ID UPK3A_HUMAN Reviewed; 287 AA. AC O75631; B0QY25; O60261; Q32N05; Q5TII6; DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot. DT 11-OCT-2004, sequence version 3. DT 13-FEB-2019, entry version 143. DE RecName: Full=Uroplakin-3a; DE Short=UP3a; DE AltName: Full=Uroplakin III; DE Short=UPIII; DE Flags: Precursor; GN Name=UPK3A; Synonyms=UPK3; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RC TISSUE=Ureter; RA Geall K., Hall G., Smith B., Southgate J.; RL Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT PRO-154. RC TISSUE=Urinary bladder urothelium; RX PubMed=9818021; DOI=10.1111/j.1349-7006.1998.tb00643.x; RA Yuasa T., Yoshiki T., Tanaka T., Kim C.J., Isono T., Okada Y.; RT "Expression of uroplakin Ib and uroplakin III genes in tissues and RT peripheral blood of patients with transitional cell carcinoma."; RL Jpn. J. Cancer Res. 89:879-882(1998). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84; RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., RA Beare D.M., Dunham I.; RT "A genome annotation-driven approach to cloning the human ORFeome."; RL Genome Biol. 5:R84.1-R84.11(2004). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=10591208; DOI=10.1038/990031; RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., RA Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., RA Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., RA Bird C.P., Blakey S.E., Bridgeman A.M., Buck D., Burgess J., RA Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., RA Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., RA Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., RA Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., RA Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., RA Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., RA Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., RA Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., RA Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., RA Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., RA Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., RA Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., RA Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., RA Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., RA Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., RA Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., RA Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., RA Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., RA Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., RA Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., RA Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., RA Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., RA Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., RA Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., RA Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., RA Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., RA Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., RA Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., RA Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., RA O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., RA Khan A.S., Lane L., Tilahun Y., Wright H.; RT "The DNA sequence of human chromosome 22."; RL Nature 402:489-495(1999). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP TISSUE SPECIFICITY. RX PubMed=9846985; DOI=10.1016/S0002-9440(10)65709-4; RA Lobban E.D., Smith B.A., Hall G.D., Harnden P., Roberts P., RA Selby P.J., Trejdosiewicz L.K., Southgate J.; RT "Uroplakin gene expression by normal and neoplastic human RT urothelium."; RL Am. J. Pathol. 