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Aliases for SLC35D1 Gene

Aliases for SLC35D1 Gene

  • Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter), Member D1 2 3
  • UGTREL7 3 4 6
  • Solute Carrier Family 35 (UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Dual Transporter), Member D1 2 3
  • UDP-Galactose Transporter-Related Protein 7 3 4
  • Solute Carrier Family 35 Member D1 3 4
  • UDP-GlcA/UDP-GalNAc Transporter 3 4
  • KIAA0260 4 6
  • UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter 3
  • UDP-Galactose Transporter-Related 7 3

External Ids for SLC35D1 Gene

Previous GeneCards Identifiers for SLC35D1 Gene

  • GC01M066822
  • GC01M066839
  • GC01M067181
  • GC01M067465
  • GC01M065573

Summaries for SLC35D1 Gene

Entrez Gene Summary for SLC35D1 Gene

  • 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]

GeneCards Summary for SLC35D1 Gene

SLC35D1 (Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter), Member D1) is a Protein Coding gene. Diseases associated with SLC35D1 include schneckenbecken dysplasia. Among its related pathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include UDP-glucuronic acid transmembrane transporter activity and UDP-N-acetylgalactosamine transmembrane transporter activity. An important paralog of this gene is SLC35D2.

UniProtKB/Swiss-Prot for SLC35D1 Gene

  • Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC35D1 Gene

Genomics for SLC35D1 Gene

Regulatory Elements for SLC35D1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC35D1 Gene

Start:
66,999,332 bp from pter
End:
67,054,397 bp from pter
Size:
55,066 bases
Orientation:
Minus strand

Genomic View for SLC35D1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC35D1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35D1 Gene

Proteins for SLC35D1 Gene

  • Protein details for SLC35D1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTN3-S35D1_HUMAN
    Recommended name:
    UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter
    Protein Accession:
    Q9NTN3
    Secondary Accessions:
    • A8K185
    • B7Z3X2
    • Q52LU5
    • Q92548

    Protein attributes for SLC35D1 Gene

    Size:
    355 amino acids
    Molecular mass:
    39240 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA13390.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC35D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35D1 Gene

Proteomics data for SLC35D1 Gene at MOPED

Post-translational modifications for SLC35D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35D1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC35D1 Gene

Domains for SLC35D1 Gene

Protein Domains for SLC35D1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NTN3

UniProtKB/Swiss-Prot:

S35D1_HUMAN :
  • Q9NTN3
Family:
  • Belongs to the TPT transporter family. SLC35D subfamily.
genes like me logo Genes that share domains with SLC35D1: view

Function for SLC35D1 Gene

Molecular function for SLC35D1 Gene

UniProtKB/Swiss-Prot Function: Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis

Gene Ontology (GO) - Molecular Function for SLC35D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005461 UDP-glucuronic acid transmembrane transporter activity TAS --
GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity --
genes like me logo Genes that share ontologies with SLC35D1: view
genes like me logo Genes that share phenotypes with SLC35D1: view

Animal Models for SLC35D1 Gene

MGI Knock Outs for SLC35D1:

Animal Model Products

CRISPR Products

miRNA for SLC35D1 Gene

miRTarBase miRNAs that target SLC35D1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC35D1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC35D1 Gene

Localization for SLC35D1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35D1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC35D1 Gene COMPARTMENTS Subcellular localization image for SLC35D1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
peroxisome 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC35D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35D1: view

Pathways for SLC35D1 Gene

genes like me logo Genes that share pathways with SLC35D1: view

Interacting Proteins for SLC35D1 Gene

Gene Ontology (GO) - Biological Process for SLC35D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006065 UDP-glucuronate biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008643 carbohydrate transport IEA --
GO:0015781 pyrimidine nucleotide-sugar transport --
GO:0015787 UDP-glucuronic acid transport TAS --
genes like me logo Genes that share ontologies with SLC35D1: view

Compounds for SLC35D1 Gene

(1) HMDB Compounds for SLC35D1 Gene

Compound Synonyms Cas Number PubMed IDs
N-Acetylgalactosamine
  • 2-Acetamido-2-desoxy-b-D-talofuranose
1811-31-0
genes like me logo Genes that share compounds with SLC35D1: view

Transcripts for SLC35D1 Gene

mRNA/cDNA for SLC35D1 Gene

Unigene Clusters for SLC35D1 Gene

Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC35D1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35D1 Gene

