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Aliases for SLC35A1 Gene

Aliases for SLC35A1 Gene

  • Solute Carrier Family 35 Member A1 2 3 4
  • Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member A1 2 3 5
  • Solute Carrier Family 35 (UDP-Galactose Transporter), Member 1 2 3
  • CMP-Sia-Tr 3 4
  • CMP-SA-Tr 3 4
  • Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member 1 3
  • Mutated CMP-Sialic Acid Transporter A1 3
  • CDG2F 3
  • CMPST 3
  • HCST 3
  • CST 3

External Ids for SLC35A1 Gene

Previous GeneCards Identifiers for SLC35A1 Gene

  • GC06P088126
  • GC06P088178
  • GC06P088239
  • GC06P088180
  • GC06P085398

Summaries for SLC35A1 Gene

Entrez Gene Summary for SLC35A1 Gene

  • The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

GeneCards Summary for SLC35A1 Gene

SLC35A1 (Solute Carrier Family 35 Member A1) is a Protein Coding gene. Diseases associated with SLC35A1 include congenital disorder of glycosylation, type iif and sialuria. Among its related pathways are Transport to the Golgi and subsequent modification and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include sugar:proton symporter activity and CMP-N-acetylneuraminate transmembrane transporter activity. An important paralog of this gene is SLC35A5.

UniProtKB/Swiss-Prot for SLC35A1 Gene

  • Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.

Gene Wiki entry for SLC35A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC35A1 Gene

Genomics for SLC35A1 Gene

Regulatory Elements for SLC35A1 Gene

Enhancers for SLC35A1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC35A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC35A1 Gene

Chromosome:
6
Start:
87,470,623 bp from pter
End:
87,512,339 bp from pter
Size:
41,717 bases
Orientation:
Plus strand

Genomic View for SLC35A1 Gene

Genes around SLC35A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC35A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35A1 Gene

Proteins for SLC35A1 Gene

  • Protein details for SLC35A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78382-S35A1_HUMAN
    Recommended name:
    CMP-sialic acid transporter
    Protein Accession:
    P78382
    Secondary Accessions:
    • Q5W1L8

    Protein attributes for SLC35A1 Gene

    Size:
    337 amino acids
    Molecular mass:
    36779 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC35A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35A1 Gene

Proteomics data for SLC35A1 Gene at MOPED

Post-translational modifications for SLC35A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35A1 Gene

No data available for DME Specific Peptides for SLC35A1 Gene

Domains & Families for SLC35A1 Gene

Gene Families for SLC35A1 Gene

Protein Domains for SLC35A1 Gene

Graphical View of Domain Structure for InterPro Entry

P78382

UniProtKB/Swiss-Prot:

S35A1_HUMAN :
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
Family:
  • Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
genes like me logo Genes that share domains with SLC35A1: view

Function for SLC35A1 Gene

Molecular function for SLC35A1 Gene

UniProtKB/Swiss-Prot Function:
Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function.
genes like me logo Genes that share phenotypes with SLC35A1: view

Human Phenotype Ontology for SLC35A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC35A1

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC35A1 Gene

Localization for SLC35A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35A1 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC35A1 Gene COMPARTMENTS Subcellular localization image for SLC35A1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 2
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for SLC35A1 Gene

Pathways & Interactions for SLC35A1 Gene

genes like me logo Genes that share pathways with SLC35A1: view

Interacting Proteins for SLC35A1 Gene

Gene Ontology (GO) - Biological Process for SLC35A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 9644260
GO:0006464 cellular protein modification process TAS 9644260
GO:0006488 dolichol-linked oligosaccharide biosynthetic process TAS --
GO:0043687 post-translational protein modification TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC35A1: view

No data available for SIGNOR curated interactions for SLC35A1 Gene

Drugs & Compounds for SLC35A1 Gene

(2) Additional Compounds for SLC35A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC35A1: view

Transcripts for SLC35A1 Gene

Unigene Clusters for SLC35A1 Gene

Solute carrier family 35 (CMP-sialic acid transporter), member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for SLC35A1 Gene

GeneLoc Exon Structure for
SLC35A1
ECgene alternative splicing isoforms for
SLC35A1

