Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



UMODL1 Gene

protein-coding   GIFtS: 49
GCID: GC21P043484

Uromodulin-Like 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

TryGeneCards Plus

Aliases
Uromodulin-Like 11 2
olfactorin1 2
Gene Similar To Uromodulin11
Olfactorin3

External Ids:    HGNC: 125601   Entrez Gene: 897662   Ensembl: ENSG000001773987   OMIM: 6138595   UniProtKB: Q5DID03   

Export aliases for UMODL1 gene to outside databases

Previous GC identifers: GC21U990105 GC21P042413 GC21P028908


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

TryGeneCards Plus

GeneCards Summary for UMODL1 Gene:
UMODL1 (uromodulin-like 1) is a protein-coding gene. Diseases associated with UMODL1 include kallmann syndrome, and myopia. GO annotations related to this gene include peptidase inhibitor activity and calcium ion binding.


(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the UMODL1 gene promoter:
         NRSF form 1   Brachyury   NRSF form 2   Tal-1beta   Egr-4   AREB6   Egr-2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUMODL1 promoter sequence

   Search Chromatin IP Primers for UMODL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UMODL1


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
UMODL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UMODL1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P043484:   GeneLoc Nature:405,311-319
Start:
43,483,068 bp from pter       29,043,525 bp from centromere
End:
43,563,563 bp from pter 29,105,067 bp from centromere
Size:
80,496 bases 61,543 bases
Orientation:
plus strand plus strand

genomic clones: KB834A1 KB1342D7


(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: UROL1_HUMAN, Q5DID0 (See protein sequence)
Recommended Name: Uromodulin-like 1 precursor  
Size: 1318 amino acids; 144294 Da
Sequence caution: Sequence=BAC04211.1; Type=Erroneous initiation;
Secondary accessions: C9JCE6 Q5DIC9 Q6LA40 Q6LA41 Q8N216
Alternative splicing: 4 isoforms:  Q5DID0-1   Q5DID0-2   Q5DID0-3   Q5DID0-4   (Variant in position: 691:R->G (in dbSNP:rs220127). Variant in position: 644:D->E. Variant in position: 741:T->P)

Explore the universe of human proteins at neXtProt for UMODL1: NX_Q5DID0

Explore proteomics data for UMODL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn89, Asn109, Asn172, Asn322, Asn335, Asn417, Asn585, Asn713, Asn984, Asn1050

  • See UMODL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001004416.2  NP_001186456.1  NP_001186457.2  NP_775839.3  

    ENSEMBL proteins: 
     ENSP00000383279   ENSP00000383276   ENSP00000386126   ENSP00000386147   ENSP00000420468  
     ENSP00000418135   ENSP00000418848   ENSP00000383273   ENSP00000418417   ENSP00000417444  

    UMODL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for UMODL1
    GenScript Custom Purified and Recombinant Proteins Services for UMODL1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    UMODL1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UMODL1
    Novus Biologicals UMODL1 Antibody
    Abcam antibodies for UMODL1
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for UMODL1
    LSBio Antibodies in human, mouse, rat for UMODL1

    UMODL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UMODL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UMODL1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


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

    TryGeneCards Plus
    Selected InterPro protein domains (see all 10):
     IPR000742 EG-like_dom
     IPR003961 Fibronectin_type3
     IPR011489 EMI_domain
     IPR008197 WAP-type_4-diS_core
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site

    Graphical View of Domain Structure for InterPro Entry Q5DID0

    ProtoNet protein and cluster: Q5DID0

    5 Blocks protein domains:
    IPB000082 SEA domain
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB001507 Endoglin/CD105 antigen
    IPB008197 4-disulphide core signature
    IPB011489 EMI


    UniProtKB/Swiss-Prot: UROL1_HUMAN, Q5DID0
    Similarity: Contains 3 EGF-like domains
    Similarity: Contains 1 EMI domain
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 2 SEA domains
    Similarity: Contains 1 WAP domain
    Similarity: Contains 1 ZP domain


    UMODL1 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0030414peptidase inhibitor activity IEA--
         
    UMODL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UMODL1:
     Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UMODL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UMODL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UMODL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UMODL1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat UMODL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UMODL1:
    hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidUMODL1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UMODL1
    Predesigned siRNA for gene silencing in human, mouse, rat UMODL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UMODL1

    Clone
    Products:
         
    OriGene clones in human, mouse for UMODL1 (see all 12)
    OriGene ORF clones in mouse, rat for UMODL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): UMODL1 (NM_001199527)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMODL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMODL1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UMODL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for UMODL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMODL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    UROL1_HUMAN, Q5DID0: Cell membrane; Single-pass type I membrane protein
    UROL1_HUMAN, Q5DID0: Isoform 3: Cytoplasm
    UROL1_HUMAN, Q5DID0: Isoform 4: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    lysosome1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    UMODL1 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UMODL1
    Interactions:

