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Protein

Uromodulin

Gene

UMOD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure that may play a role in the water barrier permeability (Probable). May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF (PubMed:3498215). Facilitates neutrophil migration across renal epithelia (PubMed:20798515).Curated2 Publications
Uromodulin, secreted form: In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.By similarityCurated

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • IgG binding Source: BHF-UCL

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-446203 Asparagine N-linked glycosylation
SIGNORiP07911

Names & Taxonomyi

Protein namesi
Recommended name:
Uromodulin
Alternative name(s):
Tamm-Horsfall urinary glycoprotein
Short name:
THP
Cleaved into the following chain:
Gene namesi
Name:UMOD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000169344.15
HGNCiHGNC:12559 UMOD
MIMi191845 gene
neXtProtiNX_P07911

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Familial juvenile hyperuricemic nephropathy 1 (HNFJ1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal disease characterized by juvenile onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis.
See also OMIM:162000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07305252C → W in HNFJ1. 1 Publication1
Natural variantiVAR_07305359D → A in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Natural variantiVAR_02595077C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917768EnsemblClinVar.1
Natural variantiVAR_071398109V → E in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 PublicationCorresponds to variant dbSNP:rs780462125EnsemblClinVar.1
Natural variantiVAR_073054112C → R in HNFJ1. 1 Publication1
Natural variantiVAR_025952126C → R in HNFJ1. 2 PublicationsCorresponds to variant dbSNP:rs121917769EnsemblClinVar.1
Natural variantiVAR_025953128N → S in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 PublicationsCorresponds to variant dbSNP:rs121917770EnsemblClinVar.1
Natural variantiVAR_073055135C → S in HNFJ1. 1 Publication1
Natural variantiVAR_025954148C → W in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 2 Publications1
Natural variantiVAR_017667148C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs28934582EnsemblClinVar.1
Natural variantiVAR_025955150C → S in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein. 3 Publications1
Natural variantiVAR_073057170C → Y in HNFJ1. 1 Publication1
Natural variantiVAR_073058185R → S in HNFJ1. 1 Publication1
Natural variantiVAR_073059195C → F in HNFJ1. 1 Publication1
Natural variantiVAR_073060202W → S in HNFJ1. 1 Publication1
Natural variantiVAR_073061204R → G in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Natural variantiVAR_073062217C → G in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs28934583EnsemblClinVar.1
Natural variantiVAR_017668217C → R in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 PublicationsCorresponds to variant dbSNP:rs28934583EnsemblClinVar.1
Natural variantiVAR_073063222R → P in HNFJ1. 1 Publication1
Natural variantiVAR_025956223C → Y in HNFJ1. 1 Publication1
Natural variantiVAR_073064225T → M in HNFJ1. 1 Publication1
Natural variantiVAR_071399230W → R in HNFJ1. 1 Publication1
Natural variantiVAR_073065236P → L in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs1447458978Ensembl.1
Natural variantiVAR_071400236P → Q in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_073066236P → R in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 1 Publication1
Natural variantiVAR_025959255C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917771EnsemblClinVar.1
Natural variantiVAR_073067282C → R in HNFJ1. 1 Publication1
Natural variantiVAR_025960300C → G in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917772EnsemblClinVar.1
Natural variantiVAR_073068316Q → P in HNFJ1. 1 Publication1
Natural variantiVAR_025962317C → Y in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_073069347C → G in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_071401461A → E in HNFJ1. 1 Publication1
Medullary cystic kidney disease 2 (MCKD2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade.
See also OMIM:603860
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02595193 – 97VCPEG → AASC in MCKD2; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein. 2 Publications5
Natural variantiVAR_017666103G → C in MCKD2. 1 PublicationCorresponds to variant dbSNP:rs28934584EnsemblClinVar.1
Natural variantiVAR_077514120C → G in MCKD2; serum levels severely reduced. 1 Publication1
Natural variantiVAR_025957225T → K in MCKD2; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability.
See also OMIM:609886
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025961315C → R in GCKDHI; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 2 PublicationsCorresponds to variant dbSNP:rs121917773EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi333L → K: Abolishes polymerization and filament formation of the secreted form. 1 Publication1
Mutagenesisi421I → K: Abolishes polymerization and filament formation of the secreted form. 1 Publication1
Mutagenesisi430D → L: Impairs polymerization and filament formation of the secreted form. 1 Publication1
Mutagenesisi435L → S: Impairs polymerization and filament formation of the secreted form. 1 Publication1
Mutagenesisi458V → R: Leads to retention in the endoplasmic reticulum, probably due to misfolding. 1 Publication1
Mutagenesisi586 – 589RFRS → AAAA: Abolishes cleavage by HPN. 3 Publications4
Mutagenesisi598 – 600VLN → AAA: Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization. 1 Publication3
Mutagenesisi602 – 603GP → AA: Decreased export from the endoplasmic reticulum, leading to decreased secretion. Impairs polymerization. 1 Publication2
Mutagenesisi605 – 607TRK → AAA: No effect on secretion. Does not impair polymerization. 1 Publication3

