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SLC14A1 Gene

protein-coding   GIFtS: 61
GCID: GC18P043304

Solute Carrier Family 14 (Urea Transporter), Member 1 (Kidd...

(Previous names: Kidd blood group, solute carrier family 14 (urea transporter),...)
(Previous symbol: JK)
  See SLC14A1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 14 (Urea Transporter), Member 1 (Kidd Blood
Group)1 2
     HsT13412
JK1 2 3 5     RACH22
UT12 3 5     UT-B12
UTE2 3 5     SLC14A1 JK2
Kidd Blood Group1 2     Urea Transporter 12
Urea Transporter, Erythrocyte2 3     Urea Transporter JK Glycoprotein2
HUT112 3     Urea Transporter-B12
RACH12 3     Solute Carrier Family 14 Member 13
Solute Carrier Family 14 (Urea Transporter), Member 11     

External Ids:    HGNC: 109181   Entrez Gene: 65632   Ensembl: ENSG000001414697   OMIM: 6138685   UniProtKB: Q133363   

Export aliases for SLC14A1 gene to outside databases

Previous GC identifers: GC18P043616 GC18P043090 GC18P043193 GC18P041556 GC18P041558 GC18P040161


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC14A1 Gene:
The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene
forms the basis for the Kidd blood group system. (provided by RefSeq, Mar 2009)

GeneCards Summary for SLC14A1 Gene:
SLC14A1 (solute carrier family 14 (urea transporter), member 1 (Kidd blood group)) is a protein-coding gene. Diseases associated with SLC14A1 include bladder cancer susceptibility. GO annotations related to this gene include urea transmembrane transporter activity and water transmembrane transporter activity. An important paralog of this gene is SLC14A2.

UniProtKB/Swiss-Prot: UT1_HUMAN, Q13336
Function: Mediates urea transport in erythrocytes (By similarity). Low-affinity facilitative urea transporter that
allow rapid equilibration between the urinary space and the hyperosmotic interstitium. the rate of urea
conduction is increased by hypoosmotic stress

Gene Wiki entry for SLC14A1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC14A1 gene promoter:
         Max1   SREBP-1c   Bach2   LUN-1   C/EBPalpha   RORalpha1   PPAR-gamma1   HOXA5   PPAR-gamma2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC14A1 promoter sequence
   Search Chromatin IP Primers for SLC14A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC14A1


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

Entrez Gene cytogenetic band: 18q11-q12   Ensembl cytogenetic band:  18q12.3   HGNC cytogenetic band: 18q11-q12

SLC14A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC14A1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P043304:  view genomic region     (about GC identifiers)

Start:
43,304,092 bp from pter      End:
43,332,485 bp from pter
Size:
28,394 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UT1_HUMAN, Q13336 (See protein sequence)
Recommended Name: Urea transporter 1  
Size: 389 amino acids; 42528 Da
Subunit: Homotrimer (By similarity)
Secondary accessions: A8K0P3 B3KR62 B3KVX3 C9EHF2 Q86VM5
Alternative splicing: 2 isoforms:  Q13336-1   Q13336-2   

Explore the universe of human proteins at neXtProt for SLC14A1: NX_Q13336

Explore proteomics data for SLC14A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn211
  • Modification sites at PhosphoSitePlus

  • See SLC14A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001122060.3  NP_001139508.2  NP_001139509.1  NP_056949.4  

    ENSEMBL proteins: 
     ENSP00000318546   ENSP00000465029   ENSP00000442180   ENSP00000465702   ENSP00000466273  
     ENSP00000412309   ENSP00000441998   ENSP00000385320   ENSP00000467898   ENSP00000470055  
     ENSP00000390637   ENSP00000466093   ENSP00000468763   ENSP00000470476   ENSP00000465044  
     ENSP00000465150   ENSP00000465892  
    Reactome Protein details: Q13336

    SLC14A1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bloodgroup: Blood group antigens
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Erythrocyte urea transporter
    SLC14 family of facilitative urea transporters

    1 InterPro protein domain:
     IPR004937 Urea_transporter

    Graphical View of Domain Structure for InterPro Entry Q13336

    ProtoNet protein and cluster: Q13336

    1 Blocks protein domain: IPB004937 Urea transporter


    Find genes that share domains with SLC14A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UT1_HUMAN, Q13336
    Function: Mediates urea transport in erythrocytes (By similarity). Low-affinity facilitative urea transporter that
    allow rapid equilibration between the urinary space and the hyperosmotic interstitium. the rate of urea
    conduction is increased by hypoosmotic stress

         Genatlas biochemistry entry for SLC14A1:
    solute carrier family 14 (urea transport),member 1,36kDa,erythroid,same as Kidd (JK),see symbol

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005372water transmembrane transporter activity IEA--
    GO:0015204urea transmembrane transporter activity IEA--
         
    Find genes that share ontologies with SLC14A1           About GenesLikeMe


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc14a1):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  renal/urinary system  reproductive system 

