ID B2R812_HUMAN Unreviewed; 640 AA. AC B2R812; DT 01-JUL-2008, integrated into UniProtKB/TrEMBL. DT 01-JUL-2008, sequence version 1. DT 25-MAY-2022, entry version 101. DE SubName: Full=Amiloride-sensitive sodium channel subunit beta 1 {ECO:0000313|EMBL:ACS13724.1}; DE SubName: Full=Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome), isoform CRA_b {ECO:0000313|EMBL:EAW55834.1}; DE SubName: Full=cDNA, FLJ93691, highly similar to Homo sapiens sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) (SCNN1B), mRNA {ECO:0000313|EMBL:BAG36009.1}; GN Name=SCNN1B {ECO:0000313|EMBL:ACS13724.1}; GN ORFNames=hCG_23853 {ECO:0000313|EMBL:EAW55834.1}; 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 {ECO:0000313|EMBL:BAG36009.1}; RN [1] {ECO:0000313|EMBL:EAW55834.1} RP NUCLEOTIDE SEQUENCE. RX PubMed=11181995; DOI=10.1126/science.1058040; RA Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., RA Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., RA Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H., RA Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J., RA Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J., RA McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C., RA Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M., RA Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C., RA Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K., RA Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R., RA Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K., RA Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P., RA Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y., RA Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N., RA Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B., RA Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J., RA Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W., RA Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S., RA Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T., RA Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I., RA Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L., RA Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L., RA Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C., RA Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C., RA Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D., RA McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B., RA Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M., RA Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C., RA Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S., RA Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S., RA Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R., RA Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B., RA Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S., RA Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S., RA Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J., RA Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M., RA Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S., RA Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M., RA Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J., RA Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J., RA Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N., RA Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J., RA Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E., RA Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.; RT "The sequence of the human genome."; RL Science 291:1304-1351(2001). RN [2] {ECO:0000313|EMBL:EAW55834.1} RP NUCLEOTIDE SEQUENCE. RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [3] {ECO:0000313|EMBL:BAG36009.1} RP NUCLEOTIDE SEQUENCE. RC TISSUE=Kidney {ECO:0000313|EMBL:BAG36009.1}; RA Wakamatsu A., Yamamoto J., Kimura K., Kaida T., Tsuchiya K., Iida Y., RA Takayama Y., Murakawa K., Kanehori K., Andoh T., Kagawa N., Sato R., RA Kawamura Y., Tanaka S., Kisu Y., Sugano S., Goshima N., Nomura N., RA Isogai T.; RT "NEDO functional analysis of protein and research application project."; RL Submitted (JAN-2008) to the EMBL/GenBank/DDBJ databases. RN [4] {ECO:0000313|EMBL:ACS13724.1} RP NUCLEOTIDE SEQUENCE. RC STRAIN=SCNN1B-VI-T {ECO:0000313|EMBL:ACS13724.1}; RA Stockwell T.B., Busam D.A., Ferriera S.M., Brownley A.N., Strausberg R.L., RA Kirkness E.F., Rogers Y.