• Gene id: 7369

Gene Summary

• Gene Symbol: UMOD   Gene   UCSC   Ensembl
• Aliases: ADMCKD2, FJHN, HNFJ, HNFJ1, MCKD2, THGP, THP
• Gene name: uromodulin
• Alternate names: uromodulin, Tamm-Horsfall urinary glycoprotein, uromucoid,
• Gene location: 16p12.3 (20356300: 20333050)     Exons: 15     NC_000016.10
• Gene summary(Entrez): 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 situat
• OMIM: 191845

Protein Summary

• Protein general information: P07911  
  • Name: Uromodulin (Tamm Horsfall urinary glycoprotein) (THP) [Cleaved into: Uromodulin, secreted form]
  • Length: 640  
  • Mass: 69761
  • Tissue specificity: Expressed in the tubular cells of the kidney. Most abundant protein in normal urine (at protein level). Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick ascending limb of Henle's loop (TALH)
• Sequence:

  MGQPSLTWMLMVVVASWFITTAATDTSEARWCSECHSNATCTEDEAVTTCTCQEGFTGDGLTCVDLDECAIPGAH
  NCSANSSCVNTPGSFSCVCPEGFRLSPGLGCTDVDECAEPGLSHCHALATCVNVVGSYLCVCPAGYRGDGWHCEC
  SPGSCGPGLDCVPEGDALVCADPCQAHRTLDEYWRSTEYGEGYACDTDLRGWYRFVGQGGARMAETCVPVLRCNT
  AAPMWLNGTHPSSDEGIVSRKACAHWSGHCCLWDASVQVKACAGGYYVYNLTAPPECHLAYCTDPSSVEGTCEEC
  SIDEDCKSNNGRWHCQCKQDFNITDISLLEHRLECGANDMKVSLGKCQLKSLGFDKVFMYLSDSRCSGFNDRDNR
  DWVSVVTPARDGPCGTVLTRNETHATYSNTLYLADEIIIRDLNIKINFACSYPLDMKVSLKTALQPMVSALNIRV
  GGTGMFTVRMALFQTPSYTQPYQGSSVTLSTEAFLYVGTMLDGGDLSRFALLMTNCYATPSSNATDPLKYFIIQD
  RCPHTRDSTIQVVENGESSQGRFSVQMFRFAGNYDLVYLHCEVYLCDTMNEKCKPTCSGTRFRSGSVIDQSRVLN
  LGPITRKGVQATVSRAFSSLGLLKVWLPLLLSATLTLTFQ

• Structural information:
  • Protein Domains: (28..6-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (65..10-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (108..14-)
    (/note="EGF-like-)
    (-)
    (/eviden-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR024731  IPR009030  IPR001507  IPR017977  
  • Prosite: PS00010 PS01186 PS50026 PS01187 PS00682 PS51034
  • PDB: 4WRN
  • PDBsum: 4WRN
  • STRING: ENSP00000379438
• Other Databases: GeneCards:  UMOD  Malacards:  UMOD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:1990266	neutrophil migration	IBA	biological process
GO:0009986	cell surface	IBA	cellular component
GO:0016324	apical plasma membrane	IBA	cellular component
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0019898	extrinsic component of membrane	TAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0072221	metanephric distal convoluted tubule development	IEA	biological process
GO:0072218	metanephric ascending thin limb development	IEA	biological process
GO:0007588	excretion	IEA	biological process
GO:0072233	metanephric thick ascending limb development	IEA	biological process
GO:0050801	ion homeostasis	IEA	biological process
GO:0048878	chemical homeostasis	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0019864	IgG binding	IDA	molecular function
GO:0007157	heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA	biological process
GO:0007159	leukocyte cell-cell adhesion	IDA	biological process
GO:0016323	basolateral plasma membrane	IDA	cellular component
GO:1990266	neutrophil migration	IDA	biological process
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Autosomal dominant tubulointerstitial kidney disease	KEGG:H00541
Familial juvenile hyperuricemic nephropathy	KEGG:H02011
Medullary cystic kidney disease	KEGG:H02012
Autosomal dominant tubulointerstitial kidney disease	KEGG:H00541
Familial juvenile hyperuricemic nephropathy	KEGG:H02011
Medullary cystic kidney disease	KEGG:H02012
Familial juvenile hyperuricemic nephropathy	PMID:12471200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)