S7A6O_HUMAN
ID S7A6O_HUMAN Reviewed; 309 AA.
AC Q96CW6; Q8TCZ3; Q9H8R8;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Probable RNA polymerase II nuclear localization protein SLC7A6OS;
DE AltName: Full=ADAMS proteinase-related protein;
DE AltName: Full=Solute carrier family 7 member 6 opposite strand transcript;
GN Name=SLC7A6OS;
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].
RX PubMed=15640104;
RA Lin J.T., Li Y.C., Zhang H.Y., Xu C.Q.;
RT "Construction of Chang liver cDNA library and immunoscreening of ADAMS
RT related genes.";
RL Yi Chuan 26:793-796(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASP-45.
RC TISSUE=Ovary;
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=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASP-45.
RC TISSUE=Adrenal cortex;
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 [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-302 AND SER-308, 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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-302 AND SER-308, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [10]
RP TRANSFECTION IN YEAST.
RX PubMed=21504834; DOI=10.1016/j.molcel.2011.02.033;
RA Czeko E., Seizl M., Augsberger C., Mielke T., Cramer P.;
RT "Iwr1 directs RNA polymerase II nuclear import.";
RL Mol. Cell 42:261-266(2011).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-308, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [13]
RP INVOLVEMENT IN EPM12, VARIANT EPM12 ARG-64, AND CHARACTERIZATION OF VARIANT
RP EPM12 ARG-64.
RX PubMed=33085104; DOI=10.1002/ana.25941;
RA Mazzola L., Oliver K.L., Labalme A., Baykan B., Muona M., Joensuu T.H.,
RA Courage C., Chatron N., Borsani G., Alix E., Ramond F., Touraine R.,
RA Bahlo M., Bebek N., Berkovic S.F., Lehesjoki A.E., Lesca G.;
RT "Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of
RT SLC7A6OS.";
RL Ann. Neurol. 89:402-407(2021).
CC -!- FUNCTION: Directs RNA polymerase II nuclear import. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
CC -!- DISEASE: Epilepsy, progressive myoclonic 12 (EPM12) [MIM:619191]: A
CC form of progressive myoclonic epilepsy, a clinically and genetically
CC heterogeneous group of disorders defined by the combination of action
CC and reflex myoclonus, other types of epileptic seizures, and
CC progressive neurodegeneration and neurocognitive impairment. EPM12 is
CC an autosomal recessive form characterized by onset of tonic-clonic
CC seizures and/or myoclonus in the second decade of life. Affected
CC individuals develop cerebellar ataxia associated with progressive
CC cerebral and cerebellar atrophy on brain imaging. Most patients lose
CC ambulation and become wheelchair-bound. Additional more variable
CC features include mild cognitive dysfunction or psychiatric
CC manifestations, such as depression or anxiety.
CC {ECO:0000269|PubMed:33085104}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: When transfected to S.cerevisiae cells, able to
CC partially restore polymerase II mislocalization and cellular shape in
CC IWR1 mutant cells. {ECO:0000305|PubMed:21504834}.
CC -!- SIMILARITY: Belongs to the IWR1/SLC7A6OS family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAL79958.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY078070; AAL79958.1; ALT_FRAME; mRNA.
DR EMBL; AK023353; BAB14538.1; -; mRNA.
DR EMBL; AC020978; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC013778; AAH13778.1; -; mRNA.
DR CCDS; CCDS10865.1; -.
DR RefSeq; NP_115554.2; NM_032178.2.
DR AlphaFoldDB; Q96CW6; -.
DR BioGRID; 123908; 26.
DR IntAct; Q96CW6; 3.
DR STRING; 9606.ENSP00000263997; -.
DR iPTMnet; Q96CW6; -.
DR PhosphoSitePlus; Q96CW6; -.
DR SwissPalm; Q96CW6; -.
DR BioMuta; SLC7A6OS; -.
DR DMDM; 296452893; -.
DR EPD; Q96CW6; -.
DR jPOST; Q96CW6; -.
DR MassIVE; Q96CW6; -.
DR MaxQB; Q96CW6; -.
DR PaxDb; Q96CW6; -.
DR PeptideAtlas; Q96CW6; -.
DR PRIDE; Q96CW6; -.
DR ProteomicsDB; 76234; -.
DR Antibodypedia; 50485; 17 antibodies from 10 providers.
DR DNASU; 84138; -.
