solute carrier family 35 member A1

Summary
Gene Symbol
  • SLC35A1
Aliases
  • CMP-Sia-Tr
  • CMP-sialic acid transporter
  • CMPST
  • hCST
Organism
Homo sapiens (human)
External Links
NCBI Gene
10559
GGDB ID
HGNC
11021
mRNA
map
  • 6q15
Protein
OMIM
KEGG Gene ID
hsa:10559
PubChem
10559
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Antiport
  • Congenital disorder of glycosylation
  • Disease variant
  • Golgi apparatus
  • Reference proteome
  • Sugar transport
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
P78382
  • Solute carrier family 35 member A1
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg178
Gene Symbol
  • SLC35A1
Orthologous Gene
Displaying all 2 entries
Species Protein mRNA
Rattus norvegicus XP_232884 XM_232884
Mus musculus NP_036025 NM_011895
KEGG BRITE Database
Orthology
K15272
Name
solute carrier family 35 (UDP-sugar transporter), member A1/2/3
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 125 in total
DO ID Disease Name Source
DOID:0110741 type 1 diabetes mellitus 2
DOID:0110742 type 1 diabetes mellitus 3
DOID:0050571 congenital disorder of glycosylation type II
DOID:0050572 cone-rod dystrophy
DOID:0050589 inflammatory bowel disease
DOID:0050590 severe congenital neutropenia
DOID:0050759 myotonic dystrophy type 2
DOID:0070258 congenital disorder of glycosylation type IIf
DOID:0080348 Alzheimer's disease 1
DOID:0080568 congenital disorder of glycosylation Iq
The Human Phenotype Ontology
Displaying entries 1 - 10 of 35 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000093 Proteinuria
HP:0000252 Microcephaly
HP:0000322 Short philtrum
HP:0000465 Webbed neck
HP:0000490 Deeply set eye
HP:0000601 Hypotelorism
HP:0000639 Nystagmus
HP:0001249 Intellectual disability
HP:0001250 Seizure
Displaying all 2 entries
Disease ID Disease Name
ORPHA:238459
  • SLC35A1-congenital disorder of glycosylation
OMIM:603585
  • SLC35A1-congenital disorder of glycosylation

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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