RUND1_HUMAN
ID RUND1_HUMAN Reviewed; 613 AA.
AC Q96C34; Q6Y2K8; Q8IXT9; Q8N3W1;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 122.
DE RecName: Full=RUN domain-containing protein 1;
GN Name=RUNDC1; ORFNames=LP5161;
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=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP ILE-4; ARG-160 AND MET-397.
RC TISSUE=Lymph, 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-613 (ISOFORM 1), AND VARIANT
RP ARG-160.
RC TISSUE=Amygdala;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-613 (ISOFORM 1), AND VARIANT
RP ARG-160.
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [5]
RP FUNCTION.
RX PubMed=16929179; DOI=10.4161/cc.5.16.3140;
RA Llanos S., Efeyan A., Monsech J., Dominguez O., Serrano M.;
RT "A high-throughput loss-of-function screening identifies novel p53
RT regulators.";
RL Cell Cycle 5:1880-1885(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-71 AND SER-75, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-54, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- FUNCTION: May play a role as p53/TP53 inhibitor and thus may have
CC oncogenic activity. {ECO:0000269|PubMed:16929179}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96C34-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96C34-2; Sequence=VSP_024551;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH14873.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAO86728.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC055866; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014873; AAH14873.1; ALT_INIT; mRNA.
DR EMBL; BC039247; AAH39247.1; -; mRNA.
DR EMBL; AL831813; CAD38528.1; -; mRNA.
DR EMBL; AY189284; AAO86728.1; ALT_INIT; mRNA.
DR CCDS; CCDS11448.1; -. [Q96C34-1]
DR AlphaFoldDB; Q96C34; -.
DR SMR; Q96C34; -.
DR BioGRID; 127025; 18.
DR IntAct; Q96C34; 6.
DR STRING; 9606.ENSP00000354622; -.
DR iPTMnet; Q96C34; -.
DR PhosphoSitePlus; Q96C34; -.
DR BioMuta; RUNDC1; -.
DR DMDM; 296452974; -.
DR EPD; Q96C34; -.
DR jPOST; Q96C34; -.
DR MassIVE; Q96C34; -.
DR MaxQB; Q96C34; -.
DR PaxDb; Q96C34; -.
DR PeptideAtlas; Q96C34; -.
DR PRIDE; Q96C34; -.
DR ProteomicsDB; 76156; -. [Q96C34-1]
DR ProteomicsDB; 76157; -. [Q96C34-2]
DR Antibodypedia; 17190; 63 antibodies from 18 providers.
DR Ensembl; ENST00000361677.6; ENSP00000354622.1; ENSG00000198863.8. [Q96C34-1]
DR MANE-Select; ENST00000361677.6; ENSP00000354622.1; NM_173079.5; NP_775102.3.
DR UCSC; uc002ici.1; human. [Q96C34-1]
DR GeneCards; RUNDC1; -.
DR HGNC; HGNC:25418; RUNDC1.
DR HPA; ENSG00000198863; Low tissue specificity.
DR MIM; 619250; gene.
DR neXtProt; NX_Q96C34; -.
DR OpenTargets; ENSG00000198863; -.
DR PharmGKB; PA134956633; -.
DR VEuPathDB; HostDB:ENSG00000198863; -.
DR eggNOG; KOG3759; Eukaryota.
DR GeneTree; ENSGT00390000007311; -.
DR HOGENOM; CLU_020366_0_0_1; -.
DR InParanoid; Q96C34; -.
DR OMA; WSYVART; -.
DR OrthoDB; 556116at2759; -.
DR PhylomeDB; Q96C34; -.
DR TreeFam; TF105949; -.
DR PathwayCommons; Q96C34; -.
DR SignaLink; Q96C34; -.
DR BioGRID-ORCS; 146923; 4 hits in 1069 CRISPR screens.
DR ChiTaRS; RUNDC1; human.
DR Pharos; Q96C34; Tdark.
DR PRO; PR:Q96C34; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96C34; protein.
DR Bgee; ENSG00000198863; Expressed in Brodmann (1909) area 23 and 176 other tissues.
DR ExpressionAtlas; Q96C34; baseline and differential.
DR Genevisible; Q96C34; HS.
DR GO; GO:0005096; F:GTPase activator activity; IBA:GO_Central.
DR GO; GO:0090630; P:activation of GTPase activity; IBA:GO_Central.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
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 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..613
FT /note="RUN domain-containing protein 1"
FT /id="PRO_0000284511"
FT DOMAIN 421..602
FT /note="RUN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00178"
FT REGION 15..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 57..79
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 140..177
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 305..330
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 160..235
FT /evidence="ECO:0000255"
FT COMPBIAS 151..177
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 309..324
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 54
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 71
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 75
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 497
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q0VDN7"
FT VAR_SEQ 286
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024551"
FT VARIANT 4
FT /note="V -> I (in dbSNP:rs17853899)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031760"
FT VARIANT 160
FT /note="W -> R (in dbSNP:rs1708875)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:15498874, ECO:0000269|PubMed:17974005"
FT /id="VAR_031761"
FT VARIANT 397
FT /note="L -> M (in dbSNP:rs17857183)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_031762"
FT VARIANT 566
FT /note="E -> K (in dbSNP:rs3744241)"
FT /id="VAR_051328"
FT CONFLICT 166
FT /note="Q -> QGL (in Ref. 4; AAO86728)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 613 AA; 67643 MW; 27DA61C05ADFE3EE CRC64;
MAAVEAAAEP VTVVAAVGPK AKDEEEEEEE PLPPCEAVRW APVGAVAEAR PGATAFLEEA
TAEEPGAAPG SPPDSPGRTL RRLRAERRRL DSALLALSSH FAQVQFRLRQ VVRGAPAEQQ
RLLRELEDFA FRGCPHVLGY EGPGDPASDE GDGLPGDRPW LRGEDQSEQE KQERLETQRE
KQKELILQLK TQLDDLETFA YQEGSYDSLP QSVVLERQRV IIDELIKKLD MNLNEDISSL
STEELRQRVD AAVAQIVNPA RVKEQLVEQL KTQIRDLEMF INFIQDEVGS PLQTGGGHCE
CKAGGKTGNG CSRTGSSRTP PGNSKTKAED VKKVRETGLH LMRRALAVLQ IFAVSQFGCA
TGQIPPTLWQ RVQADRDYSP LLKRLEVSVD RVKQLALRQQ PHDHVITSAN LQDLSLGGKD
ELTMAVRKEL TVAVRDLLAH GLYASSPGMS LVMAPIACLL PAFSSAPEAM HPWELFVKYY
HAKNGRAYVE SPARKLSQSF ALPVTGGTVV TPKQSLLTAI HMVLTEHDPF KRSADSELKA
LVCMALNEQR LVSWVNLICK SGSLIEPHYQ PWSYMAHTGF ESALNLLSRL SSLKFSLPVD
LAVRQLKNIK DAF