DR Ensembl; ENST00000263997.11; ENSP00000263997.5; ENSG00000103061.13.
DR GeneID; 84138; -.
DR KEGG; hsa:84138; -.
DR MANE-Select; ENST00000263997.11; ENSP00000263997.5; NM_032178.3; NP_115554.2.
DR UCSC; uc002evw.3; human.
DR CTD; 84138; -.
DR DisGeNET; 84138; -.
DR GeneCards; SLC7A6OS; -.
DR HGNC; HGNC:25807; SLC7A6OS.
DR HPA; ENSG00000103061; Low tissue specificity.
DR MalaCards; SLC7A6OS; -.
DR MIM; 619191; phenotype.
DR MIM; 619192; gene.
DR neXtProt; NX_Q96CW6; -.
DR OpenTargets; ENSG00000103061; -.
DR PharmGKB; PA142670912; -.
DR VEuPathDB; HostDB:ENSG00000103061; -.
DR eggNOG; KOG4852; Eukaryota.
DR GeneTree; ENSGT00390000015672; -.
DR HOGENOM; CLU_059743_0_0_1; -.
DR InParanoid; Q96CW6; -.
DR OMA; YPDEDEF; -.
DR OrthoDB; 1160014at2759; -.
DR PhylomeDB; Q96CW6; -.
DR TreeFam; TF324404; -.
DR PathwayCommons; Q96CW6; -.
DR SignaLink; Q96CW6; -.
DR BioGRID-ORCS; 84138; 663 hits in 1098 CRISPR screens.
DR ChiTaRS; SLC7A6OS; human.
DR GenomeRNAi; 84138; -.
DR Pharos; Q96CW6; Tdark.
DR PRO; PR:Q96CW6; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q96CW6; protein.
DR Bgee; ENSG00000103061; Expressed in pancreatic ductal cell and 154 other tissues.
DR ExpressionAtlas; Q96CW6; baseline and differential.
DR Genevisible; Q96CW6; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IEA:Ensembl.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR InterPro; IPR040218; SLC7A6OS.
DR InterPro; IPR013883; TF_Iwr1_dom.
DR PANTHER; PTHR31196; PTHR31196; 1.
DR Pfam; PF08574; Iwr1; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Disease variant; Epilepsy; Neurodegeneration; Nucleus;
KW Phosphoprotein; Protein transport; Reference proteome; Transport.
FT CHAIN 1..309
FT /note="Probable RNA polymerase II nuclear localization
FT protein SLC7A6OS"
FT /id="PRO_0000289169"
FT REGION 101..134
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 233..287
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 108..131
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 264..284
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 302
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332"
FT MOD_RES 308
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT VARIANT 24
FT /note="V -> M (in dbSNP:rs35800405)"
FT /id="VAR_032591"
FT VARIANT 45
FT /note="G -> D (in dbSNP:rs3803650)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_032592"
FT VARIANT 64
FT /note="Q -> R (in EPM12; due to a nucleotide substitution
FT that can result in aberrant splicing; patient cells contain
FT both normally spliced transcripts and transcripts that
FT retained intron 1; marked reduction of protein expression
FT in patient cells; dbSNP:rs190706099)"
FT /evidence="ECO:0000269|PubMed:33085104"
FT /id="VAR_085257"
FT VARIANT 116
FT /note="S -> A (in dbSNP:rs8063446)"
FT /id="VAR_032593"
FT VARIANT 220
FT /note="Y -> C (in dbSNP:rs11548855)"
FT /id="VAR_032594"
FT CONFLICT 78
FT /note="P -> L (in Ref. 2; BAB14538)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 309 AA; 35028 MW; F1C92B631F33E034 CRC64;
MEAARTAVLR VKRKRSAEPA EALVLACKRL RSDAVESAAQ KTSEGLERAA ENNVFHLVAT
VCSQEEPVQP LLREVLRPSR DSQQRVRRNL RASAREVRQE GRYRVLSSRR SLGTTSSGQE
SEYTPGNPEA AGNSGFQLLD LVHEEGEPEA ASAGSCKTSD PDVILCNSVE LIRERLTVSE
DGPGVRRQEE QKHDDYVYDI YYLETATPGW IENILSVQPY SQEWELVNDD QEPEDIYDDE
DDENSENNWR NEYPEEESSD GDEDSRGSAD YNSLSEEERG SSRQRMWSKY PLDVQKEFGY
DSPHDLDSD
