Gene
col1a1b
- ID
- ZDB-GENE-030131-4400
- Name
- collagen, type I, alpha 1b
- Symbol
- col1a1b Nomenclature History
- Previous Names
-
- col1a3
- alpha3(I) (1)
- fj59a10
- hm:zeh0348
- wu:fa95h05
- wu:fd02a10
- wu:fj59a10
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in cytoplasm and extracellular matrix. Is expressed in several structures, including corneal epithelium; integument; muscle; osteoblast; and trunk. Used to study osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 28 figures from 18 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77441 (11 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
dmh29 | Allele with one point mutation | Unknown | Nonsynonymous | ENU | |
sa12931 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa41934 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa45443 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 4 of 4
Show
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Caffey disease | Alliance | Caffey disease | 114000 |
Ehlers-Danlos syndrome arthrochalasia type 1 | Alliance | Ehlers-Danlos syndrome, arthrochalasia type, 1 | 130060 |
osteogenesis imperfecta type 1 | Alliance | Osteogenesis imperfecta, type I | 166200 |
osteogenesis imperfecta type 2 | Alliance | Osteogenesis imperfecta, type II | 166210 |
osteogenesis imperfecta type 3 | Alliance | Osteogenesis imperfecta, type III | 259420 |
1 - 5 of 8 Show all
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
osteogenesis imperfecta | col1a1bdmh29/+ | standard conditions | Gistelinck et al., 2018 |
1 - 1 of 1
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 | Fibrillar collagen, C-terminal | VWFC domain |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B227 | InterPro | 1448 | |||||
UniProtKB:Q6PEI9 | InterPro | 1449 | |||||
UniProtKB:A0A8M2B1Z3 | InterPro | 1395 |
1 - 3 of 3
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col1a1b-201
(1)
|
Ensembl | 5,610 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-190L11 | ZFIN Curated Data | |
Encodes | EST | fa95h05 | ZFIN Curated Data | |
Encodes | EST | fj59a10 | ZFIN Curated Data | |
Encodes | EST | zeh0348 | ZFIN Curated Data | |
Encodes | cDNA | MGC:65877 | ZFIN Curated Data | |
Encodes | cDNA | MGC:77441 | ZFIN Curated Data | |
Has Artifact | EST | fd02a05 | ||
Has Artifact | EST | fd02a10 |
1 - 8 of 8
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_201478 (1) | 5603 nt | ||
Genomic | GenBank:BX548040 (2) | 147855 nt | ||
Polypeptide | UniProtKB:Q6PEI9 (1) | 1449 aa |
- Debaenst, S., Jarayseh, T., De Saffel, H., Bek, J.W., Boone, M., Josipovic, I., Kibleur, P., Kwon, R.Y., Coucke, P.J., Willaert, A. (2025) Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility. eLIFE. 13:
- 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
- Rayamajhi, D., Ege, M., Ukhanov, K., Ringers, C., Zhang, Y., Jung, I., D'Gama, P.P., Li, S.S., Cosacak, M.I., Kizil, C., Park, H.C., Yaksi, E., Martens, J.R., Brody, S.L., Jurisch-Yaksi, N., Roy, S. (2024) The forkhead transcription factor Foxj1 controls vertebrate olfactory cilia biogenesis and sensory neuron differentiation. PLoS Biology. 22:e3002468e3002468
- 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
- Zhu, M., Li, Y., Liu, D., Gong, Z. (2024) Partial Hepatectomy Promotes the Development of KRASG12V-Induced Hepatocellular Carcinoma in Zebrafish. Cancers. 16(10):
- 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
- Guillemyn, B., De Saffel, H., Bek, J.W., Tapaneeyaphan, P., De Clercq, A., Jarayseh, T., Debaenst, S., Willaert, A., De Rycke, R., Byers, P.H., Rosseel, T., Coucke, P., Blaumeiser, B., Syx, D., Malfait, F., Symoens, S. (2023) Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 38(11):1718-1730
- Jin, Z., Wang, D., Lv, H., Wu, B., Li, Z., Guo, X., Wang, H., Yang, S. (2023) Loss of the adaptor protein Sh3bgrl initiates ovarian fibrosis in zebrafish. FEBS letters. 597(21):2643-2655
- Qin, M.C., Li, J.J., Zheng, Y.T., Li, Y.J., Zhang, Y.X., Ou, R.X., He, W.Y., Zhao, J.M., Liu, S.T., Liu, M.H., Lin, H.Y., Gao, L. (2023) Naringin ameliorates liver fibrosis in zebrafish by modulating IDO1-mediated lipid metabolism and inflammatory infiltration. Food & function. 14(23):10347-10361
- Vöcking, O., Famulski, J.K. (2023) A temporal single cell transcriptome atlas of zebrafish anterior segment development. Scientific Reports. 13:56565656
1 - 10 of 67
Show