RTKN2_HUMAN
ID RTKN2_HUMAN Reviewed; 609 AA.
AC Q8IZC4; Q3ZCR1; Q68DZ6; Q8N8K1; Q8TAV2;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Rhotekin-2;
DE AltName: Full=Pleckstrin homology domain-containing family K member 1;
DE Short=PH domain-containing family K member 1;
GN Name=RTKN2; Synonyms=PLEKHK1;
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] (ISOFORM 1), TISSUE SPECIFICITY, FUNCTION,
RP ALTERNATIVE SPLICING, AND INDUCTION BY PHA.
RX PubMed=15504364; DOI=10.1016/j.bbrc.2004.09.205;
RA Collier F.M., Gregorio-King C.C., Gough T.J., Talbot C.D., Walder K.,
RA Kirkland M.A.;
RT "Identification and characterization of a lymphocytic Rho-GTPase effector:
RT rhotekin-2.";
RL Biochem. Biophys. Res. Commun. 324:1360-1369(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INDUCTION.
RX PubMed=15120425; DOI=10.1016/j.jsbmb.2003.12.007;
RA Gregorio-King C.C., Gough T., Van Der Meer G.J., Hosking J.B., Waugh C.M.,
RA McLeod J.L., Collier F.M., Kirkland M.A.;
RT "Mechanisms of resistance to the cytotoxic effects of oxysterols in human
RT leukemic cells.";
RL J. Steroid Biochem. Mol. Biol. 88:311-320(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(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] (ISOFORM 3), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 341-609 (ISOFORM 1), AND VARIANT ARG-462.
RC TISSUE=Lung, and Testis;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 212-609 (ISOFORM 2), AND VARIANT
RP ARG-462.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 535-609 (ISOFORM 1).
RC TISSUE=Fetal kidney;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: May play an important role in lymphopoiesis.
CC {ECO:0000269|PubMed:15504364}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8IZC4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IZC4-2; Sequence=VSP_029137, VSP_029138, VSP_029139;
CC Name=3;
CC IsoId=Q8IZC4-3; Sequence=VSP_029135, VSP_029136;
CC -!- TISSUE SPECIFICITY: Expressed in lymphocytes, CD4 positive T-cells and
CC bone marrow-derived cells. Also expressed in lung, colon, thymus and
CC brain. {ECO:0000269|PubMed:15504364}.
CC -!- INDUCTION: Up-regulated in cells resistant to 25-hydroxy cholesterol
CC (25-OHC). Down-regulated in lymphocytes activated by treatment with
CC phytohemagglutinin (PHA). {ECO:0000269|PubMed:15120425,
CC ECO:0000269|PubMed:15504364}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04837.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BC048002; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AY150309; AAN71738.1; -; mRNA.
DR EMBL; AC024597; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL607150; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471083; EAW54232.1; -; Genomic_DNA.
DR EMBL; BC025765; AAH25765.1; -; mRNA.
DR EMBL; BC048002; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC141821; AAI41822.1; -; mRNA.
DR EMBL; BC142725; AAI42726.1; -; mRNA.
DR EMBL; AK096671; BAC04837.1; ALT_INIT; mRNA.
DR EMBL; CR749217; CAH18074.1; -; mRNA.
DR CCDS; CCDS7263.1; -. [Q8IZC4-1]
DR CCDS; CCDS73140.1; -. [Q8IZC4-3]
DR RefSeq; NP_001269870.1; NM_001282941.1. [Q8IZC4-3]
DR RefSeq; NP_660350.2; NM_145307.3. [Q8IZC4-1]
DR AlphaFoldDB; Q8IZC4; -.
DR SMR; Q8IZC4; -.
DR BioGRID; 128576; 9.
DR IntAct; Q8IZC4; 7.
DR MINT; Q8IZC4; -.
DR STRING; 9606.ENSP00000362894; -.
DR iPTMnet; Q8IZC4; -.
DR PhosphoSitePlus; Q8IZC4; -.
DR BioMuta; RTKN2; -.
DR DMDM; 74750788; -.
DR EPD; Q8IZC4; -.
DR MassIVE; Q8IZC4; -.
DR MaxQB; Q8IZC4; -.
DR PaxDb; Q8IZC4; -.
DR PeptideAtlas; Q8IZC4; -.
DR PRIDE; Q8IZC4; -.
DR ProteomicsDB; 71313; -. [Q8IZC4-1]
DR ProteomicsDB; 71314; -. [Q8IZC4-2]
DR ProteomicsDB; 71315; -. [Q8IZC4-3]
DR Antibodypedia; 28261; 139 antibodies from 24 providers.
DR DNASU; 219790; -.
DR Ensembl; ENST00000373789.8; ENSP00000362894.3; ENSG00000182010.11. [Q8IZC4-1]
DR Ensembl; ENST00000395260.3; ENSP00000378678.3; ENSG00000182010.11. [Q8IZC4-3]
DR GeneID; 219790; -.
DR KEGG; hsa:219790; -.
DR MANE-Select; ENST00000373789.8; ENSP00000362894.3; NM_145307.4; NP_660350.2.
