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    Slc35a1 solute carrier family 35 (CMP-sialic acid transporter), member 1 [ Mus musculus (house mouse) ]

    Gene ID: 24060, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Slc35a1provided by MGI
    Official Full Name
    solute carrier family 35 (CMP-sialic acid transporter), member 1provided by MGI
    Primary source
    MGI:MGI:1345622
    See related
    Ensembl:ENSMUSG00000028293 AllianceGenome:MGI:1345622
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CST; CMP-SA-Tr; CMP-Sia-Tr
    Summary
    Enables CMP-N-acetylneuraminate transmembrane transporter activity and antiporter activity. Involved in CMP-N-acetylneuraminate biosynthetic process and CMP-N-acetylneuraminate transmembrane transport. Located in Golgi membrane. Is expressed in several structures, including genitourinary system; liver; lung; retina; and spleen. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation type IIf. Orthologous to human SLC35A1 (solute carrier family 35 member A1). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in colon adult (RPKM 7.9), bladder adult (RPKM 4.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc35a1 in Genome Data Viewer
    Location:
    4 A5; 4 16.86 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (34663257..34688113, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (34663257..34688113, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:34497692-34497879 Neighboring gene akirin 2 Neighboring gene STARR-seq mESC enhancer starr_09912 Neighboring gene origin recognition complex, subunit 3 Neighboring gene arginyl-tRNA synthetase 2, mitochondrial Neighboring gene STARR-positive B cell enhancer ABC_E6160 Neighboring gene cilia and flagella associated protein 206 Neighboring gene STARR-seq mESC enhancer starr_09914 Neighboring gene STARR-seq mESC enhancer starr_09915 Neighboring gene predicted gene 136

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice. Zuo B, et al. Cell Mol Gastroenterol Hepatol, 2024. PMID 38467191, Free PMC Article
    2. Membrane topology of the mammalian CMP-sialic acid transporter. Eckhardt M, et al. J Biol Chem, 1999 Mar 26. PMID 10085119
    3. Targeting the expression of functional murine CMP-sialic acid transporter to the E. coli inner membrane. Maggioni A, et al. Biochem Biophys Res Commun, 2007 Oct 26. PMID 17764658
    4. The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi. Ury B, et al. J Biol Chem, 2021 Jan-Jun. PMID 34015330, Free PMC Article
    5. Expression cloning of the Golgi CMP-sialic acid transporter. Eckhardt M, et al. Proc Natl Acad Sci U S A, 1996 Jul 23. PMID 8755516, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice.
      Title: Endothelial Slc35a1 Deficiency Causes Loss of LSEC Identity and Exacerbates Neonatal Lipid Deposition in the Liver in Mice.
    2. Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
      Title: Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.
    3. Detailed visualization of extensive protein-substrate interactions explains the mechanisms governing substrate selectivity. Further structural analysis of mCST's unique lumen-facing partially-occluded conformation, coupled with the characterization of substrate-induced quenching of mCST's intrinsic tryptophan fluorescence, reveals the concerted conformational transitions that occur during substrate transport.
      Title: Structural basis for mammalian nucleotide sugar transport.
    4. analysis of the functional murine CMP-sialic acid transporter expressed in the E. coli inner membrane
      Title: Targeting the expression of functional murine CMP-sialic acid transporter to the E. coli inner membrane.
    5. CMP-sialic acid transporter is localized in the medial-trans Golgi
      Title: The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables CMP-N-acetylneuraminate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CMP-N-acetylneuraminate transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables antiporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CMP-N-acetylneuraminate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in CMP-N-acetylneuraminate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in CMP-N-acetylneuraminate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in CMP-N-acetylneuraminate transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    CMP-sialic acid transporter
    Names
    solute carrier family 35 member A1

    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.

    mRNA and Protein(s)

    1. NM_001424928.1 → NP_001411857.1  CMP-sialic acid transporter isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL928738

    2. NM_001424930.1 → NP_001411859.1  CMP-sialic acid transporter isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL928738

    3. NM_001424931.1 → NP_001411860.1  CMP-sialic acid transporter isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL928738

    4. NM_001424932.1 → NP_001411861.1  CMP-sialic acid transporter isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL928738

    5. NM_001424933.1 → NP_001411862.1  CMP-sialic acid transporter isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL928738

    6. NM_011895.4 → NP_036025.2  CMP-sialic acid transporter isoform 3

      See identical proteins and their annotated locations for NP_036025.2

      Status: VALIDATED

      Source sequence(s)
      AL928738
      Consensus CDS
      CCDS18030.1
      UniProtKB/Swiss-Prot
      A2AT44, Q61420
      Related
      ENSMUSP00000029970.8, ENSMUST00000029970.14
      Conserved Domains (1) summary
      pfam04142
      Location:8 → 314
      Nuc_sug_transp; Nucleotide-sugar transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      34663257..34688113 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006537892.4 → XP_006537955.1  CMP-sialic acid transporter isoform X2

      Conserved Domains (1) summary
      pfam04142
      Location:8 → 335
      Nuc_sug_transp; Nucleotide-sugar transporter

    RNA

    1. XR_001784138.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61420.2 GenPept UniProtKB/Swiss-Prot:Q61420

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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