No ASD Table

Relevant External Links for SLC35D1 Gene

GeneLoc Exon Structure for
SLC35D1
ECgene alternative splicing isoforms for
SLC35D1

Expression for SLC35D1 Gene

mRNA expression in normal human tissues for SLC35D1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC35D1 Gene

This gene is overexpressed in Liver (6.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for SLC35D1 Gene

SOURCE GeneReport for Unigene cluster for SLC35D1 Gene Hs.213642

mRNA Expression by UniProt/SwissProt for SLC35D1 Gene

Q9NTN3-S35D1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with SLC35D1: view

In Situ Assay Products

Orthologs for SLC35D1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC35D1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC35D1 35
  • 99.53 (n)
  • 100 (a)
SLC35D1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC35D1 35
  • 95.31 (n)
  • 97.46 (a)
SLC35D2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC100685241 35
  • 95.49 (n)
  • 97.75 (a)
SLC35D1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc35d1 35
  • 92.81 (n)
  • 97.06 (a)
Slc35d1 16
Slc35d1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC35D1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35D1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc35d1 35
  • 91.08 (n)
  • 96.92 (a)
chicken
(Gallus gallus)
Aves SLC35D1 35
  • 77.84 (n)
  • 83.95 (a)
SLC35D1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC35D1 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497699 35
  • 78.75 (n)
  • 83.29 (a)
zebrafish
(Danio rerio)
Actinopterygii slc35d1a 35
  • 71.84 (n)
  • 79.4 (a)
slc35d1a 36
  • 77 (a)
OneToMany
slc35d1b 36
  • 64 (a)
OneToMany
zgc63651 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005200 35
  • 58.22 (n)
  • 57.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta frc 35
  • 56.5 (n)
  • 52.2 (a)
frc 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sqv-7 35
  • 57.49 (n)
  • 53.44 (a)
sqv-7 36
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32272 35
  • 47 (n)
  • 33.57 (a)
rice
(Oryza sativa)
Liliopsida Os02g0614100 35
  • 45.69 (n)
  • 33.92 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1995 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for SLC35D1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC35D1 Gene

ENSEMBL:
Gene Tree for SLC35D1 (if available)
TreeFam:
Gene Tree for SLC35D1 (if available)

Paralogs for SLC35D1 Gene

Paralogs for SLC35D1 Gene

Selected SIMAP similar genes for SLC35D1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC35D1: view

Variants for SLC35D1 Gene

Sequence variations from dbSNP and Humsavar for SLC35D1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs975451 -- 67,014,377(+) actta(C/T)gaata intron-variant
rs975452 -- 67,014,507(+) gtcta(A/T)gtgta intron-variant
rs1018546 -- 67,052,457(+) ATAAG(C/T)CCAAA intron-variant
rs1024228 -- 67,047,012(+) AACAC(A/G)CTTTA intron-variant
rs1024229 -- 67,047,220(+) GACAT(G/T)CCAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC35D1 Gene

Variant ID Type Subtype PubMed ID
nsv461751 CNV Loss 19166990
nsv506932 CNV Insertion 20534489

Relevant External Links for SLC35D1 Gene

HapMap Linkage Disequilibrium report
SLC35D1
Human Gene Mutation Database (HGMD)
SLC35D1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC35D1 Gene

Disorders for SLC35D1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SLC35D1 Gene including...

Search for SLC35D1 Gene in MalaCards »

(1) OMIM Diseases for SLC35D1 Gene (610804)

UniProtKB/Swiss-Prot

S35D1_HUMAN
  • Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]: Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. {ECO:0000269 PubMed:17952091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC35D1 Gene

Relevant External Links for SLC35D1

Genetic Association Database (GAD)
SLC35D1
Human Genome Epidemiology (HuGE) Navigator
SLC35D1
genes like me logo Genes that share disorders with SLC35D1: view

Publications for SLC35D1 Gene

  1. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. (PMID: 17952091) Hiraoka S. … Ikegawa S. (Nat. Med. 2007) 3 4 23
  2. Molecular characterization of human UDP-glucuronic acid/UDP-N- acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity. (PMID: 11322953) Muraoka M. … Ishida N. (FEBS Lett. 2001) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. (PMID: 19508970) Furuichi T. … Ikegawa S. (J. Med. Genet. 2009) 3 23

Products for SLC35D1 Gene

  • antibodies-online peptides for SLC35D1
  • antibodies-online antibodies for SLC35D1
  • antibodies-online kits for SLC35D1

Sources for SLC35D1 Gene

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