SLC35D1 Gene (Protein Coding)

Solute Carrier Family 35 Member D1

GC01M066999
GIFtS:
40
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 t... See more...

Aliases for SLC35D1 Gene

Aliases for SLC35D1 Gene

  • Solute Carrier Family 35 Member D1 2 3 4 5
  • UGTREL7 2 3 4
  • 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-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter 3 4
  • UDP-Galactose Transporter-Related Protein 7 3 4
  • UDP-GlcA/UDP-GalNAc Transporter 3 4
  • KIAA0260 2 4
  • UDP-Galactose Transporter-Related 7 3
  • SLC35D1 5
  • UGTrel7 4
  • SHNKND 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 Member D1) is a Protein Coding gene. Diseases associated with SLC35D1 include Schneckenbecken Dysplasia and Boomerang Dysplasia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for SLC35D1 Gene

Genomics for SLC35D1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC35D1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J067052 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.9 +1.5 1509 4.2 HNRNPL GATAD2A PRDM10 ZNF629 ZNF692 POLR2A BACH1 TARDBP FOXA1 LARP7 SLC35D1 C1orf141 ENSG00000252433 DNAI4 MN308949 MIER1
GH01J066329 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 +720.3 720286 9.3 SP1 PRDM10 ZNF629 POLR2A BACH1 FOXA1 LARP7 STAT3 PRDM1 ZNF143 PDE4B MIER1 SLC35D1 HSALNG0004217 piR-61289-003 SGIP1
GH01J067058 Enhancer 1 Ensembl ENCODE 11.3 -5.6 -5586 3.6 ZIC2 ZNF740 SP1 CEBPA SOX13 CEBPB ZNF766 JUND NFE2 FOS SLC35D1 piR-32023-007 IL23R
GH01J066929 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5 +122.0 121952 6.9 PRDM10 ZNF629 ZNF512 IKZF1 KDM1A POLR2A BACH1 LARP7 PRDM1 ZNF143 MIER1 DNAI4 TCTEX1D1 SLC35D1 MN308949
GH01J067165 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 5.9 -112.3 -112329 2.3 SP1 BACH1 STAT3 RELA TCF12 IKZF2 TRIM22 YY1 PKNOX1 EED IL23R C1orf141 SLC35D1 piR-39341-005 piR-32810-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC35D1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC35D1

Top Transcription factor binding sites by QIAGEN in the SLC35D1 gene promoter:
  • AML1a
  • Egr-2
  • GATA-1
  • GR
  • GR-alpha
  • HOXA9
  • HOXA9B
  • POU2F1
  • POU2F1a
  • YY1

Genomic Locations for SLC35D1 Gene

Genomic Locations for SLC35D1 Gene
chr1:66,999,350-67,054,423
(GRCh38/hg38)
Size:
55,074 bases
Orientation:
Minus strand
chr1:67,465,015-67,520,080
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for SLC35D1 Gene

Proteins for SLC35D1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC35D1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC35D1 Gene

Protein Expression for SLC35D1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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:

Suggested Antigen Peptide Sequences for SLC35D1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51485, highly similar to UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (B7Z3X2_HUMAN)
  • UDP-galactose transporter-related protein 7 (S35D1_HUMAN)

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 IBA 21873635
GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity IBA 21873635
GO:0005463 UDP-N-acetylgalactosamine transmembrane transporter activity IBA 21873635
GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity IEA,IBA 21873635
GO:0015297 antiporter activity IBA 21873635
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35D1

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 4
golgi apparatus 4
plasma membrane 3
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 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:0005794 Golgi apparatus IBA 21873635
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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000235345 Q9NTN3-S35D1_HUMAN for SLC35D1 Gene via STRING IID

GPS-Prot Interaction Network for SLC35D1

Gene Ontology (GO) - Biological Process for SLC35D1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006065 UDP-glucuronate biosynthetic process TAS --
GO:0008643 carbohydrate transport IEA --
GO:0015787 UDP-glucuronic acid transmembrane transport IEA --
GO:0015789 UDP-N-acetylgalactosamine transmembrane transport IEA --
GO:0030206 chondroitin sulfate biosynthetic process 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

Products:

  1. Drug

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N-Acetylgalactosamine
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
 1811-31-0
genes like me logo Genes that share compounds with SLC35D1: view

Transcripts for SLC35D1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SLC35D1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35D1

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

No ASD Table

Relevant External Links for SLC35D1 Gene

GeneLoc Exon Structure for
SLC35D1

Expression for SLC35D1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC35D1 Gene

mRNA expression in normal human tissues for SLC35D1 Gene
mRNA expression by BioGPS for SLC35D1 GenemRNA expression by GTEx 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 and MOPED for SLC35D1 Gene



Protein tissue co-expression partners for SLC35D1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Nervous system(4.2)
  • Bone marrow(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
Regions:
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

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 30 31
  • 99.53 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC35D1 31
  • 98 (a)
 OneToOne
LOC100685241 30
  • 95.49 (n)
Cow
(Bos Taurus)
 Mammalia SLC35D2 31
  • 97 (a)
 OneToOne
SLC35D1 30
  • 95.31 (n)
Mouse
(Mus musculus)
 Mammalia Slc35d1 30 17 31
  • 92.81 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc35d1 30
  • 91.08 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC35D1 31
  • 83 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC35D1 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC35D1 30 31
  • 77.84 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC35D1 31
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100497699 30
  • 78.75 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc35d1a 30 31
  • 71.84 (n)
 OneToMany
slc35d1b 31
  • 64 (a)
 OneToMany
zgc63651 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005200 30
  • 58.22 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta frc 30 31
  • 56.5 (n)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea sqv-7 30 31
  • 57.49 (n)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G32272 30
  • 47 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0614100 30
  • 45.69 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 58 (a)
 OneToMany
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.1995 30
Species where no ortholog for SLC35D1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC35D1: view image

Paralogs for SLC35D1 Gene

Paralogs for SLC35D1 Gene

(1) SIMAP similar genes for SLC35D1 Gene using alignment to 2 proteins:

  • S35D1_HUMAN
  • B7Z3X2_HUMAN
genes like me logo Genes that share paralogs with SLC35D1: view

Variants for SLC35D1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC35D1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1125 Pathogenic: Schneckenbecken dysplasia 67,047,264(-) C/A SPLICE_DONOR_VARIANT
1127 Pathogenic: Schneckenbecken dysplasia 67,052,009(-) T/C INTRON_VARIANT
642827 Uncertain Significance: Schneckenbecken dysplasia 67,052,794(-) G/A MISSENSE_VARIANT
661129 Uncertain Significance: Schneckenbecken dysplasia 67,049,807(-) T/C MISSENSE_VARIANT
662949 Uncertain Significance: Schneckenbecken dysplasia 67,020,409(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC35D1 Gene

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)

Additional Variant Information 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

(14) MalaCards diseases for SLC35D1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schneckenbecken dysplasia
  • shnknd
boomerang dysplasia
  • boomd
achondrogenesis
  • achondrogenesis syndrome
atelosteogenesis
  • atelosteogenesis, type 1
eiken syndrome
  • eiken skeletal dysplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

S35D1_HUMAN
  • Schneckenbecken dysplasia (SHNKND) [MIM:269250]: A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period. {ECO:0000269 PubMed:17952091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC35D1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 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 letters 2001) 2 3 4
  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 41
  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 23
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4

ExternalLinks

View latest publications for SLC35D1 gene in Mastermind

Products for SLC35D1 Gene

Sources for SLC35D1 Gene