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SLC35D1 solute carrier family 35 member D1 [ Homo sapiens (human) ]

Gene ID: 23169, updated on 10-Dec-2019

Summary

Official Symbol
SLC35D1provided by HGNC
Official Full Name
solute carrier family 35 member D1provided by HGNC
Primary source
HGNC:HGNC:20800
See related
Ensembl:ENSG00000116704 MIM:610804
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SHNKND; UGTREL7
Summary
Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in liver (RPKM 14.1), colon (RPKM 11.9) and 24 other tissues See more
Orthologs

Genomic context

See SLC35D1 in Genome Data Viewer
Location:
1p31.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (66999350..67054423, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (67465015..67520080, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene WD repeat domain 78 Neighboring gene MIER1 transcriptional regulator Neighboring gene chromosome 1 open reading frame 141 Neighboring gene interleukin 23 receptor Neighboring gene RNA, U6 small nuclear 586, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Schneckenbecken dysplasia
MedGen: C0432194 OMIM: 269250 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Formation of the active cofactor, UDP-glucuronate, organism-specific biosystem (from REACTOME)
    Formation of the active cofactor, UDP-glucuronate, organism-specific biosystemGlucose 1-phosphate and UTP are the precursors to UDP-glucuronate formation. After oxidation of the resultant complex, UDP-glucuronate is transported to the ER lumen.
  • Glucuronidation, organism-specific biosystem (from REACTOME)
    Glucuronidation, organism-specific biosystemGlucuronidation conjugation utilizes UDP-glucuronosyltransferases (UGTs; EC 2.4.1.17) to catalyze a wide range of diverse endogenous and xenobiotic compounds. Glucuronidation is the major pathway in ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Phase II conjugation, organism-specific biosystem (from REACTOME)
    Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of nucleotide sugars, organism-specific biosystem (from REACTOME)
    Transport of nucleotide sugars, organism-specific biosystemNucleotide sugars are used as sugar donors by glycosyltransferases to create the sugar chains for glycoconjugates such as glycoproteins, polysaccharides and glycolipids. Glycosyltransferases reside m...
  • Transport of vitamins, nucleosides, and related molecules, organism-specific biosystem (from REACTOME)
    Transport of vitamins, nucleosides, and related molecules, organism-specific biosystemThis pathway groups the processes mediated by SLC transporters, by which vitamins and cofactors, as well as nucleosides, nucleotides, nucleobases, and related molecules cross lipid bilayer membranes.

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0260, MGC138236

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-N-acetylgalactosamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-N-acetylglucosamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-glucuronic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyrimidine nucleotide-sugar transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
UDP-N-acetylgalactosamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
UDP-N-acetylglucosamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
UDP-glucuronate biosynthetic process TAS
Traceable Author Statement
more info
 
UDP-glucuronic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
chondroitin sulfate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
embryonic skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
Names
UDP-GlcA/UDP-GalNAc transporter
UDP-galactose transporter-related 7
UDP-galactose transporter-related protein 7
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012933.1 RefSeqGene

    Range
    5250..60048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015139.3NP_055954.1  UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter

    See identical proteins and their annotated locations for NP_055954.1

    Status: REVIEWED

    Source sequence(s)
    AK289800, BQ001392, BU619019, BU679620, CA391890, D87449
    Consensus CDS
    CCDS636.1
    UniProtKB/Swiss-Prot
    Q9NTN3
    Related
    ENSP00000235345.5, ENST00000235345.6
    Conserved Domains (1) summary
    COG5070
    Location:49329
    VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    66999350..67054423 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710478.2XP_006710541.1  UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter isoform X1

    See identical proteins and their annotated locations for XP_006710541.1

    Conserved Domains (1) summary
    COG5070
    Location:49356
    VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
  2. XM_011541070.2XP_011539372.1  UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter isoform X1

    See identical proteins and their annotated locations for XP_011539372.1

    Conserved Domains (1) summary
    COG5070
    Location:49356
    VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]

RNA

  1. XR_001737057.2 RNA Sequence

  2. XR_001737058.2 RNA Sequence

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