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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC35D1 Gene

protein-coding   GIFtS: 54
GCID: GC01M067465

solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine...

 Explore 2 diseases affiliated with
SLC35D1 via our new
 Human Malady Compendium 
Biological research products
for SLC35D1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Solute Carrier Family 35 (UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Dual
Transporter), Member D11 2
     UDP-GlcA/UDP-GalNAc Transporter2 3
UGTREL71 2 3 5     UDP-Galactose Transporter-Related 72
KIAA02601 3 5     UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter2
Solute Carrier Family 35 Member D12 3     UGTrel73
UDP-Galactose Transporter-Related Protein 72 3     

External Ids:    HGNC: 208001   Entrez Gene: 231692   Ensembl: ENSG000001167047   OMIM: 6108045   UniProtKB: Q9NTN33   

Export aliases for SLC35D1 gene to outside databases

Previous GC identifers: GC01M066822 GC01M066839 GC01M067181 GC01M065573


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SLC35D1:
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)

UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC35D1 gene promoter:
         HOXA9B   HOXA9   GR   AML1a   YY1   GATA-1   Egr-2   POU2F1   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC35D1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC35D1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC35D1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32-p31   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p32-p31

SLC35D1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC35D1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M067465:  view genomic region     (about GC identifiers)

Start:
67,465,015 bp from pter      End:
67,520,080 bp from pter
Size:
55,066 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3 (See protein sequence)
Recommended Name: UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter  
Size: 355 amino acids; 39240 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA13390.1; Type=Erroneous initiation;
Secondary accessions: A8K185 Q52LU5 Q92548

Explore the universe of human proteins at neXtProt for SLC35D1: NX_Q9NTN3

SLC35D1 Protein expression data from MOPED and PaxDb:    About this image 
SLC35D1 Protein Expression

REFSEQ proteins: NP_055954.1  
ENSEMBL proteins: 
 ENSP00000235345   ENSP00000445189  
Reactome Protein details: Q9NTN3
Human Recombinant Protein Products for SLC35D1: 
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Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn Proteins for SLC35D1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral to membrane ----
GO:0030176integral to endoplasmic reticulum membrane NAS--

SLC35D1 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for SLC35D1


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SLC35D1 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR004853 DUF250

Graphical View of Domain Structure for InterPro Entry Q9NTN3

ProtoNet protein and cluster: Q9NTN3

UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3
Similarity: Belongs to the TPT transporter family. SLC35D subfamily


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: S35D1_HUMAN, Q9NTN3
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): 2 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005461UDP-glucuronic acid transmembrane transporter activity TAS--
GO:0005463UDP-N-acetylgalactosamine transmembrane transporter activity NAS--
     
SLC35D1 for ontologies           About GeneDecksing


Phenotypes:
     6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc35d1):
 craniofacial  digestive/alimentary  growth/size  limbs/digits/tail  mortality/aging 
 skeleton 

SLC35D1 for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-out Slc35d1tm1Hko for SLC35D1
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SLC35D1 

miRNA
Products:
    
OriGene 3'-UTR Clone: SLC35D1
Browse MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC35D1
8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC35D1 (see all 60):
hsa-miR-579 hsa-miR-200a hsa-let-7a-2* hsa-miR-301a hsa-miR-3921 hsa-miR-519a hsa-miR-548l hsa-miR-508-3p
SwitchGear 3'UTR luciferase reporter plasmidSLC35D1 3' UTR sequence
Inhib. RNA
Products:
    
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC35D1 (see all 7)
OriGene shRNA RFP: SLC35D1
OriGene siRNA: SLC35D1
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Sirion Biotech Custom design and validation of potent shRNA sequences against SLC35D1 

Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of SLC35D1 
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Clone
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC35D1 (see all 3)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC35D1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC35D1 

Cell Line
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Sirion Biotech Customized inducible overexpressing cell line services for SLC35D1

In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC35D1


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1SLC-mediated transmembrane transport
SLC-mediated transmembrane transport1.00
Transmembrane transport of small molecules0.50
2Biological oxidations
Biological oxidations1.00
Phase II conjugation0.52
3Formation of the active cofactor, UDP-glucuronate
Formation of the active cofactor, UDP-glucuronate1.00
4Transport of nucleotide sugars
Transport of nucleotide sugars1.00
5Metabolism
Metabolism1.00

