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 varian... See more...

Aliases for SLC35A1 Gene

Aliases for SLC35A1 Gene

  • Solute Carrier Family 35 Member A1 2 3 4 5
  • Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member A1 2 3
  • Solute Carrier Family 35 (UDP-Galactose Transporter), Member 1 2 3
  • CMP-Sialic Acid Transporter 3 4
  • 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 Congenital Disorder Of Glycosylation, Type Ii. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include carbohydrate:proton symporter activity and CMP-N-acetylneuraminate transmembrane transporter activity. An important paralog of this gene is SLC35A2.

UniProtKB/Swiss-Prot Summary for SLC35A1 Gene

  • Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function (PubMed:15576474). Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity).

Gene Wiki entry for SLC35A1 Gene

Additional gene information for SLC35A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC35A1 Gene

Genomics for SLC35A1 Gene

GeneHancer (GH) Regulatory Elements for SLC35A1 Gene

Promoters and enhancers for SLC35A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC35A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC35A1

Top Transcription factor binding sites by QIAGEN in the SLC35A1 gene promoter:
  • C/EBPalpha
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Roaz

Genomic Locations for SLC35A1 Gene

Genomic Locations for SLC35A1 Gene
chr6:87,470,623-87,512,339
(GRCh38/hg38)
Size:
41,717 bases
Orientation:
Plus strand
chr6:88,180,341-88,222,057
(GRCh37/hg19)
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:
    • Monomer.

    Alternative splice isoforms for SLC35A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35A1 Gene

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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC35A1 Gene

Blocks:
  • Nucleotide-sugar transporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC35A1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57952, highly similar to CMP-sialic acid transporter (B4DEM1_HUMAN)
  • CMP-sialic acid transporter (Q5W1L6_HUMAN)
  • Mutated CMP-sialic acid transporter A1 (Q6A0F2_HUMAN)
  • Mutated CMP-sialic acid transporter A1 (Q6A0F3_HUMAN)
  • Solute carrier family 35 member A1 (S35A1_HUMAN)

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 (PubMed:15576474). Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity).

Phenotypes From GWAS Catalog for SLC35A1 Gene

Gene Ontology (GO) - Molecular Function for SLC35A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005456 CMP-N-acetylneuraminate transmembrane transporter activity TAS --
GO:0005459 UDP-galactose transmembrane transporter activity IBA 21873635
GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity IEA --
GO:0015297 antiporter activity ISS --
genes like me logo Genes that share ontologies with SLC35A1: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35A1

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC35A1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC35A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA,TAS 21873635
GO:0005887 integral component of plasma membrane TAS 9644260
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,ISS --
genes like me logo Genes that share ontologies with SLC35A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC35A1 Gene

Pathways & Interactions for SLC35A1 Gene

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

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:0008643 carbohydrate transport IEA --
GO:0015782 CMP-N-acetylneuraminate transmembrane transport TAS,ISS --
GO:0072334 UDP-galactose transmembrane transport IEA --
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

mRNA/cDNA for SLC35A1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35A1

Clone Products

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

Expression for SLC35A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for SLC35A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC35A1

SOURCE GeneReport for Unigene cluster for SLC35A1 Gene:

Hs.423163

Evidence on tissue expression from TISSUES for SLC35A1 Gene

  • Lung(4.3)
  • Liver(4.2)
  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35A1 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
Regions:
General:
  • blood
  • coagulation system
  • white blood cell
genes like me logo Genes that share expression patterns with SLC35A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia SLC35A1 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC35A1 31 30
  • 94.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC35A1 31 30
  • 92.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC35A1 31
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a1 17 31 30
  • 87.6 (n)
rat
(Rattus norvegicus)
Mammalia Slc35a1 30
  • 87.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A1 31
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35A1 31 30
  • 77.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35A1 31
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc35a1 31 30
  • 67.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Csat 32
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea ugtp-1 31 30
  • 51.58 (n)
OneToOne
ZK370.7 32
  • 39 (a)
F44C8.7 32
  • 37 (a)
B0212.4b 32
  • 34 (a)
B0212.4a 32
  • 34 (a)
ZC250.3 32
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9057 31
  • 39 (a)
OneToOne
Species where no ortholog for SLC35A1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC35A1: view image

Paralogs for SLC35A1 Gene

Paralogs for SLC35A1 Gene

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

  • S35A1_HUMAN
  • B4DEM1_HUMAN
  • Q5W1L6_HUMAN
  • Q5W1L7_HUMAN
  • Q6A0F2_HUMAN
  • Q6A0F3_HUMAN
genes like me logo Genes that share paralogs with SLC35A1: view

Variants for SLC35A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC35A1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
665876 Uncertain Significance: Congenital disorder of glycosylation type 2F 87,508,544(+) T/G MISSENSE_VARIANT,INTRON_VARIANT
681467 Likely Benign: not provided 87,501,271(+) G/A SYNONYMOUS_VARIANT
703586 Likely Benign: not provided 87,501,151(+) T/C INTRON_VARIANT
704611 Likely Benign: not provided 87,477,459(+) C/T SYNONYMOUS_VARIANT
744698 Likely Benign: not provided 87,506,432(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC35A1 Gene

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

Variant ID Type Subtype PubMed ID
dgv6085n100 CNV gain 25217958
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)

Additional Variant Information for SLC35A1 Gene

Human Gene Mutation Database (HGMD)
SLC35A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35A1

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

Disorders for SLC35A1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for SLC35A1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 (Journal of biochemistry 1996) 2 3 4 23 54
  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 (Journal of biochemistry 1998) 2 3 23 54
  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 (Biochemical and biophysical research communications 2006) 3 23 54
  4. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. (PMID: 15576474) Martinez-Duncker I … Mollicone R (Blood 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for SLC35A1 Gene

Sources for SLC35A1 Gene