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Aliases for SLC35C1 Gene

Aliases for SLC35C1 Gene

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

External Ids for SLC35C1 Gene

Previous GeneCards Identifiers for SLC35C1 Gene

  • GC00U913330
  • GC11P045791
  • GC11P045792
  • GC11P045783
  • GC11P045532
  • GC11P045826

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 Leukocyte Adhesion Deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC35C1 Gene

Genomics for SLC35C1 Gene

Regulatory Elements for SLC35C1 Gene

Enhancers for SLC35C1 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 SLC35C1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC35C1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC35C1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC35C1 Gene

Chromosome:
11
Start:
45,804,072 bp from pter
End:
45,813,016 bp from pter
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

Proteomics data for SLC35C1 Gene at MOPED

Post-translational modifications for SLC35C1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35C1 Gene

Antibody Products

No data available for DME Specific Peptides for SLC35C1 Gene

Domains & Families for SLC35C1 Gene

Gene Families for SLC35C1 Gene

Protein Domains for SLC35C1 Gene

InterPro:
ProtoNet:

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SLC35C1 Gene COMPARTMENTS Subcellular localization image for SLC35C1 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SLC35C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
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

Gene Ontology (GO) - Biological Process for SLC35C1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015783 GDP-fucose transport TAS --
GO:0030259 lipid glycosylation IEA --
GO:0055085 transmembrane transport TAS --
GO:0098779 mitophagy in response to mitochondrial depolarization IGI 22020285
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

Unigene Clusters for SLC35C1 Gene

Solute carrier family 35, member C1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SLC35C1

Expression for SLC35C1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for SLC35C1 Gene



SOURCE GeneReport for Unigene cluster for SLC35C1 Gene Hs.12211

genes like me logo Genes that share expression patterns with SLC35C1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia SLC35C1 35
  • 89.56 (n)
  • 89.84 (a)
SLC35C1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC35C1 35
  • 91.12 (n)
  • 92.86 (a)
SLC35C1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35c1 35
  • 85.4 (n)
  • 87.88 (a)
Slc35c1 16
Slc35c1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC35C1 35
  • 99.15 (n)
  • 99.15 (a)
SLC35C1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35c1 35
  • 85.31 (n)
  • 88.15 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC35C1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35C1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35C1 35
  • 77.41 (n)
  • 77.41 (a)
SLC35C1 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35C1 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc35c1 35
  • 72.39 (n)
  • 72.85 (a)
zebrafish
(Danio rerio)
Actinopterygii slc35c1 35
  • 67.68 (n)
  • 70.82 (a)
slc35c1 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002393 35
  • 59.32 (n)
  • 56.23 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gfr 35
  • 57.25 (n)
  • 50.93 (a)
Gfr 36
  • 49 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nstp-10 35
  • 54.3 (n)
  • 60.38 (a)
nstp-10 36
  • 54 (a)
OneToMany
nstp-9 36
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1609 36
  • 46 (a)
OneToOne
Species with no ortholog for SLC35C1:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for SLC35C1 Gene

No data available for Paralogs for SLC35C1 Gene

Variants for SLC35C1 Gene

Sequence variations from dbSNP and Humsavar for SLC35C1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs28939087 Congenital disorder of glycosylation 2C (CDG2C) 45,806,240(+) TGGGC(C/T)GCTCA reference, missense
VAR_012348 Congenital disorder of glycosylation 2C (CDG2C)
rs11538193 - 45,805,947(+) CTACT(C/G)GGTCA reference, missense
rs7130656 - 45,810,958(+) CCTGC(A/G)TCCTC reference, missense
rs7127456 -- 45,810,744(+) TCCTC(A/G)CCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC35C1 Gene

Variant ID Type Subtype PubMed ID
nsv897314 CNV Loss 21882294
nsv897315 CNV Loss 21882294

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)

Relevant External Links for SLC35C1 Gene

Human Gene Mutation Database (HGMD)
SLC35C1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC35C1 Gene

Disorders for SLC35C1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC35C1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iic
  • leukocyte adhesion deficiency, type ii
leukocyte adhesion deficiency
  • leukocyte adhesion deficiency, type iii
parietal foramina 1
  • parietal foramina
congenital disorder of glycosylation, type in
  • congenital disorder of glycosylation
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC35C1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC35C1
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) Luehn K. … Vestweber D. (Nat. Genet. 2001) 2 3 4 67
  2. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. (PMID: 11326280) Luebke T. … Koerner C. (Nat. Genet. 2001) 2 3
  3. A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc. (PMID: 25239688) Cagdas D. … Sanal O. (J. Clin. Immunol. 2014) 3
  4. FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer. (PMID: 23730929) Villar-Portela S. … FernA!ndez-Briera A. (Histopathology 2013) 3
  5. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. (PMID: 24144296) Cheng C.Y. … Baird P.N. (Am. J. Hum. Genet. 2013) 3

Products for SLC35C1 Gene

Sources for SLC35C1 Gene

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