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UMOD uromodulin [ Homo sapiens (human) ]

Gene ID: 7369, updated on 17-Jun-2019

Summary

Official Symbol
UMODprovided by HGNC
Official Full Name
uromodulinprovided by HGNC
Primary source
HGNC:HGNC:12559
See related
Ensembl:ENSG00000169344 MIM:191845
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]
Expression
Restricted expression toward kidney (RPKM 990.9) See more
Orthologs

Genomic context

See UMOD in Genome Data Viewer
Location:
16p12.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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 
ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
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 
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 HDA PubMed 
extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
uromodulin
Names
Tamm-Horsfall urinary glycoprotein
uromucoid

NCBI Reference Sequences (RefSeq)

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_001008389.3NP_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, ENST00000570689.5
    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_001278614.2NP_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, ENST00000396134.6
    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 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011545938.1XP_011544240.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544240.1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  2. XM_011545934.2XP_011544236.2  uromodulin isoform X1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  3. XM_011545940.2XP_011544242.2  uromodulin isoform X1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  4. XM_011545937.1XP_011544239.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544239.1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  5. XM_011545936.1XP_011544238.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544238.1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  6. XM_011545935.1XP_011544237.1  uromodulin isoform X1

    See identical proteins and their annotated locations for XP_011544237.1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
  7. XM_024450433.1XP_024306201.1  uromodulin isoform X1

    Conserved Domains (4) summary
    smart00179
    Location:108149
    EGF_CA; Calcium-binding EGF-like domain
    smart00241
    Location:334630
    ZP; Zona pellucida (ZP) domain
    pfam07645
    Location:65103
    EGF_CA; Calcium-binding EGF domain
    pfam12947
    Location:3563
    EGF_3; EGF domain
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