Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
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Genetic complementation in transporter-deficient Lec2 CHO cells showed that neither patient SLC35A1 allele restored sialylation, whereas wild-type SLC35A1 fully restored the sialylated phenotype, defining CDG type IIf.
"No complementation was
obtained with either of the 2 patient alleles, whereas full restoration of the
sialylated phenotype was obtained in the Lec2 cells transfected with the
corresponding human wild-type transcript"
Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
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A homozygous p.Gln101His SLC35A1 variant showed normal Golgi localization but ~50% reduction in CMP-sialic acid transport activity, causing a generalized sialylation defect with macrothrombocytopenia and intellectual disability.
"Functional analysis of mutant SLC35A1 showed normal Golgi
localization but 50%
reduction in transport activity of CMP-sialic acid in vitro"
A reference map of the human binary protein interactome.
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HuRI is a proteome-scale binary (Y2H) interactome map; it is the source of the 35 systematic SLC35A1 protein-binding (GO:0005515) IPI calls, which reflect high-throughput screening rather than functionally characterized partners.
"we present a human 'all-by-all'
reference interactome map of human binary protein interactions, or 'HuRI'"
Functional expression of human golgi CMP-sialic acid transporter in the Golgi complex of a transporter-deficient Chinese hamster ovary cell mutant.
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Human CST cDNA corrected the CMP-sialic acid transporter-deficient Lec2 CHO phenotype, restoring CMP-sialic acid transport, and the protein was localized to the Golgi membrane by immunofluorescence with the C-terminus exposed to the cytosol.
"subcellular localization of the hCST protein in the Golgi membrane
was demonstrated by immunofluorescence"
Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP
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Reactome describes SLC35A1 as the CMP-sialic acid transporter that antiports CMP-Neu5Ac into the Golgi lumen in exchange for CMP, with defects causing CDG2F.
"SLC35A1 encodes the CMP-sialic acid transporter which mediates the antiport of CMP-sialic acid (CMP-Neu5Ac) into the Golgi lumen in exchange for CMP"
SLC35A1 exchanges CMP-Neu5Ac for CMP
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Reactome reaction for the physiological CMP-Neu5Ac/CMP exchange carried out by SLC35A1 at the Golgi membrane.
"SLC35A1 encodes the CMP-sialic acid transporter which mediates the antiport of CMP-sialic acid (CMP-Neu5Ac) into the Golgi lumen in exchange for CMP"
DAG1 glycosylations
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Pathway describing O-mannosyl/matriglycan glycosylation of alpha-dystroglycan, which depends on Golgi sugar-nucleotide supply; SLC35A1 participates by importing the relevant nucleotide sugars.
"Glycosylation is essential for DAG1(30-653) function"
SLC35A1,4 import CDP-ribitol
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SLC35A1 (with SLC35A4) imports CDP-ribitol from the cytosol into the Golgi in exchange for CDP, contributing CDP-ribitol for matriglycan synthesis.
"transport CDP-ribitol from cytosol into the Golgi, in exchange for one molecule
of CDP"