UPK1A_HUMAN
ID UPK1A_HUMAN Reviewed; 258 AA.
AC O00322; Q3KNU5; Q3KNU6;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-1997, sequence version 1.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=Uroplakin-1a;
DE Short=UP1a;
DE AltName: Full=Tetraspanin-21;
DE Short=Tspan-21;
DE AltName: Full=Uroplakin Ia;
DE Short=UPIa;
DE Short=UPKa;
GN Name=UPK1A; Synonyms=TSPAN21;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP THR-257.
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 3-258 (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Ureter;
RX PubMed=15913809; DOI=10.1016/j.bbaexp.2005.04.004;
RA Hall G.D., Weeks R.J., Olsburgh J., Southgate J., Knowles M.A., Selby P.J.,
RA Chester J.D.;
RT "Transcriptional control of the human urothelial-specific gene, uroplakin
RT Ia.";
RL Biochim. Biophys. Acta 1729:126-134(2005).
RN [4]
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., Selby P.J.,
RA Trejdosiewicz L.K., Southgate J.;
RT "Uroplakin gene expression by normal and neoplastic human urothelium.";
RL Am. J. Pathol. 153:1957-1967(1998).
CC -!- FUNCTION: Component of the asymmetric unit membrane (AUM); a highly
CC specialized biomembrane elaborated by terminally differentiated
CC urothelial cells. May play an important role in normal bladder
CC epithelial physiology, possibly in regulating membrane permeability of
CC superficial umbrella cells or in stabilizing the apical membrane
CC through AUM/cytoskeletal interactions (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2)
CC (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC O00322; P35247: SFTPD; NbExp=3; IntAct=EBI-14031976, EBI-11316157;
CC O00322; P08191: fimH; Xeno; NbExp=2; IntAct=EBI-14031976, EBI-1028015;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O00322-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O00322-2; Sequence=VSP_030005;
CC -!- TISSUE SPECIFICITY: High expression restricted to ureteric urothelium
CC (most superficial cells); low expression in prostate. Expression in
CC normal urothelial cells is lost in culture. Some expression in tumor
CC cell lines derived from urothelial malignancies.
CC {ECO:0000269|PubMed:15913809, ECO:0000269|PubMed:9846985}.
CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) 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; AC002115; AAB57631.1; -; Genomic_DNA.
DR EMBL; AC002314; AAB62736.1; -; Genomic_DNA.
DR EMBL; BC107097; AAI07098.1; -; mRNA.
DR EMBL; BC107098; AAI07099.1; -; mRNA.
DR EMBL; AF085807; AAC34887.1; -; mRNA.
DR CCDS; CCDS12470.1; -. [O00322-1]
DR CCDS; CCDS62640.1; -. [O00322-2]
DR RefSeq; NP_001268372.1; NM_001281443.1. [O00322-2]
DR RefSeq; NP_008931.1; NM_007000.3. [O00322-1]
DR AlphaFoldDB; O00322; -.
DR BioGRID; 116233; 243.
DR IntAct; O00322; 82.
DR MINT; O00322; -.
DR STRING; 9606.ENSP00000478942; -.
DR TCDB; 8.A.40.7.1; the tetraspanin (tetraspanin) family.
DR GlyGen; O00322; 1 site.
DR PhosphoSitePlus; O00322; -.
DR BioMuta; UPK1A; -.
DR jPOST; O00322; -.
DR MassIVE; O00322; -.
DR PaxDb; O00322; -.
DR PeptideAtlas; O00322; -.
DR PRIDE; O00322; -.
DR ProteomicsDB; 47838; -. [O00322-1]
DR ProteomicsDB; 47839; -. [O00322-2]
DR Antibodypedia; 54114; 140 antibodies from 26 providers.
DR DNASU; 11045; -.
DR Ensembl; ENST00000222275.2; ENSP00000222275.2; ENSG00000105668.7. [O00322-1]
DR Ensembl; ENST00000379013.6; ENSP00000368298.1; ENSG00000105668.7. [O00322-2]
DR Ensembl; ENST00000616789.4; ENSP00000478942.1; ENSG00000105668.7. [O00322-2]
DR Ensembl; ENST00000617999.4; ENSP00000483176.1; ENSG00000105668.7. [O00322-1]
DR GeneID; 11045; -.