        Search GeneGlobe Interaction Network for UMODL1

    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UMODL1 (UROL1)



    (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, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for UMODL1 gene (4 alternative transcripts): 
    NM_001004416.2  NM_001199527.1  NM_001199528.2  NM_173568.3  

    Unigene Cluster for UMODL1:

    Uromodulin-like 1
    Hs.242520  [show with all ESTs]
    Unigene Representative Sequence: NM_001199527
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400427(uc002zae.1) ENST00000400424(uc002zad.1) ENST00000408989(uc002zag.1)
    ENST00000408910(uc002zaf.1) ENST00000491559(uc002zai.1) ENST00000468982(uc010gow.1)
    ENST00000497243(uc010goz.1) ENST00000400421(uc010gox.1) ENST00000466434(uc002zaj.1)
    ENST00000485357(uc010goy.1) ENST00000475047 ENST00000484174 ENST00000400423(uc002zal.1)
    ENST00000484712(uc010gpa.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UMODL1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UMODL1:
    hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidUMODL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UMODL1
    Predesigned siRNA for gene silencing in human, mouse, rat UMODL1
    Clone
    Products:
         
    OriGene clones in human, mouse for UMODL1 (see all 12)
    OriGene ORF clones in mouse, rat for UMODL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): UMODL1 (NM_001199527)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UMODL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMODL1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for UMODL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMODL1
      QuantiTect SYBR Green Assays in human, mouse, rat UMODL1
      QuantiFast Probe-based Assays in human, mouse, rat UMODL1

    Additional mRNA sequence: 

    AB051810.1 AB051811.1 AB096965.1 AB096966.1 AB096967.1 AB096968.1 AB096969.1 AB096970.1 
    AB096971.1 AB096972.1 AB096973.1 AK093654.1 AK093909.1 AK124223.1 AY771619.1 AY771620.1 
    BC039531.1 

    6 DOTS entries:

    DT.70103111  DT.121133437  DT.102822451  DT.102822454  DT.121133428  DT.99927419 

    23 AceView cDNA sequences:

    AB096970 NM_001004416 AB096967 AB096966 AX748245 AB096965 NM_173568 AB096969 
    AK093654 AB096971 AB051810 AB096973 AB096972 AB096968 BM554176 BC039531 
    AK124223 AW197195 AI674725 AB051811 AW135519 BE500972 BE504757 

    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™, 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)
    About This Section

    TryGeneCards Plus

    UMODL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAAAGCCC
    UMODL1 Expression
    About this image


    UMODL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gonad
             Primordial Germ Cells Allantois
             Primordial germ cell-like cells
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Ovary (Reproductive System)
             Secondary follicles
     
     Placenta (Extraembryonic Tissues)
             Primordial Germ Cells Allantois
    UMODL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UMODL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.242520

    UniProtKB/Swiss-Prot: UROL1_HUMAN, Q5DID0
    Tissue specificity: Isoform 4 is expressed at low level in kidney, testis and fetal thymus. Isoform 3 is expressed
    at low level in prostate, testis and fetal thymus

        Custom PCR Arrays for UMODL1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for UMODL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMODL1
    QuantiTect SYBR Green Assays in human, mouse, rat UMODL1
    QuantiFast Probe-based Assays in human, mouse, rat UMODL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMODL1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for UMODL1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umodl11 , 5 uromodulin-like 11, 5 72.96(n)1
    62.88(a)1
      17 (15.80 cM)5
    520201  NM_177465.41  NP_803416.21 
     309546835 
    chicken
    (Gallus gallus)
    Aves UMODL11 uromodulin-like 1 59.79(n)
    53.47(a)
      427987  XM_425557.4  XP_425557.4 
    lizard
    (Anolis carolinensis)
    Reptilia UMODL16
    uromodulin-like 1
    41(a)
    1 ↔ 1
    3(138003141-138047480)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia umodl11 uromodulin-like 1 51.31(n)
    39.48(a)
      100170606  NM_001130372.1  NP_001123844.1 
    zebrafish
    (Danio rerio)
    Actinopterygii umodl11 uromodulin-like 1 46.08(n)
    31.05(a)
      567806  XM_691108.5  XP_696200.4 


    ENSEMBL Gene Tree for UMODL1 (if available)
    TreeFam Gene Tree for UMODL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for UMODL1 gene
    1 SIMAP similar gene for UMODL1 using alignment to 16 protein entries:     UROL1_HUMAN (see all proteins):
    UMOD