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi7369
GeneReviewsiUMOD
MalaCardsiUMOD
MIMi162000 phenotype
603860 phenotype
609886 phenotype
OpenTargetsiENSG00000169344
Orphaneti209886 Familial juvenile hyperuricemic nephropathy type 1
88950 UMOD-related autosomal dominant tubulointerstitial kidney disease
PharmGKBiPA37199

Polymorphism and mutation databases

BioMutaiUMOD
DMDMi137116

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000004167125 – 614UromodulinAdd BLAST590
ChainiPRO_000040790925 – 587Uromodulin, secreted formAdd BLAST563
PropeptideiPRO_0000041672615 – 640Removed in mature formSequence analysisAdd BLAST26

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32 ↔ 41PROSITE-ProRule annotation
Disulfide bondi35 ↔ 50PROSITE-ProRule annotation
Glycosylationi38N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi52 ↔ 63PROSITE-ProRule annotation
Disulfide bondi69 ↔ 83PROSITE-ProRule annotation
Glycosylationi76N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi77 ↔ 92PROSITE-ProRule annotation
Glycosylationi80N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi94 ↔ 106PROSITE-ProRule annotation
Disulfide bondi112 ↔ 126PROSITE-ProRule annotation
Disulfide bondi120 ↔ 135PROSITE-ProRule annotation
Disulfide bondi137 ↔ 148PROSITE-ProRule annotation
Glycosylationi232N-linked (GlcNAc...) (complex) asparagine2 Publications1
GlycosylationiCAR_000178275N-linked (GlcNAc...) asparagine1
Disulfide bondi297 ↔ 3061 Publication
Disulfide bondi300 ↔ 3151 Publication
Disulfide bondi317 ↔ 3471 Publication
Glycosylationi322N-linked (GlcNAc...) (complex) asparagine1 Publication1
Disulfide bondi335 ↔ 4251 Publication
Disulfide bondi366 ↔ 3891 Publication
Glycosylationi396N-linked (GlcNAc...) (complex) asparagine1 Publication1
Disulfide bondi506 ↔ 566PROSITE-ProRule annotation1 Publication
Disulfide bondi527 ↔ 5821 Publication
Disulfide bondi571 ↔ 5781 Publication
Lipidationi614GPI-anchor amidated serineSequence analysis1

Post-translational modificationi

N-glycosylated (PubMed:19005207, PubMed:26673890, PubMed:26811476). N-glycan heterogeneity at Asn-232: Hex7HexNAc6 (major) and dHex1Hex7HexNAc6 (minor); at Asn-322: dHex1Hex6HexNAc5 (minor), dHex1Hex7HexNAc6 (major) and dHex1Hex8HexNAc7 (minor); at Asn-396: Hex6HexNAc5 (major), dHex1Hex6HexNAc5 (minor) and Hex7HexNAc6 (minor) (PubMed:22171320).4 Publications
Proteolytically cleaved at a conserved C-terminal proteolytic cleavage site to generate the secreted form found in urine (PubMed:18375198, PubMed:19005207). This cleavage is catalyzed by HPN (PubMed:26673890).3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei587 – 588Cleavage1 Publication2

