RUN3B_HUMAN
ID RUN3B_HUMAN Reviewed; 473 AA.
AC Q96NL0; B4DFD0; E9PBR4; Q8IWW5; Q8NB55; Q8TBG7;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=RUN domain-containing protein 3B;
DE AltName: Full=Rap2-binding protein 9;
DE AltName: Full=Rap2-interacting protein 9;
DE Short=RPIP-9;
GN Name=RUNDC3B; Synonyms=RPIB9, RPIP9;
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 2), AND TISSUE SPECIFICITY.
RX PubMed=12645870; DOI=10.1023/a:1020918411532;
RA Wang S., Zhang Z., Ying K., Chen J.-Z., Meng X.-F., Yang Q.-S., Xie Y.,
RA Mao Y.-M.;
RT "Cloning, expression, and genomic structure of a novel human Rap2
RT interacting gene (RPIP9).";
RL Biochem. Genet. 41:13-25(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 5).
RC TISSUE=Brain, and Cerebellum;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [5]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANTS MET-47;
RP GLY-206 AND PRO-440.
RC TISSUE=Brain;
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 [7]
RP TISSUE SPECIFICITY.
RX PubMed=15986426; DOI=10.1002/ijc.21252;
RA Raguz S., De Bella M.T., Slade M.J., Higgins C.F., Coombes R.C., Yague E.;
RT "Expression of RPIP9 (Rap2 interacting protein 9) is activated in breast
RT carcinoma and correlates with a poor prognosis.";
RL Int. J. Cancer 117:934-941(2005).
CC -!- SUBUNIT: Interacts with RAP2A. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q96NL0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96NL0-2; Sequence=VSP_033804, VSP_033806, VSP_033807;
CC Name=3;
CC IsoId=Q96NL0-3; Sequence=VSP_033803, VSP_033807;
CC Name=4;
CC IsoId=Q96NL0-4; Sequence=VSP_033805, VSP_033807;
CC Name=5;
CC IsoId=Q96NL0-5; Sequence=VSP_033805;
CC -!- TISSUE SPECIFICITY: Isoform 2 is expressed at high levels in brain,
CC thymus, ovary, testis, leukocyte, liver, small intestine and prostate.
CC Isoform 1 is expressed in the brain, testis and adrenal gland. It is
CC activated in tumorigenic breast cancer cell lines and in the primary
CC tumor of breast cancer patients. Activation also correlates with
CC metastatic lymph node invasion and can be detected in metastatic
CC epithelial cells from the lymph nodes and in the bone marrow of
CC patients. {ECO:0000269|PubMed:12645870, ECO:0000269|PubMed:15986426}.
CC -!- SIMILARITY: Belongs to the RUNDC3 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH22520.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY033596; AAK52313.1; -; mRNA.
DR EMBL; AK055233; BAB70882.1; -; mRNA.
DR EMBL; AK091536; BAC03686.1; -; mRNA.
DR EMBL; AK294039; BAG57391.1; -; mRNA.
DR EMBL; AC002457; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC003083; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236949; EAL24172.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76937.1; -; Genomic_DNA.
DR EMBL; BC022520; AAH22520.1; ALT_FRAME; mRNA.
DR CCDS; CCDS47635.1; -. [Q96NL0-5]
DR CCDS; CCDS47636.1; -. [Q96NL0-4]
DR CCDS; CCDS5609.1; -. [Q96NL0-1]
DR RefSeq; NP_001127877.1; NM_001134405.1. [Q96NL0-5]
DR RefSeq; NP_001127878.1; NM_001134406.1. [Q96NL0-4]
DR RefSeq; NP_612147.1; NM_138290.2. [Q96NL0-1]
DR AlphaFoldDB; Q96NL0; -.
DR SMR; Q96NL0; -.
DR BioGRID; 127550; 6.
DR IntAct; Q96NL0; 5.
DR MINT; Q96NL0; -.
DR STRING; 9606.ENSP00000337732; -.
DR iPTMnet; Q96NL0; -.
DR PhosphoSitePlus; Q96NL0; -.
DR BioMuta; RUNDC3B; -.
DR DMDM; 74732586; -.
DR MassIVE; Q96NL0; -.
DR MaxQB; Q96NL0; -.
DR PaxDb; Q96NL0; -.
DR PeptideAtlas; Q96NL0; -.
DR PRIDE; Q96NL0; -.
DR ProteomicsDB; 19278; -.
DR ProteomicsDB; 77525; -. [Q96NL0-1]
DR ProteomicsDB; 77526; -. [Q96NL0-2]
DR ProteomicsDB; 77527; -. [Q96NL0-3]
DR ProteomicsDB; 77528; -. [Q96NL0-4]
DR Antibodypedia; 45244; 57 antibodies from 16 providers.
DR DNASU; 154661; -.
DR Ensembl; ENST00000338056.7; ENSP00000337732.3; ENSG00000105784.16. [Q96NL0-1]
DR Ensembl; ENST00000394654.4; ENSP00000378149.3; ENSG00000105784.16. [Q96NL0-5]
DR Ensembl; ENST00000493037.5; ENSP00000420394.1; ENSG00000105784.16. [Q96NL0-4]
DR GeneID; 154661; -.
