N-terminal domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PIP9 | InterPro | 2024 | |||||||
| UniProtKB:A0A8M9PD17 | InterPro | 2024 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col5a1-201
(1)
|
Ensembl | 9,581 nt | ||
| mRNA |
col5a1-202
(1)
|
Ensembl | 4,662 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 | CH73-165E7 | ZFIN Curated Data | |
| Contained in | BAC | CH73-331J9 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-87M23 | ZFIN Curated Data | |
| Contained in | Fosmid | CH1073-153C9 | ZFIN Curated Data | |
| Has Artifact | EST | fc69d06 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_021468998 (1) | 9397 nt | ||
| Genomic | GenBank:FP102894 (2) | 92532 nt | ||
| Polypeptide | UniProtKB:A0A8M9PD17 (1) | 2024 aa |
- Carey, C.M., Hollins, H.L., Schmid, A.V., Gagnon, J.A. (2024) Distinct features of the regenerating heart uncovered through comparative single-cell profiling. Biology Open. 13(4):
- Carver, J.J., Amato, C.M., Yao, H., Zhu, Y. (2024) Adamts9 is required for the development of primary ovarian follicles and maintenance of female sex in zebrafish. Biology of reproduction. 111(5):1107-1128
- Shin, K., Rodriguez-Parks, A., Kim, C., Silaban, I.M., Xia, Y., Sun, J., Dong, C., Keles, S., Wang, J., Cao, J., Kang, J. (2024) Harnessing the regenerative potential of interleukin11 to enhance heart repair. Nature communications. 15:96669666
- Bao, J., Yu, X., Ping, X., Shentu, X., Zou, J. (2023) Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome. Investigative ophthalmology & visual science. 64:2929
- Leonard, E.V., Figueroa, R.J., Bussmann, J., Lawson, N.D., Amigo, J.D., Siekmann, A.F. (2022) Regenerating vascular mural cells in zebrafish fin blood vessels are not derived from pre-existing ones and differentially require pdgfrb signalling for their development. Development (Cambridge, England). 149(7)
- Prendergast, A., Ziganshin, B.A., Papanikolaou, D., Zafar, M.A., Nicoli, S., Mukherjee, S., Elefteriades, J.A. (2022) Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes. 13(1):
- 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
- Wang, H., Segersvärd, H., Siren, J., Perttunen, S., Immonen, K., Kosonen, R., Chen, Y.C., Tolva, J., Laivuori, M., Mäyränpää, M.I., Kovanen, P.T., Sinisalo, J., Laine, M., Tikkanen, I., Lakkisto, P. (2022) Tankyrase Inhibition Attenuates Cardiac Dilatation and Dysfunction in Ischemic Heart Failure. International Journal of Molecular Sciences. 23(17)
- Grivas, D., González-Rajal, Á., de la Pompa, J.L. (2021) Midkine-a Regulates the Formation of a Fibrotic Scar During Zebrafish Heart Regeneration. Frontiers in cell and developmental biology. 9:669439
- Nayar, S., Morrison, J.K., Giri, M., Gettler, K., Chuang, L.S., Walker, L.A., Ko, H.M., Kenigsberg, E., Kugathasan, S., Merad, M., Chu, J., Cho, J.H. (2021) A myeloid-stromal niche and gp130 rescue in NOD2-driven Crohn's disease. Nature. 593(7858):275-281
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