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 have transferase activity, transferring glycosyl groups. Predicted to be involved in carbohydrate metabolic process. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome progeroid type. 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
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 |
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 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Beta-1,4-galactosyltransferase | Galactosyltransferase, C-terminal | Galactosyltransferase, N-terminal | Nucleotide-diphospho-sugar transferases |
---|---|---|---|---|---|
UniProtKB:A0A8M9PZ57
|
328 | ||||
UniProtKB:Q6DRL9
|
317 |
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 |
Interactions and Pathways
No data available
Plasmids
No data available