KCNRG_HUMAN
ID KCNRG_HUMAN Reviewed; 272 AA.
AC Q8N5I3; A2A2X9; Q0P6D0; Q8IU75; Q8N3Q9;
DT 30-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Potassium channel regulatory protein;
DE Short=Potassium channel regulator;
DE AltName: Full=Protein CLLD4;
GN Name=KCNRG; Synonyms=CLLD4;
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 [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
RP FUNCTION.
RX PubMed=12650944; DOI=10.1016/s0014-5793(03)00211-4;
RA Ivanov D.V., Tyazhelova T.V., Lemonnier L., Kononenko N., Pestova A.A.,
RA Nikitin E.A., Prevarskaya N., Skryma R., Panchin Y.V., Yankovsky N.K.,
RA Baranova A.V.;
RT "A new human gene KCNRG encoding potassium channel regulating protein is a
RT cancer suppressor gene candidate located in 13q14.3.";
RL FEBS Lett. 539:156-160(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung;
RA Skoldberg F., Alimohammadi M., Hedstrand H., Kampe O.;
RT "Cloning of spliced CLLD4 gene transcripts.";
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung;
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 [6]
RP FUNCTION, SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=19968958; DOI=10.1016/j.bbrc.2009.11.143;
RA Usman H., Mathew M.K.;
RT "Potassium channel regulator KCNRG regulates surface expression of Shaker-
RT type potassium channels.";
RL Biochem. Biophys. Res. Commun. 391:1301-1305(2010).
CC -!- FUNCTION: Inhibits potassium fluxes in cells. May regulate Kv1 family
CC channel proteins by retaining a fraction of channels in endomembranes.
CC {ECO:0000269|PubMed:12650944, ECO:0000269|PubMed:19968958}.
CC -!- SUBUNIT: Can form homooligomers. Interacts with KCNA1 (via cytoplasmic
CC N-terminal domain) and KCNA4. {ECO:0000269|PubMed:19968958}.
CC -!- INTERACTION:
CC Q8N5I3; Q8N5I3: KCNRG; NbExp=7; IntAct=EBI-745755, EBI-745755;
CC Q8N5I3; A6NLU0: RFPL4A; NbExp=3; IntAct=EBI-745755, EBI-21545735;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000269|PubMed:19968958}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=B;
CC IsoId=Q8N5I3-1; Sequence=Displayed;
CC Name=2; Synonyms=A;
CC IsoId=Q8N5I3-2; Sequence=VSP_019018, VSP_019021;
CC -!- TISSUE SPECIFICITY: Ubiquitous in normal tissues and expressed in some
CC tumor tissues. {ECO:0000269|PubMed:12650944}.
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DR EMBL; AY129653; AAN06090.1; -; mRNA.
DR EMBL; AY129654; AAN06091.1; -; mRNA.
DR EMBL; AY169387; AAO11777.1; -; mRNA.
DR EMBL; AY169388; AAO11778.1; -; mRNA.
DR EMBL; AY190921; AAO27464.1; -; mRNA.
DR EMBL; AY190922; AAO27465.1; -; mRNA.
DR EMBL; AL137060; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08849.1; -; Genomic_DNA.
DR EMBL; CH471075; EAX08850.1; -; Genomic_DNA.
DR EMBL; BC020887; AAH20887.1; -; mRNA.
DR EMBL; BC032343; AAH32343.1; -; mRNA.
DR CCDS; CCDS41889.1; -. [Q8N5I3-2]
DR CCDS; CCDS9424.1; -. [Q8N5I3-1]
DR RefSeq; NP_775876.1; NM_173605.1. [Q8N5I3-1]
DR RefSeq; NP_955751.1; NM_199464.2. [Q8N5I3-2]
DR AlphaFoldDB; Q8N5I3; -.
DR BioGRID; 129592; 11.
DR IntAct; Q8N5I3; 10.
DR MINT; Q8N5I3; -.
DR STRING; 9606.ENSP00000324191; -.
DR iPTMnet; Q8N5I3; -.
DR PhosphoSitePlus; Q8N5I3; -.
DR BioMuta; KCNRG; -.
