This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009] See more...

Aliases for SLC35C1 Gene

Aliases for SLC35C1 Gene

  • Solute Carrier Family 35 Member C1 2 3 4 5
  • FUCT1 2 3 4
  • Solute Carrier Family 35 (GDP-Fucose Transporter), Member C1 2 3
  • GDP-Fucose Transporter 1 3 4
  • Solute Carrier Family 35, Member C1 2
  • FLJ11320 2
  • SLC35C1 5
  • CDG2C 3

External Ids for SLC35C1 Gene

Previous GeneCards Identifiers for SLC35C1 Gene

  • GC00U913330
  • GC11P045791
  • GC11P045792
  • GC11P045783
  • GC11P045532
  • GC11P045826
  • GC11P045806
  • GC11P045914
  • GC11P045926
  • GC11P045931
  • GC11P045958
  • GC11P045814
  • GC11P045827
  • GC11P045843
  • GC11P045853
  • GC11P045869
  • GC11P045885
  • GC11P045897

Summaries for SLC35C1 Gene

Entrez Gene Summary for SLC35C1 Gene

  • This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

GeneCards Summary for SLC35C1 Gene

SLC35C1 (Solute Carrier Family 35 Member C1) is a Protein Coding gene. Diseases associated with SLC35C1 include Congenital Disorder Of Glycosylation, Type Iic and Immunodeficiency 47. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. An important paralog of this gene is SLC35D2.

UniProtKB/Swiss-Prot Summary for SLC35C1 Gene

  • Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

Gene Wiki entry for SLC35C1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC35C1 Gene

Genomics for SLC35C1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC35C1 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
GH11J045803 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 612.7 +1.6 1629 4.6 SP1 HNRNPL ATF7 PRDM10 REST IKZF1 NFKBIZ POLR2A BACH1 JUND SLC35C1 LINC02716 AMBRA1 CHST1 ENSG00000255447 CRY2
GH11J045801 Enhancer 0.9 Ensembl ENCODE 600.7 -1.7 -1708 1.7 SIX5 ZNF143 SP1 NFE2 FOXA2 USF1 NR2C2 ZNF217 JUND HCFC1 SLC35C1 LINC02716 piR-41880-002 CHST1
GH11J045846 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +43.7 43689 3.2 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 LEF1 SOX13 RFX5 CRY2 MAPK8IP1 AMBRA1 SLC35C1 HE855927
GH11J045771 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 7.7 -32.2 -32222 1.7 CTCF PRDM10 REST ZNF692 PRDM1 ZNF143 ZIC2 ZSCAN4 PKNOX1 PATZ1 LINC02716 SLC35C1 CHST1 lnc-SLC35C1-5 piR-41880-002
GH11J046236 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 +434.3 434264 4.7 RNF2 ARHGAP35 CEBPG CREB1 CTCF ZBTB33 HNRNPL ZNF629 PRDM10 LEF1 ENSG00000254639 ZNF408 ENSG00000270060 ENSG00000244313 LINC02489 CREB3L1 DDB2 AMBRA1 LARGE2 DGKZ
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC35C1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC35C1

Top Transcription factor binding sites by QIAGEN in the SLC35C1 gene promoter:
  • AP-1
  • c-Fos
  • CREB
  • deltaCREB
  • LCR-F1

Genomic Locations for SLC35C1 Gene

Genomic Locations for SLC35C1 Gene
chr11:45,804,072-45,813,016
(GRCh38/hg38)
Size:
8,945 bases
Orientation:
Plus strand
chr11:45,825,623-45,834,567
(GRCh37/hg19)
Size:
8,945 bases
Orientation:
Plus strand

Genomic View for SLC35C1 Gene

Genes around SLC35C1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35C1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC35C1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35C1 Gene

Proteins for SLC35C1 Gene

  • Protein details for SLC35C1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A29-FUCT1_HUMAN
    Recommended name:
    GDP-fucose transporter 1
    Protein Accession:
    Q96A29
    Secondary Accessions:
    • B2RDB2
    • Q9BV76
    • Q9NUJ8

    Protein attributes for SLC35C1 Gene

    Size:
    364 amino acids
    Molecular mass:
    39809 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA92126.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC35C1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35C1 Gene

Post-translational modifications for SLC35C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35C1 Gene

No data available for DME Specific Peptides for SLC35C1 Gene

Domains & Families for SLC35C1 Gene

Gene Families for SLC35C1 Gene

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

Protein Domains for SLC35C1 Gene

Suggested Antigen Peptide Sequences for SLC35C1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96534, highly similar to Homo sapiens GDP-fucose transporter 1, mRNA (B2RDB2_HUMAN)
  • cDNA FLJ90448 fis, clone NT2RP3001271, highly similar to GDP-fucose transporter 1 (B3KQH0_HUMAN)
  • Solute carrier family 35 member C1 (FUCT1_HUMAN)
  • cDNA FLJ14841 fis, clone OVARC1002158 (Q96K20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96A29

UniProtKB/Swiss-Prot:

FUCT1_HUMAN :
  • Belongs to the TPT transporter family. SLC35C subfamily.
Family:
  • Belongs to the TPT transporter family. SLC35C subfamily.
genes like me logo Genes that share domains with SLC35C1: view

Function for SLC35C1 Gene

Molecular function for SLC35C1 Gene

UniProtKB/Swiss-Prot Function:
Involved in GDP-fucose import from the cytoplasm into the Golgi lumen.

