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Protein

Uroplakin-3a

Gene

UPK3A

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

Functioni

Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity).By similarity

GO - Biological processi

Protein family/group databases

TCDBi8.A.90.2.1 the uroplakin 2/3 (upk2/3) family

Names & Taxonomyi

Protein namesi
Recommended name:
Uroplakin-3a
Short name:
UP3a
Alternative name(s):
Uroplakin III
Short name:
UPIII
Gene namesi
Name:UPK3A
Synonyms:UPK3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100373.9
HGNCiHGNC:12580 UPK3A
MIMi611559 gene
neXtProtiNX_O75631

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini19 – 207LumenalSequence analysisAdd BLAST189
Transmembranei208 – 235HelicalSequence analysisAdd BLAST28
Topological domaini236 – 287CytoplasmicSequence analysisAdd BLAST52

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mutations in UPK3A have been detected in patients with renal adyplasia suggesting a possible involvement of this gene in kidney and urinary tract anomalies.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi7380
MalaCardsiUPK3A
OpenTargetsiENSG00000100373
Orphaneti93100 Renal agenesis, unilateral
PharmGKBiPA37212

Polymorphism and mutation databases

BioMutaiUPK3A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 18By similarityAdd BLAST18
ChainiPRO_000002263719 – 287Uroplakin-3aAdd BLAST269

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi139N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi170N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiO75631
PeptideAtlasiO75631
PRIDEiO75631
ProteomicsDBi50129
50130 [O75631-2]

PTM databases

iPTMnetiO75631
PhosphoSitePlusiO75631

Expressioni

Tissue specificityi

Expressed in ureter.1 Publication

Gene expression databases

BgeeiENSG00000100373 Expressed in 71 organ(s), highest expression level in urinary bladder
CleanExiHS_UPK3A
GenevisibleiO75631 HS

Organism-specific databases

HPAiHPA018407
HPA018415

Interactioni

Subunit structurei

Heterodimer with uroplakin-1B (UPK1B).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO437653EBI-10188907,EBI-347996

Protein-protein interaction databases

BioGridi113226, 2 interactors
IntActiO75631, 2 interactors
STRINGi9606.ENSP00000216211

Structurei

3D structure databases

ProteinModelPortaliO75631
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the uroplakin-3 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IE9T Eukaryota
ENOG41123W4 LUCA
GeneTreeiENSGT00510000048620
HOGENOMiHOG000143412
HOVERGENiHBG058769
InParanoidiO75631
KOiK19520
OMAiTEYRFKY
OrthoDBiEOG091G0F7J
PhylomeDBiO75631
TreeFamiTF336628

Family and domain databases

InterProiView protein in InterPro
IPR024831 Uroplakin-3
IPR024825 Uroplakin-3a
PANTHERiPTHR15446 PTHR15446, 1 hit
PTHR15446:SF17 PTHR15446:SF17, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: O75631-1) [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
MPPLWALLAL GCLRFGSAVN LQPQLASVTF ATNNPTLTTV ALEKPLCMFD
60 70 80 90 100
SKEALTGTHE VYLYVLVDSA ISRNASVQDS TNTPLGSTFL QTEGGRTGPY
110 120 130 140 150
KAVAFDLIPC SDLPSLDAIG DVSKASQILN AYLVRVGANG TCLWDPNFQG
160 170 180 190 200
LCNAPLSAAT EYRFKYVLVN MSTGLVEDQT LWSDPIRTNQ LTPYSTIDTW
210 220 230 240 250
PGRRSGGMIV ITSILGSLPF FLLVGFAGAI ALSLVDMGSS DGETTHDSQI
260 270 280
TQEAVPKSLG ASESSYTSVN RGPPLDRAEV YSSKLQD
Length:287
Mass (Da):30,670
Last modified:October 11, 2004 - v3
Checksum:i2A14B21746FDBD25
GO
Isoform 2 (identifier: O75631-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-191: AISRNASVQD...WSDPIRTNQL → V

Show »
Length:166
Mass (Da):17,672
Checksum:i9D03D8AFADEA55B6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti236D → A in BAA31460 (PubMed:9818021).Curated1
Sequence conflicti236D → A in BAA25678 (PubMed:9818021).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04439991Q → L. Corresponds to variant dbSNP:rs6006979Ensembl.1
Natural variantiVAR_020158154A → P1 PublicationCorresponds to variant dbSNP:rs1057353EnsemblClinVar.1
Natural variantiVAR_044400202G → D Found in a patient with unilateral multicystic kidney disease; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121918187EnsemblClinVar.1
Natural variantiVAR_044401273P → L Found in patients with renal adysplasia; unknown pathological significance; normal targeting to the cell surface. 1 PublicationCorresponds to variant dbSNP:rs121918186EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03000470 – 191AISRN…RTNQL → V in isoform 2. 1 PublicationAdd BLAST122