Pathway sources
See GeneCards unified pathways
Show all pathways


5/9        Reactome Pathways for SLC35D1 (see all 9)
    Formation of the active cofactor, UDP-glucuronate
Metabolism
Glucuronidation
SLC-mediated transmembrane transport
Transmembrane transport of small molecules



SLC35D1 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC35D1

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

5 Interacting proteins for SLC35D1 (Q9NTN33 ENSP000002353454) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
HRASP011123I2D: score=1 
NOTCH2Q047213I2D: score=1 
ROS1P089223I2D: score=1 
UGDHENSP000003195014STRING: ENSP00000319501
NOTCH1ENSP000002775414STRING: ENSP00000277541
About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006065UDP-glucuronate biosynthetic process TAS--
GO:0006805xenobiotic metabolic process TAS--
GO:0008643carbohydrate transport IEA--
GO:0015787UDP-glucuronic acid transport TAS--
GO:0015789UDP-N-acetylgalactosamine transport NAS--

SLC35D1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SLC35D1

1 HMDB Compound for SLC35D1    About this table
CompoundSynonyms CAS #PubMed Ids
N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
Search CenterWatch for drugs/clinical trials and news about SLC35D1 / S35D1 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SLC35D1 gene: 
NM_015139.2  

Unigene Cluster for SLC35D1:

Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1
Hs.213642  [show with all ESTs]
Unigene Representative Sequence: NM_015139
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000235345(uc001ddk.2) ENST00000506472(uc010oph.2)

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLC35D1
8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate SLC35D1 (see all 60):
hsa-miR-579 hsa-miR-200a hsa-let-7a-2* hsa-miR-301a hsa-miR-3921 hsa-miR-519a hsa-miR-548l hsa-miR-508-3p
SwitchGear 3'UTR luciferase reporter plasmidSLC35D1 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SLC35D1 (see all 7)
OriGene shRNA RFP: SLC35D1
OriGene siRNA: SLC35D1
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC35D1
Sirion Biotech Custom design and validation of potent shRNA sequences against SLC35D1 
Clone
Products:
     
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SLC35D1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SLC35D1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
GenScript: all cDNA clones in your preferred vector: SLC35D1 (NM_015139)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLC35D1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SLC35D1 
Primer
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OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SLC35D1
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SLC35D1
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SLC35D1
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC35D1

Additional cDNA sequence: 

AB044343.1 AK289800.1 AK296449.1 AK316023.1 BC093786.1 BC112031.1 D87449.1 

4 DOTS entries:

DT.415317  DT.121404262  DT.99999807  DT.95259928 

24/93 AceView cDNA sequences (see all 93):

H58655 AA813741 BE768536 AL704508 BM312279 AI870253 CA421646 AL047860 
BX956812 BG618903 BU630050 T39967 AI081976 AA010294 NM_015139 AI769637 
AW293577 N76960 T39720 BX952394 BF223212 D87449 BM998011 BQ001392 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SLC35D1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAAATTATGT
SLC35D1 Expression
About this image

SLC35D1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell 
Tissue Anatomical Compartment CellCategory (developmental path)
BoneZeugopod Epiphyseal EndChondrocytesBone, Cartilage
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

See SLC35D1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SLC35D1

SOURCE GeneReport for Unigene cluster: Hs.213642

UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3
Tissue specificity: Ubiquitous

    SABiosciences Custom PCR Arrays for SLC35D1
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SLC35D1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC35D1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC35D1 gene from 7/27 species (see all 27)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves SLC35D11 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine more 77.68(n)
84.2(a)
  424703  XM_422532.3  XP_422532.3 
lizard
(Anolis carolinensis)
Reptilia SLC35D16
--
93(a)
1 ↔ 1
GL343410.1(113714-132622)
zebrafish
(Danio rerio)
Actinopterygii zgc636512 hypothetical protein MGC63651 73.24(n)   393447  BC055186.1 
fruit fly
(Drosophila melanogaster)
Insecta frc1 fringe connection 56.92(n)
53.13(a)
  39943  NM_079402.2  NP_524126.1 
worm
(Caenorhabditis elegans)
Secernentea sqv-71 Protein SQV-7 58.14(n)
53.82(a)
  174145  NM_063035.4  NP_495436.1 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G322721 UDP-sugar transporter-like protein 45.38(n)
31.23(a)
  5008177  NM_001085010.1  NP_001078479.1 
rice
(Oryza sativa)
Liliopsida Os02g06141001 hypothetical protein 45.69(n)
33.92(a)
  4329973  NM_001053957.1  NP_001047422.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for SLC35D1 gene
SLC35D32  SLC35D22  
1 SIMAP similar gene for SLC35D1 using alignment to 2 protein entries:     S35D1_HUMAN (see all proteins):
SLC35D2