Keywords - PTMi

Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein

Proteomic databases

PaxDbiP07911
PeptideAtlasiP07911
PRIDEiP07911
ProteomicsDBi52038
52039 [P07911-2]
52040 [P07911-3]
52041 [P07911-4]

PTM databases

GlyConnecti613
iPTMnetiP07911
PhosphoSitePlusiP07911
UniCarbKBiP07911

Expressioni

Tissue specificityi

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) and of distal convoluted tubule lumen.5 Publications

Gene expression databases

BgeeiENSG00000169344 Expressed in 55 organ(s), highest expression level in renal medulla
CleanExiHS_UMOD
ExpressionAtlasiP07911 baseline and differential
GenevisibleiP07911 HS

Organism-specific databases

HPAiCAB009446
HPA043420
HPA054721

Interactioni

Subunit structurei

Uromodulin, secreted form: homodimer that then polymerizes into long filaments.3 Publications

Protein-protein interaction databases

BioGridi113216, 2 interactors
IntActiP07911, 2 interactors
STRINGi9606.ENSP00000306279

Structurei

Secondary structure

1640
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP07911
SMRiP07911
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 64EGF-like 1PROSITE-ProRule annotationAdd BLAST37
Domaini65 – 107EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini108 – 149EGF-like 3; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini334 – 589ZPPROSITE-ProRule annotationAdd BLAST256

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni430 – 453Important for secretion and polymerization into filaments1 PublicationAdd BLAST24
Regioni586 – 589Essential for cleavage by HPN3 Publications4
Regioni598 – 607Regulates polymerization into filaments1 Publication10

Domaini

The ZP domain mediates polymerization, leading to the formation of long filaments.1 Publication

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IVSV Eukaryota
ENOG410YDU6 LUCA
GeneTreeiENSGT00530000063244
HOGENOMiHOG000293303
HOVERGENiHBG004349
InParanoidiP07911
KOiK18274
PhylomeDBiP07911
TreeFamiTF330284

Family and domain databases

InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001507 ZP_dom
IPR017977 ZP_dom_CS
PfamiView protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 2 hits
PF00100 Zona_pellucida, 1 hit
PRINTSiPR00023 ZPELLUCIDA
SMARTiView protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits
SM00241 ZP, 1 hit
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 2 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 3 hits
PS01187 EGF_CA, 2 hits
PS00682 ZP_1, 1 hit
PS51034 ZP_2, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P07911-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGQPSLTWML MVVVASWFIT TAATDTSEAR WCSECHSNAT CTEDEAVTTC
60 70 80 90 100
TCQEGFTGDG LTCVDLDECA IPGAHNCSAN SSCVNTPGSF SCVCPEGFRL
110 120 130 140 150
SPGLGCTDVD ECAEPGLSHC HALATCVNVV GSYLCVCPAG YRGDGWHCEC
160 170 180 190 200
SPGSCGPGLD CVPEGDALVC ADPCQAHRTL DEYWRSTEYG EGYACDTDLR
210 220 230 240 250
GWYRFVGQGG ARMAETCVPV LRCNTAAPMW LNGTHPSSDE GIVSRKACAH
260 270 280 290 300
WSGHCCLWDA SVQVKACAGG YYVYNLTAPP ECHLAYCTDP SSVEGTCEEC
310 320 330 340 350
SIDEDCKSNN GRWHCQCKQD FNITDISLLE HRLECGANDM KVSLGKCQLK
360 370 380 390 400
SLGFDKVFMY LSDSRCSGFN DRDNRDWVSV VTPARDGPCG TVLTRNETHA
410 420 430 440 450
TYSNTLYLAD EIIIRDLNIK INFACSYPLD MKVSLKTALQ PMVSALNIRV
460 470 480 490 500
GGTGMFTVRM ALFQTPSYTQ PYQGSSVTLS TEAFLYVGTM LDGGDLSRFA
510 520 530 540 550
LLMTNCYATP SSNATDPLKY FIIQDRCPHT RDSTIQVVEN GESSQGRFSV
560 570 580 590 600
QMFRFAGNYD LVYLHCEVYL CDTMNEKCKP TCSGTRFRSG SVIDQSRVLN
610 620 630 640
LGPITRKGVQ ATVSRAFSSL GLLKVWLPLL LSATLTLTFQ
Length:640
Mass (Da):69,761
Last modified:August 1, 1988 - v1
Checksum:iD26A07A76353AE48
GO
Isoform 2 (identifier: P07911-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-199: Missing.

