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    UMOD uromodulin [ Homo sapiens (human) ]

    Gene ID: 7369, updated on 25-May-2017
    Official Symbol
    UMODprovided by HGNC
    Official Full Name
    uromodulinprovided by HGNC
    Primary source
    HGNC:HGNC:12559
    See related
    Ensembl:ENSG00000169344 MIM:191845; Vega:OTTHUMG00000131488
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    THP; FJHN; HNFJ; THGP; HNFJ1; MCKD2; ADMCKD2
    Summary
    The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Orthologs
    Location:
    16p12.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (20333051..20356301, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (20344373..20364200, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide E pseudogene 3 Neighboring gene glycoprotein 2 Neighboring gene protein disulfide isomerase like, testis expressed Neighboring gene acyl-CoA synthetase medium-chain family member 5 Neighboring gene uncharacterized LOC105371119

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
    NHGRI GWA Catalog
    Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass.
    NHGRI GWA Catalog
    Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
    NHGRI GWA Catalog
    Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.
    NHGRI GWA Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    NHGRI GWA Catalog
    Multiple loci associated with indices of renal function and chronic kidney disease.
    NHGRI GWA Catalog
    New loci associated with kidney function and chronic kidney disease.
    NHGRI GWA Catalog
    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    IgG binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    chemical homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    excretion IEA
    Inferred from Electronic Annotation
    more info
     
    heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IDA
    Inferred from Direct Assay
    more info
    PubMed 
    leukocyte cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metanephric ascending thin limb development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric distal convoluted tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric thick ascending limb development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    neutrophil migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
     
    regulation of ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    anchored component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extrinsic component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    uromodulin
    Names
    Tamm-Horsfall urinary glycoprotein
    uromucoid

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008151.1 RefSeqGene

      Range
      4838..24665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008389.2NP_001008390.1  uromodulin isoform a preproprotein

      See identical proteins and their annotated locations for NP_001008390.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK091961, BF593229, DA634392, M17778
      Consensus CDS
      CCDS10583.1
      UniProtKB/Swiss-Prot
      P07911
      Related
      ENSP00000460548.1, OTTHUMP00000256620, ENST00000570689.5, OTTHUMT00000436862
      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334583
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:463583
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain
    2. NM_001278614.1NP_001265543.1  uromodulin isoform b preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an additional in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is longer than isoform a.
      Source sequence(s)
      AK091961, BF593229, DA634392, M17778
      Consensus CDS
      CCDS61876.1
      UniProtKB/Swiss-Prot
      P07911
      Related
      ENSP00000379438.2, OTTHUMP00000162213, ENST00000396134.6, OTTHUMT00000254334
      Conserved Domains (5) summary
      smart00179
      Location:141182
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:367616
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:496616
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:98136
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:6896
      EGF_3; EGF domain
    3. NM_003361.3NP_003352.2  uromodulin isoform a preproprotein

      See identical proteins and their annotated locations for NP_003352.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (a). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK091961, BF593229, DA634392, M17778
      Consensus CDS
      CCDS10583.1
      UniProtKB/Swiss-Prot
      P07911
      Related
      ENSP00000306279.4, ENST00000302509.8
      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334583
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:463583
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      20333051..20356301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545938.1XP_011544240.1  uromodulin isoform X3

      See identical proteins and their annotated locations for XP_011544240.1

      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334630
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:510630
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain
    2. XM_017023641.1XP_016879130.1  uromodulin isoform X4

      Conserved Domains (5) summary
      smart00179
      Location:136177
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:362611
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:491611
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:93131
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:6391
      EGF_3; EGF domain
    3. XM_011545934.1XP_011544236.1  uromodulin isoform X2

      Conserved Domains (5) summary
      smart00179
      Location:136177
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:362658
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:538658
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:93131
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:6391
      EGF_3; EGF domain
    4. XM_011545940.1XP_011544242.1  uromodulin isoform X1

      Conserved Domains (5) summary
      smart00179
      Location:157198
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:383679
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:559679
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:114152
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:84112
      EGF_3; EGF domain
    5. XM_011545937.1XP_011544239.1  uromodulin isoform X3

      See identical proteins and their annotated locations for XP_011544239.1

      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334630
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:510630
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain
    6. XM_011545936.1XP_011544238.1  uromodulin isoform X3

      See identical proteins and their annotated locations for XP_011544238.1

      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334630
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:510630
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain
    7. XM_011545935.1XP_011544237.1  uromodulin isoform X3

      See identical proteins and their annotated locations for XP_011544237.1

      Conserved Domains (5) summary
      smart00179
      Location:108149
      EGF_CA; Calcium-binding EGF-like domain
      smart00241
      Location:334630
      ZP; Zona pellucida (ZP) domain
      pfam00100
      Location:510630
      Zona_pellucida; Zona pellucida-like domain
      pfam07645
      Location:65103
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:3563
      EGF_3; EGF domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      20432269..20452397 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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