153:1957-1967(1998). RN [7] RP VARIANT LEU-273, POSSIBLE INVOLVEMENT IN KIDNEY AND URINARY TRACT RP ANOMALIES, AND CHARACTERIZATION OF VARIANT LEU-273. RX PubMed=15888565; DOI=10.1681/ASN.2004090776; RA Jenkins D., Bitner-Glindzicz M., Malcolm S., Hu C.-C.A., Allison J., RA Winyard P.J.D., Gullett A.M., Thomas D.F.M., Belk R.A., Feather S.A., RA Sun T.-T., Woolf A.S.; RT "De novo Uroplakin IIIa heterozygous mutations cause human renal RT adysplasia leading to severe kidney failure."; RL J. Am. Soc. Nephrol. 16:2141-2149(2005). RN [8] RP VARIANT ASP-202, AND POSSIBLE INVOLVEMENT IN KIDNEY AND URINARY TRACT RP ANOMALIES. RX PubMed=16731295; DOI=10.1053/j.ajkd.2006.02.177; RA Schoenfelder E.-M., Knueppel T., Tasic V., Miljkovic P., Konrad M., RA Wuehl E., Antignac C., Bakkaloglu A., Schaefer F., Weber S.; RT "Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia RT in humans."; RL Am. J. Kidney Dis. 47:1004-1012(2006). CC -!- FUNCTION: Component of the asymmetric unit membrane (AUM); a CC highly specialized biomembrane elaborated by terminally CC differentiated urothelial cells. May play an important role in CC AUM-cytoskeleton interaction in terminally differentiated CC urothelial cells. It also contributes to the formation of CC urothelial glycocalyx which may play an important role in CC preventing bacterial adherence (By similarity). {ECO:0000250}. CC -!- SUBUNIT: Heterodimer with uroplakin-1B (UPK1B). {ECO:0000250}. CC -!- INTERACTION: CC O43765:SGTA; NbExp=3; IntAct=EBI-10188907, EBI-347996; CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane CC {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. CC Note=Heterodimer formation with UPK1B is a prerequisite to exit CC out of the endoplasmic reticulum (ER). {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=O75631-1; Sequence=Displayed; CC Name=2; CC IsoId=O75631-2; Sequence=VSP_030004; CC -!- TISSUE SPECIFICITY: Expressed in ureter. CC {ECO:0000269|PubMed:9846985}. CC -!- DISEASE: Note=Mutations in UPK3A have been detected in patients CC with renal adyplasia suggesting a possible involvement of this CC gene in kidney and urinary tract anomalies. CC -!- SIMILARITY: Belongs to the uroplakin-3 family. {ECO:0000305}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AF085808; AAC34888.1; -; mRNA. DR EMBL; AB010637; BAA31460.1; -; mRNA. DR EMBL; AB010116; BAA25678.1; -; mRNA. DR EMBL; CR456608; CAG30494.1; -; mRNA. DR EMBL; AL008718; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC069544; AAH69544.1; -; mRNA. DR EMBL; BC108900; AAI08901.1; -; mRNA. DR CCDS; CCDS14064.1; -. [O75631-1] DR CCDS; CCDS54539.1; -. [O75631-2] DR RefSeq; NP_001161046.1; NM_001167574.1. [O75631-2] DR RefSeq; NP_008884.1; NM_006953.3. [O75631-1] DR UniGene; Hs.632787; -. DR ProteinModelPortal; O75631; -. DR BioGrid; 113226; 2. DR IntAct; O75631; 2. DR STRING; 9606.ENSP00000216211; -. DR TCDB; 8.A.90.2.1; the uroplakin 2/3 (upk2/3) family. DR iPTMnet; O75631; -. DR PhosphoSitePlus; O75631; -. DR BioMuta; UPK3A; -. DR PaxDb; O75631; -. DR PeptideAtlas; O75631; -. DR PRIDE; O75631; -. DR ProteomicsDB; 50129; -. DR ProteomicsDB; 50130; -. [O75631-2] DR DNASU; 7380; -. DR Ensembl; ENST00000216211; ENSP00000216211; ENSG00000100373. [O75631-1] DR Ensembl; ENST00000396082; ENSP00000379391; ENSG00000100373. [O75631-2] DR GeneID; 7380; -. DR KEGG; hsa:7380; -. DR UCSC; uc003bfy.4; human. [O75631-1] DR