Gene

c1galt1c1

ID
ZDB-GENE-030131-2772
Name
C1GALT1-specific chaperone 1
Symbol
c1galt1c1 Nomenclature History
Previous Names
  • fc59b02
  • wu:fc17f08
  • wu:fc59b02
  • zgc:66375
Type
protein_coding_gene
Location
Chr: 14 Mapping Details/Browsers
Description
Predicted to enable glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in Tn polyagglutination syndrome and hemolytic-uremic syndrome. Orthologous to several human genes including C1GALT1C1 (C1GALT1 specific chaperone 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la018990TgTransgenic insertionUnknownUnknownDNA
1 - 1 of 1
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Sequence Targeting Reagents
No data available
Human Disease
Associated With c1galt1c1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Tn polyagglutination syndrome Alliance Tn polyagglutination syndrome, somatic 300622
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 301110
1 - 2 of 2
Associated With c1galt1c1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR026050 C1GALT1/C1GALT1-specific chaperone 1
1 - 1 of 1
Domain Details Per Protein
Protein Additional Resources Length C1GALT1/C1GALT1-specific chaperone 1
UniProtKB:E7FBK8 InterPro 317
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 14
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA c1galt1c1-201 (1) Ensembl 3,458 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-15N5ZFIN Curated Data
EncodesESTfc17f08
EncodesESTfc59b02
EncodesESTIMAGE:6904671Thisse et al., 2004
EncodescDNAMGC:66375ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanC1GALT1C1X
Amino acid sequence comparison (1)
Conserved genome location (synteny) (2)
MouseC1galt1c1X
Amino acid sequence comparison (1)
Conserved genome location (synteny) (2)
Citations
1 - 8 of 8
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