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Aliases for SLC35C1 Gene

Aliases for SLC35C1 Gene

  • Solute Carrier Family 35 (GDP-Fucose Transporter), Member C1 2 3
  • FUCT1 3 4 6
  • Solute Carrier Family 35, Member C1 2 3
  • CDG2C 3 6
  • Solute Carrier Family 35 Member C1 4
  • GDP-Fucose Transporter 1 3

External Ids for SLC35C1 Gene

Previous GeneCards Identifiers for SLC35C1 Gene

  • GC00U913330
  • GC11P045791
  • GC11P045792
  • GC11P045783
  • GC11P045532

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 (GDP-Fucose Transporter), 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 of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC35C1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC35C1 Gene

Domains 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 :
  • Q96A29
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

Animal Models for SLC35C1 Gene

MGI Knock Outs for SLC35C1:

Animal Model Products

CRISPR Products

miRNA for SLC35C1 Gene

miRTarBase miRNAs that target SLC35C1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targeting 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 --
GO:0005794 Golgi apparatus IDA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35C1: view

Pathways 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:0002230 positive regulation of defense response to virus by host IMP 22020285
GO:0008643 carbohydrate transport IEA --
GO:0030259 lipid glycosylation IEA --
GO:0045746 negative regulation of Notch signaling pathway IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC35C1: view

Transcripts for SLC35C1 Gene

Unigene Clusters for SLC35C1 Gene

Solute carrier family 35, member C1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC35C1

Primer Products

Flow Cytometry 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
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 (9.6).

Integrated Proteomics: protein expression 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 expressions with SLC35C1: view

In Situ Assay Products

No data available for 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 35
  • 99.15 (n)
  • 99.15 (a)
SLC35C1 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SLC35C1 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35C1 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35c1 35
  • 85.31 (n)
  • 88.15 (a)
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 MAF
rs1139266 -- 45,811,384(+) CAGGC(A/G)GGGCC utr-variant-3-prime
rs1139267 -- 45,811,749(+) GGGGA(A/G)ATGGC utr-variant-3-prime
rs3808976 Benign 45,805,799(-) CATGG(C/T)AGCAG intron-variant, utr-variant-5-prime
rs4362111 -- 45,811,516(+) CAGAA(A/C)GTTGA utr-variant-3-prime
rs4756026 -- 45,812,409(+) TCCAG(C/T)GAGCT utr-variant-3-prime

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

Relevant External Links for SLC35C1 Gene

HapMap Linkage Disequilibrium report
SLC35C1
Human Gene Mutation Database (HGMD)
SLC35C1
Locus Specific Mutation Databases (LSDB)
SLC35C1

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

Disorders for SLC35C1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SLC35C1 Gene including...

Search for SLC35C1 Gene in MalaCards »

(1) OMIM Diseases for SLC35C1 Gene (605881)

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.

(2) University of Copenhagen DISEASES for SLC35C1 Gene

Relevant External Links for SLC35C1

GeneTests
SLC35C1
GeneReviews
SLC35C1
genes like me logo Genes that share disorders with SLC35C1: view

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
  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 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for SLC35C1 Gene

  • antibodies-online peptides for SLC35C1
  • antibodies-online antibodies for SLC35C1
  • antibodies-online kits for SLC35C1

Sources for SLC35C1 Gene

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