CTD; 7380; -. DR DisGeNET; 7380; -. DR EuPathDB; HostDB:ENSG00000100373.9; -. DR GeneCards; UPK3A; -. DR HGNC; HGNC:12580; UPK3A. DR HPA; HPA018407; -. DR HPA; HPA018415; -. DR MalaCards; UPK3A; -. DR MIM; 611559; gene. DR neXtProt; NX_O75631; -. DR OpenTargets; ENSG00000100373; -. DR Orphanet; 93100; Renal agenesis, unilateral. DR PharmGKB; PA37212; -. DR eggNOG; ENOG410IE9T; Eukaryota. DR eggNOG; ENOG41123W4; LUCA. DR GeneTree; ENSGT00940000153392; -. DR HOGENOM; HOG000143412; -. DR HOVERGEN; HBG058769; -. DR InParanoid; O75631; -. DR KO; K19520; -. DR OMA; TEYRFKY; -. DR OrthoDB; 577034at2759; -. DR PhylomeDB; O75631; -. DR TreeFam; TF336628; -. DR GeneWiki; UPK3A; -. DR GenomeRNAi; 7380; -. DR PRO; PR:O75631; -. DR Proteomes; UP000005640; Chromosome 22. DR Bgee; ENSG00000100373; Expressed in 71 organ(s), highest expression level in urinary bladder. DR Genevisible; O75631; HS. DR GO; GO:0120001; C:apical plasma membrane urothelial plaque; IEA:Ensembl. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl. DR GO; GO:0030855; P:epithelial cell differentiation; IDA:UniProtKB. DR GO; GO:0001822; P:kidney development; IEA:Ensembl. DR GO; GO:0055075; P:potassium ion homeostasis; IEA:Ensembl. DR GO; GO:0055078; P:sodium ion homeostasis; IEA:Ensembl. DR GO; GO:0015840; P:urea transport; IEA:Ensembl. DR GO; GO:0060157; P:urinary bladder development; IEA:Ensembl. DR GO; GO:0006833; P:water transport; IEA:Ensembl. DR InterPro; IPR024831; Uroplakin-3. DR InterPro; IPR024825; Uroplakin-3a. DR PANTHER; PTHR15446; PTHR15446; 1. DR PANTHER; PTHR15446:SF17; PTHR15446:SF17; 1. PE 1: Evidence at protein level; KW Alternative splicing; Complete proteome; Disease mutation; KW Endoplasmic reticulum; Glycoprotein; Membrane; Polymorphism; KW Reference proteome; Signal; Transmembrane; Transmembrane helix. FT SIGNAL 1 18 {ECO:0000250}. FT CHAIN 19 287 Uroplakin-3a. FT /FTId=PRO_0000022637. FT TOPO_DOM 19 207 Lumenal. {ECO:0000255}. FT TRANSMEM 208 235 Helical. {ECO:0000255}. FT TOPO_DOM 236 287 Cytoplasmic. {ECO:0000255}. FT CARBOHYD 74 74 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 139 139 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT CARBOHYD 170 170 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT VAR_SEQ 70 191 AISRNASVQDSTNTPLGSTFLQTEGGRTGPYKAVAFDLIPC FT SDLPSLDAIGDVSKASQILNAYLVRVGANGTCLWDPNFQGL FT CNAPLSAATEYRFKYVLVNMSTGLVEDQTLWSDPIRTNQL FT -> V (in isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_030004. FT VARIANT 91 91 Q -> L (in dbSNP:rs6006979). FT /FTId=VAR_044399. FT VARIANT 154 154 A -> P (in dbSNP:rs1057353). FT {ECO:0000269|PubMed:9818021}. FT /FTId=VAR_020158. FT VARIANT 202 202 G -> D (found in a patient with FT unilateral multicystic kidney disease; FT unknown pathological significance; FT dbSNP:rs121918187). FT {ECO:0000269|PubMed:16731295}. FT /FTId=VAR_044400. FT VARIANT 273 273 P -> L (found in patients with renal FT adysplasia; unknown pathological FT significance; normal targeting to the FT cell surface; dbSNP:rs121918186). FT {ECO:0000269|PubMed:15888565}. FT /FTId=VAR_044401. FT CONFLICT 236 236 D -> A (in Ref. 2; BAA31460/BAA25678). FT {ECO:0000305}. SQ SEQUENCE 287 AA; 30670 MW; 2A14B21746FDBD25 CRC64; MPPLWALLAL GCLRFGSAVN LQPQLASVTF ATNNPTLTTV ALEKPLCMFD SKEALTGTHE VYLYVLVDSA ISRNASVQDS TNTPLGSTFL QTEGGRTGPY KAVAFDLIPC SDLPSLDAIG DVSKASQILN AYLVRVGANG TCLWDPNFQG LCNAPLSAAT EYRFKYVLVN MSTGLVEDQT LWSDPIRTNQ LTPYSTIDTW PGRRSGGMIV ITSILGSLPF FLLVGFAGAI ALSLVDMGSS DGETTHDSQI TQEAVPKSLG ASESSYTSVN RGPPLDRAEV YSSKLQD //