Phenotypes From GWAS Catalog for SLC35C1 Gene

Gene Ontology (GO) - Molecular Function for SLC35C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005338 nucleotide-sugar transmembrane transporter activity IBA 21873635
GO:0005457 GDP-fucose transmembrane transporter activity IEA,TAS --
GO:0015297 antiporter activity IBA 21873635
GO:0022857 transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC35C1: view
genes like me logo Genes that share phenotypes with SLC35C1: view

Human Phenotype Ontology for SLC35C1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC35C1 Gene

MGI Knock Outs for SLC35C1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35C1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC35C1 Gene

Localization for SLC35C1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35C1 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 SLC35C1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC35C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35C1: view

Pathways & Interactions for SLC35C1 Gene

genes like me logo Genes that share pathways with SLC35C1: view

Interacting Proteins for SLC35C1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000313318 Q96A29-FUCT1_HUMAN for SLC35C1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SLC35C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008643 carbohydrate transport IEA --
GO:0030259 lipid glycosylation IEA --
GO:0036066 protein O-linked fucosylation IBA 21873635
GO:0036085 GDP-fucose import into Golgi lumen IEA,IBA 21873635
GO:0045746 negative regulation of Notch signaling pathway IEA --
genes like me logo Genes that share ontologies with SLC35C1: view

No data available for SIGNOR curated interactions for SLC35C1 Gene

Drugs & Compounds for SLC35C1 Gene

No Compound Related Data Available

Transcripts for SLC35C1 Gene

mRNA/cDNA for SLC35C1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 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 SLC35C1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35C1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - -
SP2: - -
SP3:
SP4: - - - -

Relevant External Links for SLC35C1 Gene

GeneLoc Exon Structure for
SLC35C1

Expression for SLC35C1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC35C1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC35C1 Gene

This gene is overexpressed in Liver (x9.6).

Protein differential expression in normal tissues from HIPED for SLC35C1 Gene

This gene is overexpressed in Nasal epithelium (67.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC35C1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC35C1

SOURCE GeneReport for Unigene cluster for SLC35C1 Gene:

Hs.12211

Evidence on tissue expression from TISSUES for SLC35C1 Gene

  • Intestine(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35C1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • skull
  • tooth
Thorax:
  • lung
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SLC35C1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SLC35C1 Gene

Orthologs for SLC35C1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC35C1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC35C1 30 31
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC35C1 30 31
  • 91.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC35C1 30 31
  • 89.56 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC35C1 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc35c1 30 17 31
  • 85.4 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc35c1 30
  • 85.31 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC35C1 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC35C1 30 31
  • 77.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC35C1 31
  • 75 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc35c1 30
  • 72.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc35c1 30 31
  • 67.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002393 30
  • 59.32 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Gfr 30 31
  • 57.25 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea nstp-10 30 31
  • 54.3 (n)
OneToMany
nstp-9 31
  • 45 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1609 31
  • 46 (a)
OneToOne
Species where no ortholog for SLC35C1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for SLC35C1 Gene

ENSEMBL:
Gene Tree for SLC35C1 (if available)
TreeFam:
Gene Tree for SLC35C1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC35C1: view image

Paralogs for SLC35C1 Gene

genes like me logo Genes that share paralogs with SLC35C1: view

Variants for SLC35C1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC35C1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
646588 Uncertain Significance: Leukocyte adhesion deficiency type II 45,810,952(+) G/A MISSENSE_VARIANT
647679 Uncertain Significance: Leukocyte adhesion deficiency type II 45,811,265(+) G/T MISSENSE_VARIANT
648641 Uncertain Significance: Leukocyte adhesion deficiency type II 45,810,994(+) C/G MISSENSE_VARIANT
649048 Uncertain Significance: Leukocyte adhesion deficiency type II 45,811,130(+) A/G MISSENSE_VARIANT
653454 Uncertain Significance: Leukocyte adhesion deficiency type II 45,811,143(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SLC35C1 Gene

Variation tolerance for SLC35C1 Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.51; 71.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC35C1 Gene

Human Gene Mutation Database (HGMD)
SLC35C1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC35C1 Gene

Disorders for SLC35C1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SLC35C1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

FUCT1_HUMAN
  • Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in 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. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. {ECO:0000269 PubMed:11326279, ECO:0000269 PubMed:11326280}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with SLC35C1: view

No data available for Genatlas for SLC35C1 Gene

Publications for SLC35C1 Gene

  1. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. (PMID: 11326279) Lühn K … Vestweber D (Nature genetics 2001) 2 3 4
  2. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. (PMID: 11326280) Lübke T … Körner C (Nature genetics 2001) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6. (PMID: 31266804) Talbot BE … Schlondorff JS (The Journal of biological chemistry 2019) 3

Products for SLC35C1 Gene

Sources for SLC35C1 Gene