-H., Levy S.; RL Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases. CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000256|ARBA:ARBA00004141}; Multi- CC pass membrane protein {ECO:0000256|ARBA:ARBA00004141}. 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; FJ515831; ACS13724.1; -; Genomic_DNA. DR EMBL; AK313192; BAG36009.1; -; mRNA. DR EMBL; CH471145; EAW55834.1; -; Genomic_DNA. DR RefSeq; NP_000327.2; NM_000336.2. DR Antibodypedia; 2607; 476 antibodies from 31 providers. DR DNASU; 6338; -. DR GeneID; 6338; -. DR KEGG; hsa:6338; -. DR MANE-Select; ENST00000343070.7; ENSP00000345751.2; NM_000336.3; NP_000327.2. DR CTD; 6338; -. DR PharmGKB; PA306; -. DR VEuPathDB; HostDB:ENSG00000168447; -. DR OrthoDB; 686369at2759; -. DR BioGRID-ORCS; 6338; 7 hits in 1067 CRISPR screens. DR ChiTaRS; SCNN1B; human. DR GenomeRNAi; 6338; -. DR Bgee; ENSG00000168447; Expressed in ectocervix and 151 other tissues. DR GO; GO:0009897; C:external side of plasma membrane; IEA:Ensembl. DR GO; GO:0034706; C:sodium channel complex; IEA:Ensembl. DR GO; GO:0015280; F:ligand-gated sodium channel activity; IEA:Ensembl. DR GO; GO:0050699; F:WW domain binding; IEA:Ensembl. DR GO; GO:0032341; P:aldosterone metabolic process; IEA:Ensembl. DR GO; GO:0014824; P:artery smooth muscle contraction; IEA:Ensembl. DR GO; GO:1904045; P:cellular response to aldosterone; IEA:Ensembl. DR GO; GO:0036254; P:cellular response to amiloride; IEA:Ensembl. DR GO; GO:0006883; P:cellular sodium ion homeostasis; IEA:Ensembl. DR GO; GO:0042045; P:epithelial fluid transport; IEA:Ensembl. DR GO; GO:0034101; P:erythrocyte homeostasis; IEA:Ensembl. DR GO; GO:0010467; P:gene expression; IEA:Ensembl. DR GO; GO:0002269; P:leukocyte activation involved in inflammatory response; IEA:Ensembl. DR GO; GO:0070254; P:mucus secretion; IEA:Ensembl. DR GO; GO:0035264; P:multicellular organism growth; IEA:Ensembl. DR GO; GO:0050891; P:multicellular organismal water homeostasis; IEA:Ensembl. DR GO; GO:0002283; P:neutrophil activation involved in immune response; IEA:Ensembl. DR GO; GO:0070944; P:neutrophil-mediated killing of bacterium; IEA:Ensembl. DR GO; GO:0055075; P:potassium ion homeostasis; IEA:Ensembl. DR GO; GO:0032094; P:response to food; IEA:Ensembl. DR GO; GO:0009410; P:response to xenobiotic stimulus; IEA:Ensembl. DR GO; GO:0098719; P:sodium ion import across plasma membrane; IEA:Ensembl. DR GO; GO:0097274; P:urea homeostasis; IEA:Ensembl. DR InterPro; IPR001873; ENaC. DR InterPro; IPR004724; ENaC_chordates. DR InterPro; IPR020903; ENaC_CS. DR PANTHER; PTHR11690; PTHR11690; 1. DR Pfam; PF00858; ASC; 1. DR PRINTS; PR01078; AMINACHANNEL. DR TIGRFAMs; TIGR00859; ENaC; 1. DR PROSITE; PS01206; ASC; 1. PE 2: Evidence at transcript level; KW Ion channel {ECO:0000313|EMBL:BAG36009.1}; KW Ion transport {ECO:0000256|ARBA:ARBA00022461}; KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|SAM:Phobius}; KW Sodium {ECO:0000256|ARBA:ARBA00023053}; KW Sodium channel {ECO:0000256|ARBA:ARBA00022461}; KW Sodium transport {ECO:0000256|ARBA:ARBA00023201}; KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|ARBA:ARBA00022989, KW ECO:0000256|SAM:Phobius}; Transport {ECO:0000256|ARBA:ARBA00022448}. FT TRANSMEM 50..70 FT /note="Helical" FT /evidence="ECO:0000256|SAM:Phobius" FT REGION 590..640 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 591..605 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 640 AA; 72659 MW; 5249867F0A960E0C CRC64; MHVKKYLLKG LHRLQKGPGY TYKELLVWYC DNTNTHGPKR IICEGPKKKA MWFLLTLLFA ALVCWQWGIF IRTYLSWEVS VSLSVGFKTM DFPAVTICNA SPFKYSKIKH LLKDLDELME AVLERILAPE LSHANATRNL NFSIWNHTPL VLIDERNPHH PMVLDLFGDN HNGLTSSSAS EKICNAHGCK MAMRLCSLNR TQCTFRNFTS ATQALTEWYI LQATNIFAQV PQQELVEMSY PGEQMILACL FGAEPCNYRN FTSIFYPHYG NCYIFNWGMT EKALPSANPG TEFGLKLILD IGQEDYVPFL ASTAGVRLML HEQRSYPFIR DEGIYAMSGT ETSIGVLVDK LQRMGEPYSP CTVNGSEVPV QNFYSDYNTT YSIQACLRSC FQDHMIRNCN CGHYLYPLPR GEKYCNNRDF PDWAHCYSDL QMSVAQRETC IGMCKESCND TQYKMTISMA DWPSEASEDW IFHVLSQERD QSTNITLSRK GIVKLNIYFQ EFNYRTIEES AANNIVWLLS NLGGQFGFWM GGSVLCLIEF GEIIIDFVWI TIIKLVALAK SLRQRRAQAS YAGPPPTVAE LVEAHTNFGF QPDTAPRSPN TGPYPSEQAL PIPGTPPPNY DSLRLQPLDV IESDSEGDAI //