    UMODL1 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), 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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for UMODL1 (see all 2336)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs609250701,2
    C--43481132(+) TGTGCC/ACTGGC 2 -- us2k14Minor allele frequency- A:0.12WA NA EA 360
    rs1174348081,2
    C,F--43481245(+) TAGGGC/TCCACC 2 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1868584791,2
    --43481279(+) AACTAC/TACCTG 2 -- us2k10--------
    rs1476579891,2
    --43481301(+) TTCCCA/CAATAC 2 -- us2k10--------
    rs2202611,2
    C,F,O,A,H--43481394(-) GCCTCC/AAAAAG 2 -- us2k117Minor allele frequency- A:0.27NS EA NA WA CSA 951
    rs1131965181,2
    C--43481424(+) GGCCCCAGGCTGG
    CCTGCAG
    /-
    CAGGC
    2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1123277991,2
    C,F--43481529(+) CATCCA/GCGGGG 2 -- us2k13Minor allele frequency- G:0.08CSA WA NA 239
    rs1917504391,2
    --43481543(+) TCGTGC/TTGGTG 2 -- us2k10--------
    rs696861,2
    C,F,A,H--43481620(+) TCAGCA/GTCCCT 2 -- us2k125Minor allele frequency- G:0.48NS EA NA WA CSA 2357
    rs1177250291,2
    C,F--43481625(+) ATCCCT/GCCTGC 2 -- us2k11Minor allele frequency- G:0.07NA 120

    HapMap Linkage Disequilibrium report for UMODL1 (43483068 - 43563563 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for UMODL1 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723526CNV Deletion23290073
    esv2723516CNV Deletion23290073
    esv2110905CNV Deletion18987734
    esv2723529CNV Deletion23290073
    esv2723525CNV Deletion23290073
    dgv755e201CNV Deletion23290073
    esv2423716CNV Deletion19546169
    esv2723523CNV Deletion23290073
    esv2723530CNV Deletion23290073
    esv2723527CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UMODL1
    DNA2.0 Custom Variant and Variant Library Synthesis for UMODL1

    (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

    TryGeneCards Plus
    OMIM gene information: 613859    OMIM disorders: --

    8 diseases for UMODL1:    
    About MalaCards
    kallmann syndrome    myopia    down syndrome    hepatitis b
    obesity    hepatitis    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for UMODL1:
    Myopia

    UMODL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UMODL1
    Human Genome Epidemiology (HuGE) Navigator: UMODL1 (3 documents)

    Export disorders for UMODL1 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

    TryGeneCards Plus

    PubMed articles for UMODL1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with UMODL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. UMODL1/olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons. (PubMed id 16026467)1, 2, 3 Di Schiavi E.... Rugarli E.I. (Eur. J. Neurosci. 2005)
    2. Initial characterization of an uromodulin-like 1 gene on human chromosome 21q22.3. (PubMed id 15194491)1, 2, 9 Shibuya K.... Shimizu N. (Biochem. Biophys. Res. Commun. 2004)
    3. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. (PubMed id 18535602)1, 4, 9 Nishizaki R....Mizuki N. (Eye (Lond) 2009)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    7. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    9. Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese. (PubMed id 22857148)1 Zhu M.M....Yip S.P. (BMC Med. Genet. 2012)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 89766 HGNC: 12560 AceView: UMODL1 Ensembl:ENSG00000177398 euGenes: HUgn89766
    ECgene: UMODL1 H-InvDB: UMODL1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for UMODL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for UMODL1 gene:
    Search GeneIP for patents involving UMODL1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for UMODL1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for UMODL1  
     OriGene qSTAR qPCR primer pairs in human, mouse for UMODL1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for UMODL1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for UMODL1   OriGene Custom Protein Services for UMODL1  

     
     
     Block miRNA regulation of human, mouse, rat UMODL1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing UMODL1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UMODL1 Predesigned siRNA for gene silencing in human, mouse, rat UMODL1
     QuantiFast Probe-based Assays in human, mouse, rat UMODL1 QuantiTect SYBR Green Assays in human, mouse, rat UMODL1
     Custom PCR Arrays for UMODL1 Search Chromatin IP Primers for UMODL1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UMODL1  Search GeneGlobe Interaction Network for UMODL1
     Regulatory tfbs in UMODL1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for UMODL1 GenScript cDNA clones with any tag delivered in your preferred vector for UMODL1
     GenScript Custom Assay Services for UMODL1 GenScript Custom overexpressing Cell Line Services for UMODL1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for UMODL1 (UROL1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     UMODL1 antibodies
     Antibodies for UMODL1
     See all of Abcam's Antibodies, Kits and Proteins for UMODL1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for UMODL1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMODL1
     SwitchGear 3'UTR luciferase reporter plasmids for UMODL1
     SwitchGear Promoter luciferase reporter plasmids for UMODL1
     Search ThermoFisher Antibodies for UMODL1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UMODL1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UMODL1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UMODL1
     LSBio Antibodies in human, mouse, rat for UMODL1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      UMODL1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4