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    Slc35d1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 [ Mus musculus (house mouse) ]

    Gene ID: 242585, updated on 9-May-2024

    Summary

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    Official Symbol
    Slc35d1provided by MGI
    Official Full Name
    solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1provided by MGI
    Primary source
    MGI:MGI:2140361
    See related
    Ensembl:ENSMUSG00000028521 AllianceGenome:MGI:2140361
    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
    UGTREL7; mKIAA0260; C330011J09
    Summary
    Enables pyrimidine nucleotide-sugar transmembrane transporter activity. Acts upstream of or within chondroitin sulfate biosynthetic process; embryonic skeletal system development; and pyrimidine nucleotide-sugar transmembrane transport. Located in endoplasmic reticulum. Is expressed in several structures, including brain; cardiovascular system; gallbladder; gut; and reproductive system. Used to study schneckenbecken dysplasia. Human ortholog(s) of this gene implicated in schneckenbecken dysplasia. Orthologous to human SLC35D1 (solute carrier family 35 member D1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver adult (RPKM 5.4), limb E14.5 (RPKM 3.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc35d1 in Genome Data Viewer
    Location:
    4 C6; 4 47.43 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (103027846..103078208, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (103170649..103222269, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene insulin-like 5 Neighboring gene dynein axonemal intermediate chain 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:102737628-102737949 Neighboring gene MEIR1 treanscription regulator Neighboring gene STARR-seq mESC enhancer starr_10936 Neighboring gene RIKEN cDNA 4921539E11 gene Neighboring gene STARR-seq mESC enhancer starr_10938 Neighboring gene STARR-seq mESC enhancer starr_10939 Neighboring gene RIKEN cDNA 4930456L15 gene Neighboring gene predicted gene, 36523

    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
    • 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. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Hiraoka S, et al. Nat Med, 2007 Nov. PMID 17952091
    2. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficient mice develop a lethal form of skeletal dysplasia with severe shortening of limbs and facial structures.
      Title: Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0260

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables UDP-N-acetylgalactosamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucuronic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables antiporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyrimidine nucleotide-sugar transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within chondroitin sulfate biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleotide-sugar transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within pyrimidine nucleotide-sugar transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyrimidine nucleotide-sugar transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nucleotide sugar transporter SLC35D1
    Names
    UDP-GlcA/UDP-GalNAc transporter
    UDP-galactose transporter-related protein 7
    UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
    solute carrier family 35 member D1

    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_001356276.1 → NP_001343205.1  nucleotide sugar transporter SLC35D1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AK049180, AK049462, AK140305, BY782314, CO039020
      UniProtKB/Swiss-Prot
      A2AKQ0, Q3TE90, Q5DU40, Q8BKX2, Q8BX24
      UniProtKB/TrEMBL
      A0A217FL58
      Related
      ENSMUSP00000037617.7, ENSMUST00000036195.13
      Conserved Domains (1) summary
      COG5070
      Location:49 → 329
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

    2. NM_177732.5 → NP_808400.1  nucleotide sugar transporter SLC35D1 isoform 2

      See identical proteins and their annotated locations for NP_808400.1

      Status: VALIDATED

      Source sequence(s)
      AK049180, AK049462, AK140305, CO039020
      Consensus CDS
      CCDS18409.1
      UniProtKB/TrEMBL
      A0A217FL58
      Related
      ENSMUSP00000122124.2, ENSMUST00000150285.8
      Conserved Domains (1) summary
      COG5070
      Location:49 → 240
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

    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
      103027846..103078208 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503079.5 → XP_006503142.1  nucleotide sugar transporter SLC35D1 isoform X1

      UniProtKB/TrEMBL
      A0A217FL58
      Conserved Domains (1) summary
      COG5070
      Location:49 → 303
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

    RNA

    1. XR_004941897.1 RNA Sequence

    2. XR_004941898.1 RNA Sequence

    3. XR_376320.5 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A2AKQ0.2 GenPept UniProtKB/Swiss-Prot:A2AKQ0

    Gene LinkOut

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

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