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Aliases for SLC35D1 Gene

Aliases for SLC35D1 Gene

  • Solute Carrier Family 35 Member D1 2 3 4 5
  • Solute Carrier Family 35 (UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Dual Transporter), Member D1 2 3
  • Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter), Member D1 2 3
  • UDP-Galactose Transporter-Related Protein 7 3 4
  • UDP-GlcA/UDP-GalNAc Transporter 3 4
  • UGTREL7 3 4
  • UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter 3
  • UDP-Galactose Transporter-Related 7 3
  • KIAA0260 4

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 Member D1) is a Protein Coding gene. Diseases associated with SLC35D1 include Schneckenbecken Dysplasia and Fibrochondrogenesis. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. GO annotations related to this gene include UDP-glucuronic acid transmembrane transporter activity and pyrimidine nucleotide-sugar 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 into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity).

Additional gene information for SLC35D1 Gene

No data available for CIViC summary , 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

Enhancers for SLC35D1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H067052 1.1 ENCODE 11.9 +0.8 816 2 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766 SLC35D1 WDR78
GH01H067060 1.1 Ensembl ENCODE 11.3 -6.5 -6544 1 FOXA2 ZNF766 FOS ZBTB11 CEBPB HDAC8 ZNF592 MEF2D ZNF589 CEBPA SLC35D1 GC01P067080
GH01H066329 1.6 FANTOM5 ENCODE dbSUPER 5.1 +720.3 720261 9 HDGF PKNOX1 SIN3A FEZF1 YY1 ZNF143 ZNF207 ATF7 RUNX3 JUNB PDE4B MIER1 SLC35D1 GC01P066323 GC01P066373
GH01H066401 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +651.7 651683 1 HDGF CTCF TBL1XR1 BACH1 MAX BMI1 EBF1 BATF RELA POLR2A SLC35D1 LOC105378776 GC01P066373
GH01H066929 1.4 ENCODE dbSUPER 5 +121.9 121927 6 HDGF PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF416 ZNF143 ZNF207 WDR78 TCTEX1D1 MIER1 SLC35D1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC35D1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC35D1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008162 897 2601 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for SLC35D1 Gene

Chromosome:
1
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

Genes around SLC35D1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35D1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC35D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35D1 Gene

Post-translational modifications for SLC35D1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35D1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC35D1 Gene

Domains & Families for SLC35D1 Gene

Gene Families for SLC35D1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC35D1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NTN3

UniProtKB/Swiss-Prot:

S35D1_HUMAN :
  • Belongs to the TPT transporter family. SLC35D subfamily.
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 into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity).

Phenotypes From GWAS Catalog for SLC35D1 Gene

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 IBA --
genes like me logo Genes that share ontologies with SLC35D1: view
genes like me logo Genes that share phenotypes with SLC35D1: view

Human Phenotype Ontology for SLC35D1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC35D1 Gene

MGI Knock Outs for SLC35D1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC35D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC35D1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC35D1 Gene

Pathways & Interactions for SLC35D1 Gene

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

Pathways by source for SLC35D1 Gene

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:0006810 transport IEA --
GO:0008643 carbohydrate transport IEA --
GO:0015787 UDP-glucuronic acid transport IEA --
GO:0090481 pyrimidine nucleotide-sugar transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC35D1: view

No data available for SIGNOR curated interactions for SLC35D1 Gene

Drugs & Compounds for SLC35D1 Gene

(1) Additional Compounds for SLC35D1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-Acetamido-2-deoxy-a-D-allopyranose
  • 2-Acetamido-2-deoxy-a-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-D-allopyranose
  • 2-Acetamido-2-deoxy-alpha-D-glucopyranose
  • 2-Acetamido-2-deoxy-alpha-delta-allopyranose
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SLC35D1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.0).

Protein differential expression in normal tissues from HIPED for SLC35D1 Gene

This gene is overexpressed in Liver (42.7) and Fetal Liver (25.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SLC35D1 Gene



Protein tissue co-expression partners for SLC35D1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC35D1 Gene:

SLC35D1

SOURCE GeneReport for Unigene cluster for SLC35D1 Gene:

Hs.213642

mRNA Expression by UniProt/SwissProt for SLC35D1 Gene:

Q9NTN3-S35D1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for SLC35D1 Gene

  • Liver(4.3)
  • Bone marrow(4.1)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35D1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • face
  • forehead
  • head
  • jaw
  • maxilla
  • mouth
  • neck
  • nose
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • lymph node
  • lymph vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SLC35D1: view

Primer 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 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia SLC35D1 34
  • 98 (a)
OneToOne
LOC100685241 33
  • 95.49 (n)
cow
(Bos Taurus)
Mammalia SLC35D2 34
  • 97 (a)
OneToOne
SLC35D1 33
  • 95.31 (n)
mouse
(Mus musculus)
Mammalia Slc35d1 33 16 34
  • 92.81 (n)
rat
(Rattus norvegicus)
Mammalia Slc35d1 33
  • 91.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC35D1 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC35D1 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC35D1 33 34
  • 77.84 (n)
lizard
(Anolis carolinensis)
Reptilia SLC35D1 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497699 33
  • 78.75 (n)
zebrafish
(Danio rerio)
Actinopterygii slc35d1a 33 34
  • 71.84 (n)
slc35d1b 34
  • 64 (a)
OneToMany
zgc63651 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005200 33
  • 58.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta frc 33 34
  • 56.5 (n)
worm
(Caenorhabditis elegans)
Secernentea sqv-7 33 34
  • 57.49 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G32272 33
  • 47 (n)
rice
(Oryza sativa)
Liliopsida Os02g0614100 33
  • 45.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 58 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1995 33
Species where no ortholog for SLC35D1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs137853111 Pathogenic 67,009,112(-) CACGT(A/G)GACAA nc-transcript-variant, reference, stop-gained
rs267607062 Pathogenic 67,053,821(-) TGCTC(A/C/G)CCAAT nc-transcript-variant, reference, missense
rs267607063 Pathogenic 67,052,776(-) TACCT(C/G/T)GAAAG nc-transcript-variant, reference, missense
rs372640176 Uncertain significance 67,004,422(+) TGATA(C/T)AGGAA nc-transcript-variant, reference, missense
rs199880356 Benign 67,050,507(+) AGCTG(-/G)AAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv461751 CNV loss 19166990
nsv506932 OTHER sequence alteration 20534489
nsv546445 CNV loss 21841781

Variation tolerance for SLC35D1 Gene

Residual Variation Intolerance Score: 28.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.10; 75.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC35D1 Gene

Human Gene Mutation Database (HGMD)
SLC35D1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35D1

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

Disorders for SLC35D1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC35D1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schneckenbecken dysplasia
  • chondrodysplasia lethal neonatal with snail like pelvis
fibrochondrogenesis
  • fbcg1
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC35D1

Genetic Association Database (GAD)
SLC35D1
Human Genome Epidemiology (HuGE) Navigator
SLC35D1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC35D1
genes like me logo Genes that share disorders with SLC35D1: view

No data available for Genatlas for SLC35D1 Gene

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 (Nature medicine 2007) 3 4 22 60
  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 letters 2001) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. 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 (Journal of medical genetics 2009) 3 22 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60

Products for SLC35D1 Gene

Sources for SLC35D1 Gene

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