C1GALT1 specific chaperone 1

Summary
Gene Symbol
  • C1GALT1C1
Aliases
  • C1GALT2
  • COSMC
Organism
Homo sapiens (human)
External Links
NCBI Gene
29071
GGDB ID
HGNC
24338
mRNA
map
  • Xq24
Protein
OMIM
KEGG Gene ID
hsa:29071
PubChem
29071
Alliance of Genome Resources
Annotation
Keyword
  • Chaperone
  • Disease variant
  • Hemolytic uremic syndrome
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q96EU7
  • C38H2-like protein 1
  • Core 1 beta1,3-galactosyltransferase 2
  • Core 1 beta3-galactosyltransferase-specific molecular chaperone
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000171155

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

GlycoGene Database (GGDB)
GGDB ID
gg076
Gene Symbol
  • C1GALT1C1
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus NP_001025204 NM_001030033
Mus musculus NP_067525 NM_021550
KEGG BRITE Database
Orthology
K09653
Name
C1GALT1-specific chaperone 1
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R05908
Disease
Disease Ontology
Displaying entries 21 - 30 of 38 in total
DO ID Disease Name Source
DOID:2871 endometrial carcinoma
DOID:2914 immune system disease
DOID:2921 glomerulonephritis
DOID:2986 IgA glomerulonephritis
DOID:3571 liver cancer
DOID:4028 angioma serpiginosum
DOID:417 autoimmune disease
DOID:468 intramuscular hemangioma
DOID:474 histiocytoid hemangioma
DOID:4766 embryoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 31 in total
HPO ID HPO Term
HP:0000093 Proteinuria
HP:0000278 Retrognathia
HP:0000322 Short philtrum
HP:0000348 High forehead
HP:0000358 Posteriorly rotated ears
HP:0000431 Wide nasal bridge
HP:0000527 Long eyelashes
HP:0001263 Global developmental delay
HP:0001419 X-linked recessive inheritance
HP:0001442 Typified by somatic mosaicism
Displaying all 2 entries
Disease ID Disease Name
OMIM:301110
  • hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
OMIM:300622
  • Tn polyagglutination syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024