DR DMDM; 74729005; -.
DR jPOST; Q8N5I3; -.
DR MassIVE; Q8N5I3; -.
DR PaxDb; Q8N5I3; -.
DR PeptideAtlas; Q8N5I3; -.
DR PRIDE; Q8N5I3; -.
DR ProteomicsDB; 72060; -. [Q8N5I3-1]
DR ProteomicsDB; 72061; -. [Q8N5I3-2]
DR Antibodypedia; 637; 141 antibodies from 22 providers.
DR DNASU; 10206; -.
DR Ensembl; ENST00000312942.2; ENSP00000324191.1; ENSG00000198553.9. [Q8N5I3-1]
DR Ensembl; ENST00000360473.8; ENSP00000353661.4; ENSG00000198553.9. [Q8N5I3-2]
DR GeneID; 283518; -.
DR KEGG; hsa:283518; -.
DR MANE-Select; ENST00000312942.2; ENSP00000324191.1; NM_173605.2; NP_775876.1.
DR UCSC; uc001vdt.4; human. [Q8N5I3-1]
DR CTD; 283518; -.
DR DisGeNET; 283518; -.
DR GeneCards; KCNRG; -.
DR HGNC; HGNC:18893; KCNRG.
DR HPA; ENSG00000198553; Tissue enriched (fallopian).
DR MIM; 607947; gene.
DR neXtProt; NX_Q8N5I3; -.
DR OpenTargets; ENSG00000198553; -.
DR PharmGKB; PA134924183; -.
DR VEuPathDB; HostDB:ENSG00000198553; -.
DR eggNOG; KOG2723; Eukaryota.
DR GeneTree; ENSGT00940000161898; -.
DR HOGENOM; CLU_087954_0_0_1; -.
DR InParanoid; Q8N5I3; -.
DR OMA; FRIFGSC; -.
DR OrthoDB; 1078520at2759; -.
DR PhylomeDB; Q8N5I3; -.
DR TreeFam; TF315332; -.
DR PathwayCommons; Q8N5I3; -.
DR SignaLink; Q8N5I3; -.
DR BioGRID-ORCS; 283518; 25 hits in 1071 CRISPR screens.
DR ChiTaRS; KCNRG; human.
DR GeneWiki; KCNRG; -.
DR GenomeRNAi; 283518; -.
DR Pharos; Q8N5I3; Tbio.
DR PRO; PR:Q8N5I3; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8N5I3; protein.
DR Bgee; ENSG00000198553; Expressed in right uterine tube and 104 other tissues.
DR Genevisible; Q8N5I3; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:1902260; P:negative regulation of delayed rectifier potassium channel activity; IDA:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; IEA:InterPro.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR InterPro; IPR003131; T1-type_BTB.
DR Pfam; PF02214; BTB_2; 1.
DR SMART; SM00225; BTB; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; Reference proteome.
FT CHAIN 1..272
FT /note="Potassium channel regulatory protein"
FT /id="PRO_0000238945"
FT DOMAIN 5..106
FT /note="BTB"
FT VAR_SEQ 194..229
FT /note="YVSIKPDNRKLANGTNVLGLLIDTLLKEGFHLVSTR -> LVCNGVISAHHN
FT LRLWGSSDSPASASRVAGITGMFL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12650944,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_019018"
FT VAR_SEQ 230..272
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12650944,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_019021"
SQ SEQUENCE 272 AA; 31048 MW; 5018F55980F0BBA5 CRC64;
MSSQELVTLN VGGKIFTTRF STIKQFPASR LARMLDGRDQ EFKMVGGQIF VDRDGDLFSF
ILDFLRTHQL LLPTEFSDYL RLQREALFYE LRSLVDLLNP YLLQPRPALV EVHFLSRNTQ
AFFRVFGSCS KTIEMLTGRI TVFTEQPSAP TWNGNFFPPQ MTLLPLPPQR PSYHDLVFQC
GSDSTTDNQT GVRYVSIKPD NRKLANGTNV LGLLIDTLLK EGFHLVSTRT VSSEDKTECY
SFERIKSPEV LITNETPKPE TIIIPEQSQI KK
