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    SLC35C1 solute carrier family 35 member C1 [ Homo sapiens (human) ]

    Gene ID: 55343, updated on 23-Sep-2022

    Summary

    Official Symbol
    SLC35C1provided by HGNC
    Official Full Name
    solute carrier family 35 member C1provided by HGNC
    Primary source
    HGNC:HGNC:20197
    See related
    Ensembl:ENSG00000181830 MIM:605881; AllianceGenome:HGNC:20197
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDG2C; FUCT1
    Summary
    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]
    Expression
    Ubiquitous expression in esophagus (RPKM 13.7), small intestine (RPKM 9.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC35C1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45804072..45813016)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (45960038..45968982)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45825623..45834567)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2690 Neighboring gene long intergenic non-protein coding RNA 2716 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:45882374-45883573 Neighboring gene cryptochrome circadian regulator 2 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 Neighboring gene uncharacterized LOC124902668

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ11320, FLJ14841

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-fucose transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GDP-fucose transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GDP-fucose transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    enables antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in GDP-fucose import into Golgi lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in GDP-fucose import into Golgi lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked fucosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    GDP-fucose transporter 1
    Names
    solute carrier family 35 (GDP-fucose transporter), member C1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009875.1 RefSeqGene

      Range
      5001..13945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_107

    mRNA and Protein(s)

    1. NM_001145265.2NP_001138737.1  GDP-fucose transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001138737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' splice pattern and downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AK002182, BC001427
      Consensus CDS
      CCDS44575.1
      UniProtKB/Swiss-Prot
      Q96A29
      Related
      ENSP00000412408.2, ENST00000442528.2
      Conserved Domains (1) summary
      pfam03151
      Location:26207
      TPT; Triose-phosphate Transporter family
    2. NM_001145266.1NP_001138738.1  GDP-fucose transporter 1 isoform b

      See identical proteins and their annotated locations for NP_001138738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' splice pattern and downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AL547030, BC001427, DB287838
      Consensus CDS
      CCDS44575.1
      UniProtKB/Swiss-Prot
      Q96A29
      Related
      ENSP00000432145.2, ENST00000526817.2
      Conserved Domains (1) summary
      pfam03151
      Location:26207
      TPT; Triose-phosphate Transporter family
    3. NM_018389.5NP_060859.4  GDP-fucose transporter 1 isoform a

      See identical proteins and their annotated locations for NP_060859.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK074929, AK315473, BC001427
      Consensus CDS
      CCDS7914.1
      UniProtKB/Swiss-Prot
      Q96A29, Q9NUJ8
      UniProtKB/TrEMBL
      B3KQH0
      Related
      ENSP00000313318.3, ENST00000314134.4
      Conserved Domains (1) summary
      cl23754
      Location:42183
      EamA; EamA-like transporter family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      45804072..45813016
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520203.4XP_011518505.1  GDP-fucose transporter 1 isoform X2

      Related
      ENSP00000432669.1, ENST00000530471.1
      Conserved Domains (1) summary
      pfam03151
      Location:39179
      TPT; Triose-phosphate Transporter family
    2. XM_011520202.3XP_011518504.1  GDP-fucose transporter 1 isoform X1

      See identical proteins and their annotated locations for XP_011518504.1

      Conserved Domains (1) summary
      cl22888
      Location:89170
      EamA; EamA-like transporter family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      45960038..45968982
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)