    Find genes that share phenotypes with SLC14A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Slc14a1tm1Ask for SLC14A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC14A1
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    hsa-miR-21* hsa-miR-520e hsa-miR-302d hsa-miR-4254 hsa-miR-429 hsa-miR-200a hsa-miR-141 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSLC14A1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UT1_HUMAN, Q13336: Cell membrane; Multi-pass membrane protein (By similarity). Basolateral cell membrane (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7989337
    GO:0016021integral component of membrane ----
    GO:0016323basolateral plasma membrane IEA--

    Find genes that share ontologies with SLC14A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC14A1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with SLC14A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC14A1
        Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds


        Pathway & Disease-focused RT2 Profiler PCR Array including SLC14A1: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC14A1

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006833water transport ----
    GO:0015840urea transport TAS7989337
    GO:0055085transmembrane transport TAS--
    GO:0071918urea transmembrane transport ----

    Find genes that share ontologies with SLC14A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC14A1 (UT1)

    1 HMDB Compound for SLC14A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    UreaCarbonyl diamine (see all 90)57-13-6--

    2 Novoseek inferred chemical compound relationships for SLC14A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    urea 71.8 28 9582331 (4), 8542029 (2), 11841450 (2), 10514515 (2) (see all 11)
    vas-a 67.6 5 8995727 (3), 9582331 (1)



    Find genes that share compounds with SLC14A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SLC14A1 gene (4 alternative transcripts): 
    NM_001128588.3  NM_001146036.2  NM_001146037.1  NM_015865.6  

    Unigene Cluster for SLC14A1:

    Solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
    Hs.101307  [show with all ESTs]
    Unigene Representative Sequence: NM_001146037
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000321925(uc002lbi.4 uc002lbf.4 uc010xco.2 uc002lbk.4 uc021ujg.1)
    ENST00000587601 ENST00000502059 ENST00000586951 ENST00000589322 ENST00000415427(uc010dnk.3 uc010xcn.2 uc002lbg.4 uc002lbh.4)
    ENST00000535474 ENST00000402943 ENST00000588179 ENST00000586056 ENST00000436407(uc002lbj.4)
    ENST00000589891 ENST00000590246 ENST00000591943 ENST00000586142 ENST00000589700
    ENST00000590377 ENST00000591642
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    Selected qRT-PCR Assays for microRNAs that regulate SLC14A1 (see all 37):
    hsa-miR-21* hsa-miR-520e hsa-miR-302d hsa-miR-4254 hsa-miR-429 hsa-miR-200a hsa-miR-141 hsa-miR-374c
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC14A1
      QuantiFast Probe-based Assays in human, mouse, rat SLC14A1

    Additional mRNA sequence: 

    AF263545.1 AF328892.1 AK091064.1 AK289608.1 AK294129.1 AK295268.1 BC050539.1 GQ502682.1 
    HQ709264.1 L36121.1 U35735.1 Y19039.1 

    10 DOTS entries:

    DT.111587  DT.75101356  DT.101983510  DT.95108081  DT.101983511  DT.92421881  DT.95161079  DT.95161080 
    DT.95161081  DT.91824779 

    Selected AceView cDNA sequences (see all 104):

    AI431860 T08809 N47509 AK091064 AI056236 CA428601 AI684202 AF328892 
    R98010 BF512246 Y19039 AW472964 AX746761 AA857758 CA453695 BG292435 
    BC040128 AW069779 BU658781 BX099923 AI680655 BV183818 BU657117 CF457177 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC14A1 (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ·
    SP1:                          -           -     -     -     -     -     -                       -                                                     -         
    SP2:                          -           -                       -     -     -     -     -     -                                                     -         
    SP3:                                                              -     -                       -                                                     -         
    SP4:                          -           -     -     -     -     -     -     -     -     -     -                                                     -         
    SP5:                                                                                            -                                                     -         

    ExUns: 10c ^ 11 ^ 12a · 12b · 12c · 12d · 12e
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SLC14A1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC14A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAATTAT
    SLC14A1 Expression
    About this image


    SLC14A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Floor Plate Cells Spinal Floor Plate
             Metencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Erythroblasts Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Umbilical cord-derived mesenchymal stem cells (family)
    SLC14A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC14A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.101307

    UniProtKB/Swiss-Prot: UT1_HUMAN, Q13336
    Tissue specificity: Erythrocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC14A1: 
              Huntington's Disease in human mouse rat

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    In Situ
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SLC14A1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc14a11 , 5 solute carrier family 14 (urea transporter), member more1, 5 83.41(n)1
    82.05(a)1
      18 (52.49 cM)5
    1080521  NM_001171010.11  NP_001164481.11 
     781000915 
    lizard
    (Anolis carolinensis)
    Reptilia SLC14A16
    solute carrier family 14 (urea transporter), membe...
    55(a)
    1 ↔ 1
    1(35270691-35305561)
    zebrafish
    (Danio rerio)
    Actinopterygii slc14a26
    solute carrier family 14 (urea transporter), membe...
    43(a)
    1 → many
    5(54986975-54990608) ENSDARG00000051914