Note: No experimental confirmation available.
Show »
Length:507
Mass (Da):55,960
Checksum:iFBFC739EA15E3D22
GO
Isoform 3 (identifier: P07911-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-234: FVGQGGARMAETCVPVLRCNTAAPMWLNGT → P

Note: No experimental confirmation available.
Show »
Length:611
Mass (Da):66,724
Checksum:i459663CEADC74EA3
GO
Isoform 4 (identifier: P07911-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-154: Missing.

Show »
Length:618
Mass (Da):67,418
Checksum:iAF3732AED73ADEF2
GO
Isoform 5 (identifier: P07911-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     29-29: A → ARTKYNCPARWSWRTPQRGGDTEQGPDEDFTSQG

Show »
Length:673
Mass (Da):73,571
Checksum:i55D7B9D0F81974C0
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1M3I3L1M3_HUMAN
Uromodulin
UMOD
125Annotation score:
I3L4Y6I3L4Y6_HUMAN
Uromodulin
UMOD
102Annotation score:
I3L3E0I3L3E0_HUMAN
Uromodulin
UMOD
161Annotation score:
I3L3Z4I3L3Z4_HUMAN
Uromodulin
UMOD
161Annotation score:
I3L2J2I3L2J2_HUMAN
Uromodulin
UMOD
88Annotation score:
X6RBG4X6RBG4_HUMAN
Uromodulin
UMOD
689Annotation score:
I3L4B0I3L4B0_HUMAN
Uromodulin
UMOD
86Annotation score:
I3L2K2I3L2K2_HUMAN
Uromodulin
UMOD
138Annotation score:
Q8NHW8Q8NHW8_HUMAN
Uromodulin
UMOD
29Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti288T → A in BAG51560 (PubMed:14702039).Curated1
Sequence conflicti503M → I in BAG51560 (PubMed:14702039).Curated1
Sequence conflicti565H → D in AAA36799 (PubMed:3498215).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07305252C → W in HNFJ1. 1 Publication1
Natural variantiVAR_07305359D → A in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Natural variantiVAR_02595077C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917768EnsemblClinVar.1
Natural variantiVAR_02595193 – 97VCPEG → AASC in MCKD2; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein. 2 Publications5
Natural variantiVAR_017666103G → C in MCKD2. 1 PublicationCorresponds to variant dbSNP:rs28934584EnsemblClinVar.1
Natural variantiVAR_071398109V → E in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 PublicationCorresponds to variant dbSNP:rs780462125EnsemblClinVar.1
Natural variantiVAR_073054112C → R in HNFJ1. 1 Publication1
Natural variantiVAR_077514120C → G in MCKD2; serum levels severely reduced. 1 Publication1
Natural variantiVAR_025952126C → R in HNFJ1. 2 PublicationsCorresponds to variant dbSNP:rs121917769EnsemblClinVar.1
Natural variantiVAR_025953128N → S in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 PublicationsCorresponds to variant dbSNP:rs121917770EnsemblClinVar.1
Natural variantiVAR_073055135C → S in HNFJ1. 1 Publication1
Natural variantiVAR_025954148C → W in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 2 Publications1
Natural variantiVAR_017667148C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs28934582EnsemblClinVar.1
Natural variantiVAR_025955150C → S in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein. 3 Publications1
Natural variantiVAR_073056155C → R Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein. 1 Publication1
Natural variantiVAR_073057170C → Y in HNFJ1. 1 Publication1
Natural variantiVAR_073058185R → S in HNFJ1. 1 Publication1
