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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-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
  • CMP-Sialic Acid Transporter 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 Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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 SLC35A2.

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

Additional gene information for SLC35A1 Gene

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

Genomics for SLC35A1 Gene

GeneHancer (GH) Regulatory Elements for SLC35A1 Gene

Promoters and enhancers for SLC35A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I087472 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 592 +2.6 2559 2.1 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B IRF4 SLC35A1 RARS2 ZNF292 ENSG00000272008 ORC3 C6orf163 GC06P087489 ENSG00000213204
GH06I087697 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.8 +229.7 229734 6.6 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D AKIRIN2 GC06M087700 SLC35A1 ENSG00000272008 ORC3 ZNF292 LINC01590 RARS2 SMIM8 GC06P087659
GH06I087151 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 34 -316.2 -316223 6.4 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF292 ENSG00000272008 RARS2 SLC35A1 LINC01590 ORC3 SMIM8 CGA C6orf163
GH06I087587 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.2 +119.1 119065 3.6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RARS2 GC06P087588 ORC3 SLC35A1 C6orf163 ZNF292
GH06I087570 Enhancer 1 Ensembl ENCODE 41.2 +102.5 102530 4.9 HDAC1 PKNOX1 CLOCK FOXA2 ZSCAN4 ZNF133 NEUROD1 MZF1 SIN3A FEZF1 SLC35A1 RNU6-444P RARS2 AKIRIN2 GC06P087563 GC06P087588
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC35A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC35A1 gene promoter:

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)

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

Post-translational modifications for SLC35A1 Gene

No Post-translational modifications

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

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.

Phenotypes From GWAS Catalog for SLC35A1 Gene

Gene Ontology (GO) - Molecular Function for SLC35A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005351 sugar:proton symporter activity IEA --
GO:0005456 CMP-N-acetylneuraminate transmembrane transporter activity TAS --
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

CRISPR Products

Inhibitory RNA Products

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 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 TAS 9644260
GO:0005887 integral component of plasma membrane TAS 9644260
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0006810 transport IEA --
GO:0008643 carbohydrate transport IEA --
GO:0015782 CMP-N-acetylneuraminate transmembrane transport TAS 9644260
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:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SLC35A1

Expression for SLC35A1 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of SLC35A1 Gene:

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
Organs:
General:
  • blood
  • coagulation system
  • white blood cell
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 , 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 33 34
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia SLC35A1 33 34
  • 94.26 (n)
cow
(Bos Taurus)
Mammalia SLC35A1 33 34
  • 92.48 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC35A1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35a1 33 16 34
  • 87.6 (n)
rat
(Rattus norvegicus)
Mammalia Slc35a1 33
  • 87.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35A1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35A1 33 34
  • 77.35 (n)
lizard
(Anolis carolinensis)
Reptilia SLC35A1 34
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc35a1 33 34
  • 67.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta Csat 35
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea ugtp-1 33 34
  • 51.58 (n)
ZK370.7 35
  • 39 (a)
F44C8.7 35
  • 37 (a)
B0212.4a 35
  • 34 (a)
B0212.4b 35
  • 34 (a)
ZC250.3 35
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9057 34
  • 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)

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 Variation AA Info Type
rs1051131 benign, Congenital disorder of glycosylation, Pontoneocerebellar hypoplasia 87,511,828(+) A/G 3_prime_UTR_variant
rs1051148 benign, Congenital disorder of glycosylation, Pontoneocerebellar hypoplasia 87,512,174(+) T/G 3_prime_UTR_variant
rs10638303 risk-factor, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 87,508,883(+) CA/CACTCA intron_variant
rs10681831 benign, Congenital disorder of glycosylation, Pontoneocerebellar hypoplasia 87,512,046(+) TG/TGAATG 3_prime_UTR_variant
rs11432150 likely-benign, Congenital disorder of glycosylation, Pontoneocerebellar hypoplasia 87,511,813(+) AAAAAAAA/AAAAAAAAA 3_prime_UTR_variant

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

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

- 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 22 58
  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 22 58
  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 22 58
  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 58
  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 58

Products for SLC35A1 Gene

Sources for SLC35A1 Gene

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