GDP-fucose transporter 1

Last updated
SLC35C1
Identifiers
Aliases SLC35C1 , CDG2C, FUCT1, solute carrier family 35 member C1
External IDs OMIM: 605881 MGI: 2443301 HomoloGene: 41258 GeneCards: SLC35C1
Orthologs
SpeciesHumanMouse
Entrez

55343

228368

Ensembl

ENSG00000181830

ENSMUSG00000049922

UniProt

Q96A29

Q8BLX4

RefSeq (mRNA)

NM_001145265
NM_001145266
NM_018389

NM_145832
NM_211358

RefSeq (protein)

NP_001138737
NP_001138738
NP_060859

NP_665831
NP_997597

Location (UCSC) Chr 11: 45.8 – 45.81 Mb Chr 2: 92.28 – 92.29 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

GDP-fucose transporter 1 is a protein that in humans is encoded by the SLC35C1 gene. [5] [6] [7]

Contents

Defects can be associated with Congenital disorder of glycosylation type IIc.

See also

Related Research Articles

A congenital disorder of glycosylation is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems in affected infants. The most common sub-type is PMM2-CDG where the genetic defect leads to the loss of phosphomannomutase 2 (PMM2), the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.

<span class="mw-page-title-main">Excitatory amino acid transporter 5</span> Protein found in humans

Excitatory amino-acid transporter 5 (EAAT5) is a protein that in humans is encoded by the SLC1A7 gene.

<span class="mw-page-title-main">JAM3</span> Protein-coding gene in the species Homo sapiens

Junctional adhesion molecule C is a protein that in humans is encoded by the JAM3 gene.

<span class="mw-page-title-main">SLC22A11</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 22 member 11 is a protein that in humans is encoded by the SLC22A11 gene.

<span class="mw-page-title-main">Urea transporter 1</span> Protein-coding gene in the species Homo sapiens

Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.

<span class="mw-page-title-main">PMM1</span> Protein-coding gene in the species Homo sapiens

Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene.

<span class="mw-page-title-main">Sodium bicarbonate transporter-like protein 11</span> Protein-coding gene in the species Homo sapiens

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

<span class="mw-page-title-main">SLC2A10</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 2, facilitated glucose transporter member 10 is a protein that in humans is encoded by the SLC2A10 gene.

<span class="mw-page-title-main">CMP-sialic acid transporter</span> Protein-coding gene in the species Homo sapiens

CMP-sialic acid transporter is a protein that in humans is encoded by the SLC35A1 gene.

<span class="mw-page-title-main">Large neutral amino acids transporter small subunit 2</span> Protein-coding gene in the species Homo sapiens

Large neutral amino acids transporter small subunit 2 is a protein that in humans is encoded by the SLC7A8 gene.

<span class="mw-page-title-main">ALG8</span> Protein-coding gene in the species Homo sapiens

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.

<span class="mw-page-title-main">MPDU1</span> Protein-coding gene in the species Homo sapiens

Mannose-P-dolichol utilization defect 1 protein is a protein that in humans is encoded by the MPDU1 gene.

<span class="mw-page-title-main">Sodium-dependent phosphate transport protein 2B</span> Protein-coding gene in the species Homo sapiens

Sodium-dependent phosphate transport protein 2B (NaPi2b) is a protein that in humans is encoded by the SLC34A2 gene.

<span class="mw-page-title-main">ALG12</span> Enzyme-coding gene in humans

Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene.

<span class="mw-page-title-main">UDP-xylose and UDP-N-acetylglucosamine transporter</span> Protein-coding gene in the species Homo sapiens

UDP-xylose and UDP-N-acetylglucosamine transporter is a protein that in humans is encoded by the SLC35B4 gene.

<span class="mw-page-title-main">SLC13A2</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 13 member 2 is a protein that is encoded in humans by the SLC13A2 gene.

<span class="mw-page-title-main">ALG1</span> Protein-coding gene in the species Homo sapiens

Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure and function has been conserved from lower to higher organisms.

<span class="mw-page-title-main">TSTA3</span> Protein-coding gene in the species Homo sapiens

GDP-L-fucose synthetase is an enzyme that in humans is encoded by the TSTA3 gene.

<span class="mw-page-title-main">SLC6A18</span> Protein-coding gene in the species Homo sapiens

Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the SLC6A18 gene.

<span class="mw-page-title-main">Congenital disorder of glycosylation type IIc</span> Medical condition

Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000181830 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049922 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D (Apr 2001). "The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter". Nat Genet. 28 (1): 69–72. doi:10.1038/88289. PMID   11326279.
  6. ↑ Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C (Apr 2001). "Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency". Nat Genet. 28 (1): 73–6. doi:10.1038/88299. PMID   11326280.
  7. ↑ "Entrez Gene: SLC35C1 solute carrier family 35, member C1".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.