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF085808 mRNA Translation: AAC34888.1
AB010637 mRNA Translation: BAA31460.1
AB010116 mRNA Translation: BAA25678.1
CR456608 mRNA Translation: CAG30494.1
AL008718 Genomic DNA No translation available.
BC069544 mRNA Translation: AAH69544.1
BC108900 mRNA Translation: AAI08901.1
CCDSiCCDS14064.1 [O75631-1]
CCDS54539.1 [O75631-2]
RefSeqiNP_001161046.1, NM_001167574.1 [O75631-2]
NP_008884.1, NM_006953.3 [O75631-1]
UniGeneiHs.632787

Genome annotation databases

EnsembliENST00000216211; ENSP00000216211; ENSG00000100373 [O75631-1]
ENST00000396082; ENSP00000379391; ENSG00000100373 [O75631-2]
GeneIDi7380
KEGGihsa:7380
UCSCiuc003bfy.4 human [O75631-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF085808 mRNA Translation: AAC34888.1
AB010637 mRNA Translation: BAA31460.1
AB010116 mRNA Translation: BAA25678.1
CR456608 mRNA Translation: CAG30494.1
AL008718 Genomic DNA No translation available.
BC069544 mRNA Translation: AAH69544.1
BC108900 mRNA Translation: AAI08901.1
CCDSiCCDS14064.1 [O75631-1]
CCDS54539.1 [O75631-2]
RefSeqiNP_001161046.1, NM_001167574.1 [O75631-2]
NP_008884.1, NM_006953.3 [O75631-1]
UniGeneiHs.632787

3D structure databases

ProteinModelPortaliO75631
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113226, 2 interactors
IntActiO75631, 2 interactors
STRINGi9606.ENSP00000216211

Protein family/group databases

TCDBi8.A.90.2.1 the uroplakin 2/3 (upk2/3) family

PTM databases

iPTMnetiO75631
PhosphoSitePlusiO75631

Polymorphism and mutation databases

BioMutaiUPK3A

Proteomic databases

PaxDbiO75631
PeptideAtlasiO75631
PRIDEiO75631
ProteomicsDBi50129
50130 [O75631-2]

Protocols and materials databases

DNASUi7380
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216211; ENSP00000216211; ENSG00000100373 [O75631-1]
ENST00000396082; ENSP00000379391; ENSG00000100373 [O75631-2]
GeneIDi7380
KEGGihsa:7380
UCSCiuc003bfy.4 human [O75631-1]

Organism-specific databases

CTDi7380
DisGeNETi7380
EuPathDBiHostDB:ENSG00000100373.9
GeneCardsiUPK3A
HGNCiHGNC:12580 UPK3A
HPAiHPA018407
HPA018415
MalaCardsiUPK3A
MIMi611559 gene
neXtProtiNX_O75631
OpenTargetsiENSG00000100373
Orphaneti93100 Renal agenesis, unilateral
PharmGKBiPA37212
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE9T Eukaryota
ENOG41123W4 LUCA
GeneTreeiENSGT00510000048620
HOGENOMiHOG000143412
HOVERGENiHBG058769
InParanoidiO75631
KOiK19520
OMAiTEYRFKY
OrthoDBiEOG091G0F7J
PhylomeDBiO75631
TreeFamiTF336628

Miscellaneous databases

GeneWikiiUPK3A
GenomeRNAii7380
PROiPR:O75631
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100373 Expressed in 71 organ(s), highest expression level in urinary bladder
CleanExiHS_UPK3A
GenevisibleiO75631 HS

Family and domain databases

InterProiView protein in InterPro
IPR024831 Uroplakin-3
IPR024825 Uroplakin-3a
PANTHERiPTHR15446 PTHR15446, 1 hit
PTHR15446:SF17 PTHR15446:SF17, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiUPK3A_HUMAN
AccessioniPrimary (citable) accession number: O75631
Secondary accession number(s): B0QY25
, O60261, Q32N05, Q5TII6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 11, 2004
Last modified: November 7, 2018
This is version 140 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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