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

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: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (45804072..45813016)
RS_2023_10	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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.
Title: In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.
Congenital disorders of glycosylation with defective fucosylation.
Title: Congenital disorders of glycosylation with defective fucosylation.
Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway.
Title: Down-regulation of SLC35C1 induces colon cancer through over-activating Wnt pathway.
two Turkish siblings with a novel mutation in GDP-fucose transporter and features of congenital disorder of glycosylation IIc
Title: A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.
Fx enzyme and GDP-L-Fuc Tr overexpression in the tumur tissue of colorectal cancer (CRC) patients suggests that GDP-L-Fuc transport to the Golgi apparatus may be an important factor associated with increased alpha(1,6)fucosylation in CRC.
Title: FX enzyme and GDP-L-Fuc transporter expression in colorectal cancer.
In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. (Review)
Title: Hematologically important mutations: leukocyte adhesion deficiency (first update).
the conserved glycine residues at positions 180 and 277 of SLC35C1 have significant impacts on lectin binding
Title: Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant.
the upregulation of GDP-Fuc Tr plays a pivotal role in increased fucosylation in hepatocellular carcinoma
Title: A high expression of GDP-fucose transporter in hepatocellular carcinoma is a key factor for increases in fucosylation.
In the GDP-fucose transporter a new single nucleotide deletion produced an open-reading frame shift & polypeptide truncation. Overexpression of the mutant protein in fibroblasts did not rescue fucosylation. The deletion ablated transporter activity.
Title: Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene.
Leukocyte adhesion deficiency II patients display dual defect in functoin ang Golgi expression of FUCT1.
Title: Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leukocyte adhesion deficiency type II MedGen: C0398739 OMIM: 266265 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

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 EBI GWAS CatalogPubMed
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11570 (e-PCR)
- UniSTS:46396

RH64851 (e-PCR)
- UniSTS:52408

RH121568 (e-PCR)
- UniSTS:134340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GDP-fucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
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

Process	Evidence Code	Pubs
involved_in GDP-fucose import into Golgi lumen	IBA Inferred from Biological aspect of Ancestor more info
involved_in GDP-fucose import into Golgi lumen	IDA Inferred from Direct Assay more info	PubMed
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

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: GDP-fucose transporter 1

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

NCBI Reference Sequences (RefSeq)

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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

NG_009875.1 RefSeqGene

Range

5001..13945

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_107

mRNA and Protein(s)

NM_001145265.2 → NP_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:26 → 207

TPT; Triose-phosphate Transporter family
NM_001145266.2 → NP_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)

AC044839

Consensus CDS

CCDS44575.1

UniProtKB/Swiss-Prot

Q96A29

Related

ENSP00000432145.2, ENST00000526817.2

Conserved Domains (1) summary

pfam03151
Location:26 → 207

TPT; Triose-phosphate Transporter family
NM_001425155.1 → NP_001412084.1 GDP-fucose transporter 1 isoform a

Status: REVIEWED

Source sequence(s)

AC044839

UniProtKB/Swiss-Prot

B2RDB2, Q96A29, Q9BV76, Q9NUJ8

UniProtKB/TrEMBL

B3KQH0
NM_001425156.1 → NP_001412085.1 GDP-fucose transporter 1 isoform b

Status: REVIEWED

Source sequence(s)

AC044839
NM_018389.5 → NP_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

B2RDB2, Q96A29, Q9BV76, Q9NUJ8

UniProtKB/TrEMBL

B3KQH0

Related

ENSP00000313318.3, ENST00000314134.4

Conserved Domains (1) summary

cl23754
Location:42 → 183

EamA; EamA-like transporter family