DR KEGG; hsa:11045; -.
DR MANE-Select; ENST00000222275.3; ENSP00000222275.2; NM_007000.4; NP_008931.1.
DR UCSC; uc002oaw.5; human. [O00322-1]
DR CTD; 11045; -.
DR DisGeNET; 11045; -.
DR GeneCards; UPK1A; -.
DR HGNC; HGNC:12577; UPK1A.
DR HPA; ENSG00000105668; Tissue enhanced (esophagus, urinary bladder, vagina).
DR MIM; 611557; gene.
DR neXtProt; NX_O00322; -.
DR OpenTargets; ENSG00000105668; -.
DR PharmGKB; PA37209; -.
DR VEuPathDB; HostDB:ENSG00000105668; -.
DR eggNOG; KOG3882; Eukaryota.
DR GeneTree; ENSGT00940000160881; -.
DR HOGENOM; CLU_088971_1_0_1; -.
DR InParanoid; O00322; -.
DR OMA; HVDYLFT; -.
DR OrthoDB; 944403at2759; -.
DR PhylomeDB; O00322; -.
DR TreeFam; TF335659; -.
DR PathwayCommons; O00322; -.
DR SignaLink; O00322; -.
DR BioGRID-ORCS; 11045; 36 hits in 1069 CRISPR screens.
DR GeneWiki; UPK1A; -.
DR GenomeRNAi; 11045; -.
DR Pharos; O00322; Tbio.
DR PRO; PR:O00322; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O00322; protein.
DR Bgee; ENSG00000105668; Expressed in lower esophagus mucosa and 94 other tissues.
DR Genevisible; O00322; HS.
DR GO; GO:0120001; C:apical plasma membrane urothelial plaque; IEA:Ensembl.
DR GO; GO:0009986; C:cell surface; IDA:AgBase.
DR GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; ISS:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; ISS:UniProtKB.
DR GO; GO:0030855; P:epithelial cell differentiation; IDA:UniProtKB.
DR Gene3D; 1.10.1450.10; -; 1.
DR InterPro; IPR018499; Tetraspanin/Peripherin.
DR InterPro; IPR000301; Tetraspanin_animals.
DR InterPro; IPR008952; Tetraspanin_EC2_sf.
DR InterPro; IPR034765; Uroplakin-1a.
DR PANTHER; PTHR19282; PTHR19282; 1.
DR PANTHER; PTHR19282:SF25; PTHR19282:SF25; 1.
DR Pfam; PF00335; Tetraspanin; 1.
DR PIRSF; PIRSF002419; Tetraspanin; 1.
DR SUPFAM; SSF48652; SSF48652; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..258
FT /note="Uroplakin-1a"
FT /id="PRO_0000219286"
FT TOPO_DOM 1..14
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 15..35
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 36..59
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 60..86
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 87..91
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 113..230
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 231..252
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 253..258
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 170
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 217..258
FT /note="GCFEHIGHAIDSYTWGISWFGFAILMWTLPVMLIAMYFYTML -> AGVQWH
FT NLSSLQRLPPGFKGFSHLSFQSSWDYRAASNTSATPSTATRGVSRGLGLPS (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030005"
FT VARIANT 33
FT /note="S -> A (in dbSNP:rs2267586)"
FT /id="VAR_052332"
FT VARIANT 257
FT /note="M -> T (in dbSNP:rs2285421)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_020094"
SQ SEQUENCE 258 AA; 28879 MW; 79AF29E0DAEC4E44 CRC64;
MASAAAAEAE KGSPVVVGLL VVGNIIILLS GLSLFAETIW VTADQYRVYP LMGVSGKDDV
FAGAWIAIFC GFSFFMVASF GVGAALCRRR SMVLTYLVLM LIVYIFECAS CITSYTHRDY
MVSNPSLITK QMLTFYSADT DQGQELTRLW DRVMIEQECC GTSGPMDWVN FTSAFRAATP
EVVFPWPPLC CRRTGNFIPL NEEGCRLGHM DYLFTKGCFE HIGHAIDSYT WGISWFGFAI
LMWTLPVMLI AMYFYTML
