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

UMODL1 Gene

protein-coding   GIFtS: 48
GCID: GC21P043484

uromodulin-like 1

 Explore 7 diseases affiliated with
UMODL1 via our new
 Human Malady Compendium 
Biological research products
for UMODL1
    

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

Aliases
Uromodulin-Like 11 2
Gene Similar To Uromodulin11
Olfactorin3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UMODL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
43,563,105 bp from pter 29,105,067 bp from centromere
Size:
80,038 bases 61,543 bases
Orientation:
plus strand plus strand

genomic clones: KB834A1 KB1342D7


(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: UROL1_HUMAN, Q5DID0 (See protein sequence)
Recommended Name: Uromodulin-like 1 precursor  
Size: 1318 amino acids; 144294 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform 3: Cytoplasm
Subcellular location: Isoform 4: Cytoplasm
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5DID0

  • UMODL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Uscn Proteins for UMODL1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005615extracellular space IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ----
    GO:0009897external side of plasma membrane IEA--


    UMODL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for UMODL1


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

    UMODL1 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR001881 EGF-like_Ca-bd
     IPR000082 SEA
     IPR000742 EG-like_dom
     IPR003961 Fibronectin_type3
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry Q5DID0

    ProtoNet protein and cluster: Q5DID0

    5 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-29b-1*
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UMODL1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0030414peptidase inhibitor activity IEA--


    UMODL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for UMODL1:
     Decreased TP53 protein express 


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UMODL1

    (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 UMODL1
    Search CenterWatch for drugs/clinical trials and news about UMODL1 / UROL1 

    (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, 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 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)

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate UMODL1:
    hsa-miR-29b-1*
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    Inhib. RNA
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    Additional cDNA 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:

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

    UMODL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGAAAGCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    UMODL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See UMODL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UMODL1

    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

        SABiosciences Custom PCR Arrays for UMODL1
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    In Situ
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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for UMODL1 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Umodl11 , 5 uromodulin-like 11, 5 71.97(n)1
    62.72(a)1
      17 (15.80 cM)5
    520201  NM_177465.41  NP_803416.21 
     309546835 
    chicken
    (Gallus gallus)
    Aves UMODL11 uromodulin-like 1 59.84(n)
    53.55(a)
      427987  XM_425557.3  XP_425557.3 
    lizard
    (Anolis carolinensis)
    Reptilia UMODL16
    --
    42(a)
    1 ↔ 1
    3(138003141-138042217)
    zebrafish
    (Danio rerio)
    Actinopterygii umodl11 uromodulin-like 1 45.46(n)
    30.93(a)
      567806  XM_691108.4  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
    Paralogs for UMODL1 gene
    GP22  OIT32  UMOD2  
    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, 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

    10/2097 NCBI SNPs in UMODL1 are shown (see all 2097    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
    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
    --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
    F,--43481625(+) ATCCCT/GCCTGC 2 -- us2k11Minor allele frequency- G:0.07NA 120

    HapMap Linkage Disequilibrium report for UMODL1 (43483068 - 43563105 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for UMODL1
         1 CNV: 103102
         4 Indels: 73643 46176 73642 46177

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    (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

    UMODL1 for disorders           About GeneDecksing

    OMIM gene information: 613859    OMIM disorders: --

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

    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

    PubMed articles for UMODL1 gene integrated from 9 sources:
    (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. (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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    5. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. (PubMed id 18535602)1, 9 Nishizaki R....Mizuki N. (2008)
    6. Investigating the relationship between UMODL1 gene pol ymorphisms and high myopia: a case-control study in Chinese. (PubMed id 22857148)1 Zhu M.M....Yip S.P. (2012)
    7. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 89766 HGNC: 12560 AceView: UMODL1 Ensembl:ENSG00000177398 euGenes: HUgn89766
    ECgene: UMODL1 H-InvDB: UMODL1

    (According to HUGE)
    About This Section
      --

    (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 UMODL1 Pharmacogenomics, SNPs, Pathways

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



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