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SLC35A1 Membrane Protein Introduction

Introduction of SLC35A1

SLC35A1 is encoded by the SLC35A1 gene which is located on 6q16.1. The mutations of the gene are related to the congenital disorder of glycosylation 2F (CDG2F), a severe inherited disease characterized by under-glycosylated serum proteins. It belongs to the nucleotide-sugar transporter family which is responsible for the membrane transport of the nucleotide sugars synthesized in the cytoplasm and nucleus, and the glycosylation processes in the endoplasmic reticulum (ER) and Golgi apparatus. The molecular mass of SLC35A1 is about 36 KDa.

Basic Information of SLC35A1
Protein Name CMP-sialic acid transporter
Gene Name SLC35A1
Aliases CMP-SA-Tr, CMP-Sia-Tr, Solute carrier family 35 member A1
Organism Homo sapiens (Human)
UniProt ID P78382
Transmembrane Times Multi-pass membrane
Length (aa) 337
Sequence MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMAFLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAGVYFEKVLKSSDTSLWVRNIQMYLSGIIVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV

Function of SLC35A1 Membrane Protein

SLC35A1 is a Golgi apparatus membrane protein. The main function of SLC35A1 is to transport CMP-sialic acid, a donor substrate of sialyltransferases, from the cytosol into Golgi vesicles by coupling with the antiport of CMP. Besides, it also participates in carbohydrate metabolic process, cellular protein modification process and carbohydrate transport. SLC35A1 is ubiquitously expressed in human tissues where it localizes to the medial and transcisternae of the Golgi apparatus. It can supply CMP-sialic acid to sialyltransferases. Beyond that, SLC35A1 plays an essential role in the synthesis of the functional O-mannose glycan on α-dystroglycan, by a mechanism that is independent from sialylation. What’ s more, SLC35A1 defects may associate with the growing group of diseases that show overlap between the muscular dystrophy-dystroglycanopathy (MDDG) syndromes and an N-linked congenital disorder of glycosylation. It has been shown that mutations of SLC32A1 can cause encephalopathy, the patients with CMP-sialic acid transporter deficiency present with severe neurological phenotype.

SLC35A1 Membrane Protein Preparation Fig.1 Schematic representation of SLC35A1 in the glycosylation pathway (Nishihara, 2014).

Application of SLC35A1 Membrane Protein in Literature

  1. Ng B.G., et al. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. American Journal of Medical Genetics Part A. 2017. PubMed ID: 28856833

    Authors of this article focus on the mutations of SLC35A1. They identified rare compound heterozygous mutations, p.Thr156Arg and p.Glu196Lys, in SLC35A1. They find a patient with CMP-sialic acid transporter deficiency, who presented with severe neurological phenotype.

  2. Riemersma M., et al. Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid. Human Molecular Genetics. 2015, 24(8):2241. PubMed ID: 25552652

    The date of this article reveals that SLC35A1 plays a role in α-DG O-mannosylation that is distinct from sialic acid metabolism. SLC35A1 deficiency in human may be a combined disorder of α-DG O-mannosylation and sialylation, a novel variant of the muscular dystrophy-dystroglycanopathy syndromes.

  3. Mohamed M., et al. Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport. Neurology. 2013, 81(7):681-7. PubMed ID: 23873973

    To identify the genetic defect in a patient with intellectual disability. Authors of this article identify a mutation ofSLC35A1 which causes the intellectual disability. The article suggests the importance of sialylation for normal CNS development and regular organ function.

  4. Nishihara S. Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member A1 (SLC35A1). Springer Japan. 2014.

    This preview firstly introduces the function and a phylogenetic tree of SLC35A1. It also talks about the name and the history and some other aspects of the CMP-sialic acid transporter, SLC35A1. At last, it shows the future perspectives of the SLC35A1.

SLC35A1 Preparation Options

To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Besides, aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-SLC35A1 antibody development services.


As a forward-looking research institute as well as a leading custom service provider in the field of membrane protein, Creative Biolabs has won a good reputation among our worldwide customers for successfully accomplishing numerous challenging projects including generation of many functional membrane proteins. Please feel free to contact us for more information.

Reference

  1. Nishihara, S. (2014). Solute Carrier Family 35 (CMP-Sialic Acid Transporter), Member A1 (SLC35A1). Springer Japan.

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