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

Gene ID: 55343, updated on 13-Mar-2020

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
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

Genomic context

See SLC35C1 in Genome Data Viewer
Location:
11p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (45804072..45813016)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45825623..45834568)

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 cryptochrome circadian regulator 2 Neighboring gene mitogen-activated protein kinase 8 interacting protein 1 Neighboring gene Sharpr-MPRA regulatory region 10000

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

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA 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
GDP-fucose transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP-fucose transmembrane transporter activity TAS
Traceable Author Statement
more info
 
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
GDP-fucose import into Golgi lumen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
lipid glycosylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein O-linked fucosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
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)

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
    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
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011520203.3XP_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_011520202.2XP_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
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