DR KEGG; hsa:154661; -.
DR MANE-Select; ENST00000394654.4; ENSP00000378149.3; NM_001134405.2; NP_001127877.1. [Q96NL0-5]
DR UCSC; uc003ujb.4; human. [Q96NL0-1]
DR CTD; 154661; -.
DR DisGeNET; 154661; -.
DR GeneCards; RUNDC3B; -.
DR HGNC; HGNC:30286; RUNDC3B.
DR HPA; ENSG00000105784; Tissue enhanced (adrenal gland, brain, liver).
DR MIM; 617295; gene.
DR neXtProt; NX_Q96NL0; -.
DR OpenTargets; ENSG00000105784; -.
DR PharmGKB; PA162402278; -.
DR VEuPathDB; HostDB:ENSG00000105784; -.
DR eggNOG; KOG4381; Eukaryota.
DR GeneTree; ENSGT00940000159175; -.
DR HOGENOM; CLU_045987_0_0_1; -.
DR InParanoid; Q96NL0; -.
DR OMA; KSTGQWE; -.
DR OrthoDB; 714315at2759; -.
DR PhylomeDB; Q96NL0; -.
DR TreeFam; TF323904; -.
DR PathwayCommons; Q96NL0; -.
DR SignaLink; Q96NL0; -.
DR BioGRID-ORCS; 154661; 8 hits in 1064 CRISPR screens.
DR ChiTaRS; RUNDC3B; human.
DR GenomeRNAi; 154661; -.
DR Pharos; Q96NL0; Tbio.
DR PRO; PR:Q96NL0; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q96NL0; protein.
DR Bgee; ENSG00000105784; Expressed in endothelial cell and 160 other tissues.
DR Genevisible; Q96NL0; HS.
DR Gene3D; 1.20.58.900; -; 1.
DR InterPro; IPR004012; Run_dom.
DR InterPro; IPR037213; Run_dom_sf.
DR Pfam; PF02759; RUN; 1.
DR SMART; SM00593; RUN; 1.
DR SUPFAM; SSF140741; SSF140741; 1.
DR PROSITE; PS50826; RUN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Methylation; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..473
FT /note="RUN domain-containing protein 3B"
FT /id="PRO_0000336049"
FT DOMAIN 57..206
FT /note="RUN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00178"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 399..428
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 317..342
FT /evidence="ECO:0000255"
FT COMPBIAS 399..418
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 13
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q6PDC0"
FT MOD_RES 232
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PDC0"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6PDC0"
FT VAR_SEQ 1..259
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033803"
FT VAR_SEQ 1..95
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12645870"
FT /id="VSP_033804"
FT VAR_SEQ 80..96
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_033805"
FT VAR_SEQ 96
FT /note="Q -> M (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12645870"
FT /id="VSP_033806"
FT VAR_SEQ 337..385
FT /note="Missing (in isoform 2, isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:12645870,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_033807"
FT VARIANT 47
FT /note="L -> M (in dbSNP:rs17852065)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043473"
FT VARIANT 206
FT /note="E -> G (in dbSNP:rs17852063)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043474"
FT VARIANT 440
FT /note="L -> P (in dbSNP:rs17856673)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_043475"
FT CONFLICT 102
FT /note="F -> V (in Ref. 1; AAK52313)"
FT /evidence="ECO:0000305"
FT CONFLICT 185
FT /note="N -> S (in Ref. 1; AAK52313)"
FT /evidence="ECO:0000305"
FT CONFLICT 243
FT /note="S -> G (in Ref. 1; AAK52313)"
FT /evidence="ECO:0000305"
FT CONFLICT 266
FT /note="F -> L (in Ref. 2; BAG57391)"
FT /evidence="ECO:0000305"
FT CONFLICT 412
FT /note="E -> G (in Ref. 1; AAK52313)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 473 AA; 52813 MW; 1AC96C90379EEFB8 CRC64;
MASRSLGGLS GIRGGGGGGG KKSLSARNAA VERRNLITVC RFSVKTLIDR SCFETIDDSS
PEFNNFAAIL EQILSHRLKE ISQSCRWLAH LQIPLQGQVT WFGYESPRSF WDYIRVACRK
VSQNCICSIE NMENVSSSRA KGRAWIRVAL MEKHLSEYIS TALRDFKTTR RFYEDGAIVL
GEEANMLAGM LLGLNAIDFS FCLKGEGLDG SFPAVIDYTP YLKYIQSSDS ISSDEEELRT
LGSSGSESST PENVGPPFLM DENSWFNKCK RVKQKYQLTL EQKGYLEELL RLRENQLSES
VSQNKILLQR IEDSDLAHKL EKEQLEYIIV ELQDQLTVLK NNDLRSRQEL TAHLTNQWPS
PGALDVNAVA LDTLLYRKHN KQWYEKSYQS LDQLSAEVSL SQTSLDPGQS QEGDGKQDTL
NVMSEGKEDT PSLLGLCGSL TSVASYKSLT SLKSNDYLAS PTTEMTSPGL TPS