DR UCSC; uc001jlw.5; human. [Q8IZC4-1]
DR CTD; 219790; -.
DR DisGeNET; 219790; -.
DR GeneCards; RTKN2; -.
DR HGNC; HGNC:19364; RTKN2.
DR HPA; ENSG00000182010; Tissue enriched (lung).
DR MIM; 618450; gene.
DR neXtProt; NX_Q8IZC4; -.
DR OpenTargets; ENSG00000182010; -.
DR PharmGKB; PA162402276; -.
DR VEuPathDB; HostDB:ENSG00000182010; -.
DR eggNOG; ENOG502QRWR; Eukaryota.
DR GeneTree; ENSGT00940000157470; -.
DR HOGENOM; CLU_025066_1_0_1; -.
DR InParanoid; Q8IZC4; -.
DR OMA; NWSTLFD; -.
DR OrthoDB; 497196at2759; -.
DR PhylomeDB; Q8IZC4; -.
DR TreeFam; TF331476; -.
DR PathwayCommons; Q8IZC4; -.
DR SignaLink; Q8IZC4; -.
DR BioGRID-ORCS; 219790; 32 hits in 1070 CRISPR screens.
DR ChiTaRS; RTKN2; human.
DR GenomeRNAi; 219790; -.
DR Pharos; Q8IZC4; Tbio.
DR PRO; PR:Q8IZC4; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8IZC4; protein.
DR Bgee; ENSG00000182010; Expressed in right lung and 112 other tissues.
DR ExpressionAtlas; Q8IZC4; baseline and differential.
DR Genevisible; Q8IZC4; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0030097; P:hemopoiesis; IBA:GO_Central.
DR GO; GO:2001243; P:negative regulation of intrinsic apoptotic signaling pathway; IMP:UniProtKB.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IBA:GO_Central.
DR GO; GO:0051092; P:positive regulation of NF-kappaB transcription factor activity; IMP:UniProtKB.
DR GO; GO:1901224; P:positive regulation of NIK/NF-kappaB signaling; IMP:UniProtKB.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR012966; AHD.
DR InterPro; IPR011072; HR1_rho-bd.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR030469; RTKN2.
DR PANTHER; PTHR21538:SF21; PTHR21538:SF21; 1.
DR Pfam; PF08174; Anillin; 1.
DR Pfam; PF00169; PH; 1.
DR SMART; SM00742; Hr1; 1.
DR SMART; SM00233; PH; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS51860; REM_1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..609
FT /note="Rhotekin-2"
FT /id="PRO_0000309326"
FT DOMAIN 5..81
FT /note="REM-1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01207"
FT DOMAIN 286..393
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 495..520
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 554..609
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 56..91
FT /evidence="ECO:0000255"
FT COMPBIAS 565..581
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 163
FT /note="F -> L (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029135"
FT VAR_SEQ 164..609
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029136"
FT VAR_SEQ 340
FT /note="K -> KSLVLFEDSLEGIQLAISQSFK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029137"
FT VAR_SEQ 486..506
FT /note="VLYPASEPLHDEKGKKRQAPL -> NNSNQLHNLQKLPATSKFLFT (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029138"
FT VAR_SEQ 507..609
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029139"
FT VARIANT 101
FT /note="K -> T (in dbSNP:rs3765004)"
FT /id="VAR_050516"
FT VARIANT 462
FT /note="H -> R (in dbSNP:rs3125734)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_050517"
SQ SEQUENCE 609 AA; 69304 MW; 928E5F197EBBDBE4 CRC64;
MEGPSLRGPA LRLAGLPTQQ DCNIQEKIDL EIRMREGIWK LLSLSTQKDQ VLHAVKNLMV
CNARLMAYTS ELQKLEEQIA NQTGRCDVKF ESKERTACKG KIAISDIRIP LMWKDSDHFS
NKERSRRYAI FCLFKMGANV FDTDVVNVDK TITDICFENV TIFNEAGPDF QIKVEVYSCC
TEESSITNTP KKLAKKLKTS ISKATGKKIS SVLQEEDDEM CLLLSSAVFG VKYNLLAHTT
LTLESAEDSF KTHNLSINGN EESSFWLPLY GNMCCRLVAQ PACMAEDAFA GFLNQQQMVE
GLISWRRLYC VLRGGKLYCF YSPEEIEAKV EPALVVPINK ETRIRAMDKD AKKRIHNFSV
INPVPGQAIT QIFAVDNRED LQKWMEAFWQ HFFDLSQWKH CCEELMKIEI MSPRKPPLFL
TKEATSVYHD MSIDSPMKLE SLTDIIQKKI EETNGQFLIG QHEESLPPPW ATLFDGNHQM
VIQKKVLYPA SEPLHDEKGK KRQAPLPPSD KLPFSLKSQS NTDQLVKDNW GKTSVSQTSS
LDTKLSTLMH HLQKPMAAPR KLLPARRNRL SDGEHTDTKT NFEAKPVPAP RQKSIKDILD
PRSWLQAQV