    ENSEMBL Gene Tree for SLC14A1 (if available)
    TreeFam Gene Tree for SLC14A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC14A1 gene
    SLC14A22  
    5 SIMAP similar genes for SLC14A1 using alignment to 27 protein entries:     UT1_HUMAN (see all proteins):
    UT-B1    SLC14A1 JK    HUT11    JK    SLC14A2

    Find genes that share paralogs with SLC14A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    UT1_HUMAN, Q13336: SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2
    alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the
    Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b).
    Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null)
    phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any
    obvious clinical syndrome except for a urine concentration defect


    Selected SNPs for SLC14A1 (see all 832)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10583961,2,,4
    C,F,A,Hnon-pathogenic143298334(+) TTGAGG/AACATC 8 /N /D mis141Minor allele frequency- A:0.41MN NA NS EA WA CSA EU 9625
    rs782429491,2,,4
    Cpathogenic143298367(+) ACAGCC/TCTCTG 8 P S mis10--------
    rs674246231,2
    C--40160356(+) ACACA-/AC/CA 
            
    TATAT
    3 -- us2k10--------
    rs116607811,2
    H--40160390(+) tatgtA/Gtatat 3 -- us2k10--------
    rs116608381,2
    H--40160396(+) tatatA/Gtatat 3 -- us2k10--------
    rs672852831,2
    C--40160431(+) TATAC-/ATGT  
            
    ATGTA
    3 -- us2k10--------
    rs290016221,2
    F--40188463(+) AAAAACAAAAC  
      AAAA
    /-
    CAAAA
    8 -- ut312Minor allele frequency- -:0.09NS 92
    rs1389139131,2
    --43280938(+) ACAACA/TTTATA 3 -- us2k10--------
    rs37605861,2
    C,F,H--43281041(-) GAATAC/TTAGCT 3 -- us2k117Minor allele frequency- T:0.27NS EA NA CSA 2216
    rs1414022201,2
    C--43281059(+) GGTTTA/GTCTGA 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC14A1 (43304092 - 43332485 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SLC14A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909586CNV Gain21882294
    nsv525268CNV Gain19592680
    nsv909587CNV Gain21882294

    Human Gene Mutation Database (HGMD): SLC14A1
    Locus Specific Mutation Databases (LSDB): SLC14A1

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC14A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC14A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613868   
    OMIM disorders: 111000  
    1 disease for SLC14A1:    
    About MalaCards
    bladder cancer susceptibility


    Find genes that share disorders with SLC14A1           About GenesLikeMe

    1 Novoseek inferred disease relationship for SLC14A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemolysis 36.1 1 11841450 (1)

    Genetic Association Database (GAD): SLC14A1
    Human Genome Epidemiology (HuGE) Navigator: SLC14A1 (9 documents)

    Export disorders for SLC14A1 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

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    PubMed articles for SLC14A1 gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with SLC14A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic characterization of the Kidd blood group gene: different molecular basis of the Jk(a-b-) phenotype in Polynesians and Finns. (PubMed id 10644814)1, 2, 9 Irshaid N.M.... Olsson M.L. (Transfusion 2000)
    2. Kidd blood group and urea transport function of human erythrocytes are carried by the same protein. (PubMed id 7797558)1, 3, 9 OlivA"s B....Bailly P. (J. Biol. Chem. 1995)
    3. At physiological expression levels, the Kidd blood group/urea transporter protein is not a water channel. (PubMed id 10514515)1, 2, 9 Sidoux-Walter F.... Bailly P. (J. Biol. Chem. 1999)
    4. European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. (PubMed id 21750109)1, 4 Rafnar T....Kiemeney L.A. (Hum. Mol. Genet. 2011)
    5. A genome-wide association study of bladder cancer identifies a new susceptibility locus within SLC14A1, a urea transporter gene on chromosome 18q12.3. (PubMed id 21824976)1, 4 Garcia-Closas M....Wu X. (Hum. Mol. Genet. 2011)
    6. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Introduction of a real-time-based blood-group genotyping approach. (PubMed id 18510579)1, 4 Polin H....Gabriel C. (Vox Sang. 2008)
    9. ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese. (PubMed id 15783300)1, 4 Yan L....He J. (Immunohematology 2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    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

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    Entrez Gene: 6563 HGNC: 10918 AceView: SLC14A1 Ensembl:ENSG00000141469 euGenes: HUgn6563
    ECgene: SLC14A1 H-InvDB: SLC14A1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC14A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC14A1 Genetics and Cytogenetics in Oncology and Haematology
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=kidd
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC14A1[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/slc14a1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC14A1 gene:
    Search GeneIP for patents involving SLC14A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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