Expression for SLC35A1 Gene

mRNA expression in normal human tissues for SLC35A1 Gene

Protein differential expression in normal tissues from HIPED for SLC35A1 Gene

This gene is overexpressed in Nasal epithelium (66.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC35A1 Gene



SOURCE GeneReport for Unigene cluster for SLC35A1 Gene Hs.423163

genes like me logo Genes that share expression patterns with SLC35A1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SLC35A1 Gene

Orthologs for SLC35A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC35A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC35A1 35
  • 92.48 (n)
  • 95.25 (a)
SLC35A1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC35A1 35
  • 94.26 (n)
  • 94.66 (a)
SLC35A1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a1 35
  • 87.6 (n)
  • 91.67 (a)
Slc35a1 16
Slc35a1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC35A1 35
  • 99.6 (n)
  • 100 (a)
SLC35A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35a1 35
  • 87.17 (n)
  • 93.06 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC35A1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A1 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35A1 35
  • 77.35 (n)
  • 84.57 (a)
SLC35A1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35A1 36
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc35a1 35
  • 67.17 (n)
  • 77.11 (a)
slc35a1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Csat 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea B0212.4a 37
  • 34 (a)
B0212.4b 37
  • 34 (a)
F44C8.7 37
  • 37 (a)
ZC250.3 37
  • 34 (a)
ZK370.7 37
  • 39 (a)
ugtp-1 35
  • 51.58 (n)
  • 40.98 (a)
ugtp-1 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9057 36
  • 39 (a)
OneToOne
Species with no ortholog for SLC35A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC35A1 Gene

ENSEMBL:
Gene Tree for SLC35A1 (if available)
TreeFam:
Gene Tree for SLC35A1 (if available)

Paralogs for SLC35A1 Gene

Paralogs for SLC35A1 Gene

(3) SIMAP similar genes for SLC35A1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SLC35A1: view

Variants for SLC35A1 Gene

Sequence variations from dbSNP and Humsavar for SLC35A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs6903332 -- 87,492,396(+) ttgta(C/G)aatct intron-variant
rs6906734 -- 87,475,264(+) TTATC(A/C)ACCAT intron-variant
rs6911364 -- 87,488,637(+) TAACT(C/T)AATCA intron-variant
rs10080513 -- 87,471,385(+) TGACA(A/C)TATAA upstream-variant-2KB
rs10650184 -- 87,470,953(+) GTGTG(-/TG/TGTG)CGTGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SLC35A1 Gene

Variant ID Type Subtype PubMed ID
nsv830722 CNV Gain 17160897

Variation tolerance for SLC35A1 Gene

Residual Variation Intolerance Score: 58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.81; 47.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC35A1 Gene

HapMap Linkage Disequilibrium report
SLC35A1
Human Gene Mutation Database (HGMD)
SLC35A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC35A1 Gene

Disorders for SLC35A1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC35A1 Gene - From: OMIM, ClinVar, and DISEASES

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iif
  • congenital disorder of glycosylation 2f
sialuria
  • sialic acid storage disease
phagocyte bactericidal dysfunction
  • phagocytic dysfunction
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S35A1_HUMAN
  • Congenital disorder of glycosylation 2F (CDG2F) [MIM:603585]: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:15576474}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC35A1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC35A1
genes like me logo Genes that share disorders with SLC35A1: view

No data available for Genatlas for SLC35A1 Gene

Publications for SLC35A1 Gene

  1. Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family. (PMID: 9010752) Ishida N. … Kawakita M. (J. Biochem. 1996) 2 3 4 23 67
  2. Functional expression of human golgi CMP-sialic acid transporter in the Golgi complex of a transporter-deficient Chinese hamster ovary cell mutant. (PMID: 9644260) Ishida N. … Kawakita M. (J. Biochem. 1998) 2 3 23
  3. Expression of human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter in tobacco suspension-cultured cell. (PMID: 16343442) Misaki R. … Seki T. (Biochem. Biophys. Res. Commun. 2006) 3 23
  4. Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters. (PMID: 12682060) Aoki K. … Kawakita M. (J. Biol. Chem. 2003) 3 23
  5. Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal I+-dystroglycan O-mannosylation, independent from sialic acid. (PMID: 25552652) Riemersma M. … Lefeber D.J. (Hum. Mol. Genet. 2015) 3

Products for SLC35A1 Gene

Sources for SLC35A1 Gene

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