Gene
b4galt7
- ID
- ZDB-GENE-040727-3
- Name
- xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
- Symbol
- b4galt7 Nomenclature History
- Previous Names
-
- zgc:110571
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable xylosylprotein 4-beta-galactosyltransferase activity. Acts upstream of or within several processes, including hatching behavior; proteoglycan biosynthetic process; and thigmotaxis. Predicted to be located in Golgi cisterna membrane and Golgi membrane. Predicted to be active in Golgi apparatus. Used to study Ehlers-Danlos syndrome. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome spondylodysplastic type 1. Orthologous to human B4GALT7 (beta-1,4-galactosyltransferase 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Delbaere et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| cmg45 | Allele with one deletion | Unknown | Unknown | not specified | |
| cmg47 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| hi1516Tg | Transgenic insertion | 5' UTR | Unknown | DNA | |
| hi4063aTg | Transgenic insertion | Intron 4 | Unknown | DNA | |
| sa22486 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa35695 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa39001 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-b4galt7 | Naert et al., 2020 | |
| CRISPR2-b4galt7 | Naert et al., 2020 | |
| CRISPR3-b4galt7 | Naert et al., 2020 | |
| MO1-b4galt7 | N/A | Delbaere et al., 2019 |
| MO2-b4galt7 | N/A | Delbaere et al., 2019 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Ehlers-Danlos syndrome spondylodysplastic type 1 | Alliance | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | 130070 |
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| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Ehlers-Danlos syndrome | b4galt7hi1516Tg/hi1516Tg | standard conditions | Nissen et al., 2006 |
| Ehlers-Danlos syndrome | b4galt7hi4063aTg/hi4063aTg | standard conditions | Nissen et al., 2006 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Beta-1,4-galactosyltransferase | Galactosyltransferase, C-terminal | Galactosyltransferase, N-terminal | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PZ57 | InterPro | 328 | ||||
| UniProtKB:Q6DRL9 | InterPro | 317 | ||||
| UniProtKB:A0AB32T339 | InterPro | 326 | ||||
| UniProtKB:A0AB32T616 | InterPro | 315 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b4galt7-201
(1)
|
Ensembl | 1,607 nt | ||
| mRNA |
b4galt7-202
(1)
|
Ensembl | 4,425 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 | DKEYP-110E4 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:110571 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191516 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003417 (1) | 1605 nt | ||
| Genomic | GenBank:BX323077 (1) | 195732 nt | ||
| Polypeptide | UniProtKB:A0A8M9PZ57 (1) | 328 aa |
- Delbaere, S., De Clercq, A., Mizumoto, S., Noborn, F., Bek, J.W., Alluyn, L., Gistelinck, C., Syx, D., Salmon, P.L., Coucke, P.J., Larson, G., Yamada, S., Willaert, A., Malfait, F. (2020) b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region. Frontiers in cell and developmental biology. 8:597857
- Naert, T., Tulkens, D., Edwards, N.A., Carron, M., Shaidani, N.I., Wlizla, M., Boel, A., Demuynck, S., Horb, M.E., Coucke, P., Willaert, A., Zorn, A.M., Vleminckx, K. (2020) Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos. Scientific Reports. 10:14662
- Delbaere, S., Van Damme, T., Syx, D., Symoens, S., Coucke, P., Willaert, A., Malfait, F. (2019) Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. Matrix biology : journal of the International Society for Matrix Biology. 89:59-75
- 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
- Nissen, R.M., Amsterdam, A., and Hopkins, N. (2006) A zebrafish screen for craniofacial mutants identifies wdr68 as a highly conserved gene required for Endothelin-1 expression. BMC Developmental Biology. 6:28
- Amsterdam, A., Nissen, R.M., Sun, Z., Swindell, E., Farrington, S., and Hopkins, N. (2004) Identification of 315 genes essential for early zebrafish development. Proceedings of the National Academy of Sciences of the United States of America. 101(35):12792-12797
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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