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

SLC35D1 Gene

protein-coding   GIFtS: 57
GCID: GC01M067465

Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter),...

(Previous names: solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter), Member
D11 2
     UDP-GlcA/UDP-GalNAc Transporter2 3
UGTREL72 3 5     KIAA02603 5
Solute Carrier Family 35 (UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine
Dual Transporter), Member D11 2
     UDP-Galactose Transporter-Related 72
Solute Carrier Family 35 Member D12 3     UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter2
UDP-Galactose Transporter-Related Protein 72 3     UGTrel73

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 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, and osteochondrodysplasia, and among its related super-pathways are Phase II conjugation and Transmembrane transport of small molecules. GO annotations related to this gene include UDP-N-acetylgalactosamine transmembrane transporter activity and UDP-glucuronic acid transmembrane transporter activity. An important paralog of this gene is SLC35D3.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SLC35D1 at MOPED 

SLC35D1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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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Novus Biologicals SLC35D1 Proteins
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Browse Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for SLC35D1 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum ----
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral to membrane ----
GO:0030176integral to endoplasmic reticulum membrane NAS--

SLC35D1 for ontologies           About GeneDecksing



SLC35D1 Antibody Products: 
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Cloud-Clone Corp. CLIAs for SLC35D1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
SLC: Solute carriers

IUPHAR Guide to PHARMACOLOGY protein family classification: UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter 
SLC35 family of nucleotide sugar transporters

1 InterPro protein domain:
 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


SLC35D1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 3 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--
GO:0015165pyrimidine nucleotide-sugar transmembrane transporter activity ----
     
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:
     MGI mouse knock-out Slc35d1tm1Hko for SLC35D1

   inGenious Targeting Laboratory - Custom generated mouse model solutions for SLC35D1 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLC35D1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC35D1 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC35D1 

miRNA
Products:
    
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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Gene Editing
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Clone
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OriGene ORF clones in mouse, rat for SLC35D1
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                     Customized lentivirus expression plasmids for stable overexpression of SLC35D1 

Cell Line
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GenScript Custom overexpressing Cell Line Services for SLC35D1
Search LifeMap BioReagents cell lines 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, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for SLC35D1 About   (see all 7)                                                                                              See pathways by source

SuperPathContained pathways About
1Biological oxidations
Biological oxidations0.55
Phase II conjugation0.55
2SLC-mediated transmembrane transport
SLC-mediated transmembrane transport0.50
Transmembrane transport of small molecules0.50
3Glucuronidation
Glucuronidation0.67
4Metabolism
Metabolism0.40
5Transport of organic anions
Transport of vitamins, nucleosides, and related molecules0.34

Pathways by source                                                                                                                                                                 See SuperPaths
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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006065UDP-glucuronate biosynthetic process TAS--
GO:0006805xenobiotic metabolic process TAS--
GO:0008643carbohydrate transport IEA--
GO:0015781pyrimidine nucleotide-sugar transport ----
GO:0015787UDP-glucuronic acid transport TAS--

SLC35D1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (S35D1)

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 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, 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, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLC35D1
Clone
Products:
     
OriGene clones in human, mouse for SLC35D1 (see all 7)
OriGene ORF clones in 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
Sirion Biotech Customized lentivirus for stable overexpression of SLC35D1 
                     Customized lentivirus expression plasmids for stable overexpression of SLC35D1 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for SLC35D1
OriGene qSTAR qPCR primer pairs in human, mouse for SLC35D1
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 mRNA 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):

BQ001392 BX952394 T39720 BU630050 AI769637 AW058632 BE768536 AI799671 
BX956812 BM312279 BU619019 BF223212 AL704508 AA813741 N76960 AA010293 
NM_015139 H58655 AW293577 CD655458 AW294334 AI081976 BG618903 AB044343 

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)      SLC35D1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAAATTATGT
SLC35D1 Expression
About this image


SLC35D1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/6 selected tissues (see all 6) fully expand
 
 Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
         sigmoid colon mucosa   
 
 Bone (Muscoskeletal System)
         Chondrocytes Zeugopod Epiphyseal End
 
 Chorion (Extraembryonic Tissues)
         chorion villus cells   
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
 
 Cartilage (Muscoskeletal System)
         Chondrocytes Zeugopod Epiphyseal End

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 QuantiTect SYBR Green Assays in human, mouse, rat SLC35D1
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 8/17 species (see all 17)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Slc35d11 , 5 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine more1, 5 92.81(n)1
97.06(a)1
  4 (47.43 cM)5
2425851  NM_177732.41  NP_808400.11 
 1031706495 
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
Uncharacterized protein
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, 4UniProtKB, 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

10/1150 SNPs in SLC35D1 are shown (see all 1150)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1378531111,2
Cpathogenic167547554(-) CACGTA/GGACAA 2 * W stg10--------
rs2012421011,2
C--65581031(+) GTATTG/TGAAAA 1 -- int10--------
rs797903311,2
C--65581032(+) TATTGA/GAAAAA 1 -- int11Minor allele frequency- G:0.00CSA 1
rs3729812901,2
C--65581823(+) AAGGA-/GATGTA 1 -- int10--------
rs30484711,2
C--65584039(+) AGGTT-/CA    
   G
/CGG
GAGAA
2 -- cds1 trp31NA 2
rs675286231,2
C--65584040(+) GGTTG-/CGGAGAAA 1 -- cds10--------
rs602036611,2
C--65586269(+) CCTTT-/ATCTTT
        
GTCTT
1 -- int10--------
rs671291431,2
C--65586886(+) AAATCAAA/-AAAAA 1 -- cds11Minor allele frequency- -:0.50NA 2
rs115767491,2
C,F,H--65596065(+) ACACAC/GACACA 1 -- int15Minor allele frequency- G:0.40NA CSA 10
rs115767521,2
C,F,H--65596071(+) ACACAC/GACACA 1 -- int15Minor allele frequency- G:0.30NA CSA 10

HapMap Linkage Disequilibrium report for SLC35D1 (67465015 - 67520080 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SLC35D1:    About this table     
Variant IDTypeSubtypePubMed ID
nsv506932CNV Insertion20534489
nsv461751CNV Loss19166990


Human Gene Mutation Database (HGMD): SLC35D1
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 610804   
OMIM disorders: 269250  
UniProtKB/Swiss-Prot: S35D1_HUMAN, Q9NTN3
  • Schneckenbecken dysplasia (SCHBCKD) [MIM:269250]: Rare, autosomal recessive, lethal short-limbed skeletal
    dysplasia with platyspondylia. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 5 diseases for SLC35D1:    About MalaCards
    schneckenbecken dysplasia    osteochondrodysplasia    skeletal dysplasias    choroiditis
    crohn's disease

    1 disease from the University of Copenhagen DISEASES database for SLC35D1:
    Osteochondrodysplasia

    SLC35D1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLC35D1
    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
    world of online information

    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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    5. 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)
    6. 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)
    7. 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)
    8. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    9. 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)
    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)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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