Natural variantiVAR_073059195C → F in HNFJ1. 1 Publication1
Natural variantiVAR_073060202W → S in HNFJ1. 1 Publication1
Natural variantiVAR_073061204R → G in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Natural variantiVAR_073062217C → G in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs28934583EnsemblClinVar.1
Natural variantiVAR_017668217C → R in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 PublicationsCorresponds to variant dbSNP:rs28934583EnsemblClinVar.1
Natural variantiVAR_073063222R → P in HNFJ1. 1 Publication1
Natural variantiVAR_025956223C → Y in HNFJ1. 1 Publication1
Natural variantiVAR_025957225T → K in MCKD2; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 2 Publications1
Natural variantiVAR_073064225T → M in HNFJ1. 1 Publication1
Natural variantiVAR_071399230W → R in HNFJ1. 1 Publication1
Natural variantiVAR_073065236P → L in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs1447458978Ensembl.1
Natural variantiVAR_071400236P → Q in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_073066236P → R in HNFJ1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER. 1 Publication1
Natural variantiVAR_025958248C → W in MCKD2 and HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 2 PublicationsCorresponds to variant dbSNP:rs886043751EnsemblClinVar.1
Natural variantiVAR_025959255C → Y in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917771EnsemblClinVar.1
Natural variantiVAR_073067282C → R in HNFJ1. 1 Publication1
Natural variantiVAR_025960300C → G in HNFJ1. 1 PublicationCorresponds to variant dbSNP:rs121917772EnsemblClinVar.1
Natural variantiVAR_025961315C → R in GCKDHI; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 2 PublicationsCorresponds to variant dbSNP:rs121917773EnsemblClinVar.1
Natural variantiVAR_073068316Q → P in HNFJ1. 1 Publication1
Natural variantiVAR_025962317C → Y in HNFJ1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_073069347C → G in HNFJ1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER. 1 Publication1
Natural variantiVAR_061993458V → L. Corresponds to variant dbSNP:rs55772253EnsemblClinVar.1
Natural variantiVAR_071401461A → E in HNFJ1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05482829A → ARTKYNCPARWSWRTPQRGG DTEQGPDEDFTSQG in isoform 5. 1 Publication1
Alternative sequenceiVSP_01756567 – 199Missing in isoform 2. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_040973133 – 154Missing in isoform 4. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_017566205 – 234FVGQG…WLNGT → P in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M15881 mRNA Translation: AAA36798.1
M17778 mRNA Translation: AAA36799.1
AY162970
, AY162963, AY162964, AY162965, AY162967, AY162968, AY162969 Genomic DNA Translation: AAO64446.1
AK127643 mRNA Translation: BAC87070.1
AK055722 mRNA Translation: BAG51560.1
AK091961 mRNA Translation: BAG52451.1
AC106796 Genomic DNA No translation available.
BC035975 mRNA Translation: AAH35975.1
CCDSiCCDS10583.1 [P07911-1]
CCDS61876.1 [P07911-5]
PIRiA30452
RefSeqiNP_001008390.1, NM_001008389.2 [P07911-1]
NP_001265543.1, NM_001278614.1 [P07911-5]
NP_003352.2, NM_003361.3 [P07911-1]
UniGeneiHs.654425

