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UMOD uromodulin [ Homo sapiens (human) ]

Gene ID: 7369, updated on 6-Jul-2014
Official Symbol
UMODprovided by HGNC
Official Full Name
uromodulinprovided by HGNC
Primary source
HGNC:12559
See related
Ensembl:ENSG00000169344; HPRD:11771; 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]
See UMOD in Epigenomics, MapViewer
Location:
16p12.3
Exon count :
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (20333051..20352878, 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 (zymogen granule membrane) Neighboring gene protein disulfide isomerase-like, testis expressed Neighboring gene acyl-CoA synthetase medium-chain family member 5

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
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
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
 
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 IDA
Inferred from Direct Assay
more info
 
leukocyte cell-cell adhesion IDA
Inferred from Direct Assay
more info
 
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
 
regulation of ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
response to organic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
anchored component of membrane IDA
Inferred from Direct Assay
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 
ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of membrane TAS
Traceable Author Statement
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
primary cilium IDA
Inferred from Direct Assay
more info
 
spindle pole IDA
Inferred from Direct Assay
more info
 
Preferred Names
uromodulin
Names
uromodulin
uromucoid
Tamm-Horsfall urinary glycoprotein

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 

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

mRNA and Protein(s)

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

    See proteins identical to 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
    ENSP00000306279, ENST00000302509
    Conserved Domains (3) summary
    smart00241
    Location:334583
    Blast Score: 560
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:108149
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:3563
    Blast Score: 100
    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, OTTHUMP00000162213, ENST00000396134, OTTHUMT00000254334
    Conserved Domains (3) summary
    smart00241
    Location:367616
    Blast Score: 563
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:141182
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:6896
    Blast Score: 100
    EGF_3; EGF domain
  3. NM_003361.3NP_003352.2  uromodulin isoform a preproprotein

    See proteins identical to 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
    ENSP00000379446, ENST00000396142
    Conserved Domains (3) summary
    smart00241
    Location:334583
    Blast Score: 560
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:108149
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:3563
    Blast Score: 100
    EGF_3; EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    20333051..20352878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721085.1XP_006721148.1  

    Conserved Domains (3) summary
    smart00241
    Location:362611
    Blast Score: 564
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:136177
    Blast Score: 114
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:6391
    Blast Score: 101
    EGF_3; EGF domain
  2. XM_006721088.1XP_006721151.1  

    See proteins identical to XP_006721151.1

    UniProtKB/Swiss-Prot
    P07911
    Conserved Domains (3) summary
    smart00241
    Location:334583
    Blast Score: 560
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:108149
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:3563
    Blast Score: 100
    EGF_3; EGF domain
  3. XM_006721087.1XP_006721150.1  

    See proteins identical to XP_006721150.1

    UniProtKB/Swiss-Prot
    P07911
    Conserved Domains (3) summary
    smart00241
    Location:334583
    Blast Score: 560
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:108149
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:3563
    Blast Score: 100
    EGF_3; EGF domain
  4. XM_006721086.1XP_006721149.1  

    See proteins identical to XP_006721149.1

    UniProtKB/Swiss-Prot
    P07911
    Conserved Domains (3) summary
    smart00241
    Location:334583
    Blast Score: 560
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:108149
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:3563
    Blast Score: 100
    EGF_3; EGF domain
  5. XM_006721089.1XP_006721152.1  

    Conserved Domains (3) summary
    smart00241
    Location:383494
    Blast Score: 250
    ZP; Zona pellucida (ZP) domain
    cd00054
    Location:157198
    Blast Score: 113
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam12947
    Location:84112
    Blast Score: 100
    EGF_3; EGF domain

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    18881007..18900856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

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

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