SLC35D1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/993 NCBI SNPs in SLC35D1 are shown (see all 993    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs171295781,2
C,F,H--65574253(+) AGGTAA/CAAACT 1 -- ut3113Minor allele frequency- C:0.06NA NS EA WA 1352
rs171295801,2
C--65574273(+) TTAACT/CGAATT 1 -- ut313Minor allele frequency- C:0.01NA 142
rs171295811,2
C--65575347(+) TCTCCC/TACTCA 1 -- ut31 ese3 trp35Minor allele frequency- T:0.01NA 144
rs766091301,2
C--65575831(+) GGTCTC/GACTTA 1 -- ut312Minor allele frequency- G:0.03NA 122
rs615876081,2
C--65576144(+) GGTTAG/ATGGCT 1 -- ut313Minor allele frequency- A:0.09WA NA 240
rs413127401,2
C--65576568(+) ATTATG/CAACTA 1 -- ut311Minor allele frequency- C:0.50NA 2
rs112089861,2
C,F,H--65576848(+) GAGAGT/CAAGAC 1 -- ut31 ese310Minor allele frequency- C:0.17NS EA NA CSA WA 795
rs765769421,2
F--65576950(+) AGCTTG/ATAACT 1 -- ut311Minor allele frequency- A:0.04WA 118
rs66728911,2
C,H--65577099(+) TAGGTC/TAACAG 1 -- ut31 ese36Minor allele frequency- T:0.00NS EA NA 424
rs413027681,2
F--65577788(+) ATTTGC/TGGCTT 1 -- ut311Minor allele frequency- T:0.02NA 120

HapMap Linkage Disequilibrium report for SLC35D1 (67465015 - 67520080 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for SLC35D1: --
Human Gene Mutation Database (HGMD): SLC35D1

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC35D1
DNA2.0 Custom Variant and Variant Library Synthesis for SLC35D1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SLC35D1 for disorders           About GeneDecksing

OMIM gene information: 610804   
OMIM disorders: 269250  
UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3
  • Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]. Schneckenbecken dysplagia
  • is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia

    2 diseases for SLC35D1:    About MalaCards
    schneckenbecken dysplasia    choroiditis

    1 disease from the University of Copenhagen DISEASES database for SLC35D1:
    Osteochondrodysplasia
    Human Genome Epidemiology (HuGE) Navigator: SLC35D1 (1 document)

    Export disorders for SLC35D1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC35D1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with SLC35D1)
        Utopia: connect your pdf to the dynamic
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    1. Molecular characterization of human UDP-glucuronic acid/UDP-N- acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity. (PubMed id 11322953)1, 2, 3 Muraoka M.... Ishida N. (2001)
    2. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. (PubMed id 17952091)1, 2, 9 Hiraoka S....Ikegawa S. (2007)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
    6. Identification of loss-of-function mutations of SLC35 D1 in patients with Schneckenbecken dysplasia, but not with other severe spondy lodysplastic dysplasias group diseases. (PubMed id 19508970)1, 9 Furuichi T....Ikegawa S. (2009)
    7. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Molecular mechanism of phase I and phase II drug-metabolizing enzymes: implications for detoxification. (PubMed id 17482904)1 Iyanagi T. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23169 HGNC: 20800 AceView: SLC35D1 Ensembl:ENSG00000116704 euGenes: HUgn23169
    ECgene: SLC35D1 H-InvDB: SLC35D1

    (According to HUGE)
    About This Section
    HUGE: KIAA0260

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC35D1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC35D1 gene:
    Search GeneIP for patents involving SLC35D1

    GeneCards and IP:
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