Genome annotation databases

EnsembliENST00000302509; ENSP00000306279; ENSG00000169344 [P07911-1]
ENST00000396134; ENSP00000379438; ENSG00000169344 [P07911-5]
ENST00000570689; ENSP00000460548; ENSG00000169344 [P07911-1]
GeneIDi7369
KEGGihsa:7369
UCSCiuc002dgz.5 human [P07911-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M15881 mRNA Translation: AAA36798.1
M17778 mRNA Translation: AAA36799.1
AY162970
, AY162963, AY162964, AY162965, AY162967, AY162968, AY162969 Genomic DNA Translation: AAO64446.1
AK127643 mRNA Translation: BAC87070.1
AK055722 mRNA Translation: BAG51560.1
AK091961 mRNA Translation: BAG52451.1
AC106796 Genomic DNA No translation available.
BC035975 mRNA Translation: AAH35975.1
CCDSiCCDS10583.1 [P07911-1]
CCDS61876.1 [P07911-5]
PIRiA30452
RefSeqiNP_001008390.1, NM_001008389.2 [P07911-1]
NP_001265543.1, NM_001278614.1 [P07911-5]
NP_003352.2, NM_003361.3 [P07911-1]
UniGeneiHs.654425

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4WRNX-ray3.20A/B295-610[»]
ProteinModelPortaliP07911
SMRiP07911
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113216, 2 interactors
IntActiP07911, 2 interactors
STRINGi9606.ENSP00000306279

PTM databases

GlyConnecti613
iPTMnetiP07911
PhosphoSitePlusiP07911
UniCarbKBiP07911

Polymorphism and mutation databases

BioMutaiUMOD
DMDMi137116

Proteomic databases

PaxDbiP07911
PeptideAtlasiP07911
PRIDEiP07911
ProteomicsDBi52038
52039 [P07911-2]
52040 [P07911-3]
52041 [P07911-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302509; ENSP00000306279; ENSG00000169344 [P07911-1]
ENST00000396134; ENSP00000379438; ENSG00000169344 [P07911-5]
ENST00000570689; ENSP00000460548; ENSG00000169344 [P07911-1]
GeneIDi7369
KEGGihsa:7369
UCSCiuc002dgz.5 human [P07911-1]

Organism-specific databases

CTDi7369
DisGeNETi7369
EuPathDBiHostDB:ENSG00000169344.15
GeneCardsiUMOD
GeneReviewsiUMOD
H-InvDBiHIX0012858
HGNCiHGNC:12559 UMOD
HPAiCAB009446
HPA043420
HPA054721
MalaCardsiUMOD
MIMi162000 phenotype
191845 gene
603860 phenotype
609886 phenotype
neXtProtiNX_P07911
OpenTargetsiENSG00000169344
Orphaneti209886 Familial juvenile hyperuricemic nephropathy type 1
88950 UMOD-related autosomal dominant tubulointerstitial kidney disease
PharmGKBiPA37199
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVSV Eukaryota
ENOG410YDU6 LUCA
GeneTreeiENSGT00530000063244
HOGENOMiHOG000293303
HOVERGENiHBG004349
InParanoidiP07911
KOiK18274
PhylomeDBiP07911
TreeFamiTF330284

Enzyme and pathway databases

ReactomeiR-HSA-446203 Asparagine N-linked glycosylation
SIGNORiP07911

Miscellaneous databases

GeneWikiiTamm%E2%80%93Horsfall_protein
GenomeRNAii7369
PROiPR:P07911
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169344 Expressed in 55 organ(s), highest expression level in renal medulla
CleanExiHS_UMOD
ExpressionAtlasiP07911 baseline and differential
GenevisibleiP07911 HS

Family and domain databases

InterProiView protein in InterPro
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001507 ZP_dom
IPR017977 ZP_dom_CS
PfamiView protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 2 hits
PF00100 Zona_pellucida, 1 hit
PRINTSiPR00023 ZPELLUCIDA
SMARTiView protein in SMART
SM00181 EGF, 3 hits
SM00179 EGF_CA, 2 hits
SM00241 ZP, 1 hit
SUPFAMiSSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 2 hits
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 3 hits
PS01187 EGF_CA, 2 hits
PS00682 ZP_1, 1 hit
PS51034 ZP_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUROM_HUMAN
AccessioniPrimary (citable) accession number: P07911
Secondary accession number(s): B3KP48
, B3KRN9, E9PEA4, Q540J6, Q6ZS84, Q8IYG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: August 1, 1988
Last modified: November 7, 2018
This is version 187 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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