SLC35A1 | ENSG00000164414 | NCBI 10559

Details for: SLC35A1

Gene ID: 10559

Symbol: SLC35A1

Ensembl ID: ENSG00000164414

Description: solute carrier family 35 member A1

Associated with

Asparagine n-linked glycosylation
(R-HSA-446203)
Biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, llo) and transfer to a nascent protein
(R-HSA-446193)
Defective slc35a1 causes congenital disorder of glycosylation 2f (cdg2f)
(R-HSA-5663020)
Disease
(R-HSA-1643685)
Disorders of transmembrane transporters
(R-HSA-5619115)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Sialic acid metabolism
(R-HSA-4085001)
Slc-mediated transmembrane transport
(R-HSA-425407)
Slc transporter disorders
(R-HSA-5619102)
Synthesis of substrates in n-glycan biosythesis
(R-HSA-446219)
Transport of nucleotide sugars
(R-HSA-727802)
Transport of small molecules
(R-HSA-382551)
Transport of vitamins, nucleosides, and related molecules
(R-HSA-425397)
Antiporter activity
(GO:0015297)
Carbohydrate metabolic process
(GO:0005975)
Carbohydrate transport
(GO:0008643)
Cmp-n-acetylneuraminate transmembrane transport
(GO:0015782)
Cmp-n-acetylneuraminate transmembrane transporter activity
(GO:0005456)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
Membrane
(GO:0016020)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Protein modification process
(GO:0036211)

Other Information

Proteins

Solute carrier family 35 member A1

Genular Protein ID: 1622829133

Symbol: S35A1_HUMAN

Name: Solute carrier family 35 member A1

UniProtKB Accession Codes:

P78382 Q5W1L8

Database IDs:

Citations:

PubMed ID: 9010752

Title: Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family.

PubMed ID: 9010752

DOI: 10.1093/oxfordjournals.jbchem.a021523

PubMed ID: 15576474

Title: Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.

PubMed ID: 15576474

DOI: 10.1182/blood-2004-09-3509

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12682060

Title: Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters.

PubMed ID: 12682060

DOI: 10.1074/jbc.m302620200

PubMed ID: 30985278

Title: Structural basis for mammalian nucleotide sugar transport.

PubMed ID: 30985278

DOI: 10.7554/elife.45221

PubMed ID: 23873973

Title: Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.

PubMed ID: 23873973

DOI: 10.1212/wnl.0b013e3182a08f53

PubMed ID: 28856833

Title: Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

PubMed ID: 28856833

DOI: 10.1002/ajmg.a.38412

Sequence Information:

Length: 337
Mass: 36779
Checksum: 508DD77F5EEBB5A7
Sequence:

MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI TEVIKLLLSV 
GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV QNNMAFLALS NLDAAVYQVT 
YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM LCAGVTLVQW KPAQATKVVV EQNPLLGFGA 
IAIAVLCSGF AGVYFEKVLK SSDTSLWVRN IQMYLSGIIV TLAGVYLSDG AEIKEKGFFY 
GYTYYVWFVI FLASVGGLYT SVVVKYTDNI MKGFSAAAAI VLSTIASVML FGLQITLTFA 
LGTLLVCVSI YLYGLPRQDT TSIQQGETAS KERVIGV

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: SLC35A1

Associated with

Other Information

Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family. PubMed ID: 9010752

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. PubMed ID: 15576474

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters. PubMed ID: 12682060

Structural basis for mammalian nucleotide sugar transport. PubMed ID: 30985278

Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport. PubMed ID: 23873973

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. PubMed ID: 28856833