ZSWM6_MOUSE
ID ZSWM6_MOUSE Reviewed; 1207 AA.
AC Q80TB7; E9PX41; Q8CAS5;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 29-OCT-2014, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Zinc finger SWIM domain-containing protein 6;
GN Name=Zswim6; Synonyms=Kiaa1577;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=12693553; DOI=10.1093/dnares/10.1.35;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S.,
RA Nakajima D., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: II.
RT The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:35-48(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 465-1207 (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Thymus;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=25105228; DOI=10.1016/j.ajhg.2014.07.008;
RG University of Washington Center for Mendelian Genomics;
RA Smith J.D., Hing A.V., Clarke C.M., Johnson N.M., Perez F.A., Park S.S.,
RA Horst J.A., Mecham B., Maves L., Nickerson D.A., Cunningham M.L.;
RT "Exome Sequencing identifies a recurrent de novo ZSWIM6 mutation associated
RT with acromelic frontonasal dysostosis.";
RL Am. J. Hum. Genet. 95:235-240(2014).
RN [5]
RP FUNCTION, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE, AND TISSUE
RP SPECIFICITY.
RX PubMed=28433741; DOI=10.1016/j.nbd.2017.04.013;
RA Tischfield D.J., Saraswat D.K., Furash A., Fowler S.C., Fuccillo M.V.,
RA Anderson S.A.;
RT "Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and
RT motor regulation.";
RL Neurobiol. Dis. 103:174-183(2017).
CC -!- FUNCTION: involved in nervous system development, important for
CC striatal morphology and motor regulation.
CC {ECO:0000269|PubMed:28433741}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q80TB7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q80TB7-2; Sequence=VSP_009238, VSP_009239, VSP_009240;
CC -!- TISSUE SPECIFICITY: Mouse embryos and newborn mice shown expression in
CC the central nervous system (at protein level).
CC {ECO:0000269|PubMed:25105228, ECO:0000269|PubMed:28433741}.
CC -!- DEVELOPMENTAL STAGE: Widely expressed during embryonic brain
CC development but becomes restricted to the striatum postnatally
CC (PubMed:28433741). Detected in the subventricular zone of the
CC ganglionic eminences at 12.5 dpc. Higher expression levels appear in
CC the lateral ganglionic eminence than in the medial ganglionic eminence.
CC By 14.5 dpc expression remains enriched in the subventricular zone and
CC marginal zones of the ganglionic eminences and is detected at low
CC levels in the cortical plate, developing amygdala, and thalamus. By
CC 16.5 dpc, expression increases in the cortical plate, developing
CC amygdala, and portions of the thalamus and hypothalamus. In the
CC telencephalon, the postnatal expression become more restricted to the
CC striatum (PubMed:28433741). {ECO:0000269|PubMed:28433741}.
CC -!- DISRUPTION PHENOTYPE: Knockout animals born in Mendelian ratios, but
CC show increased neonatal mortality such that around 40% survive to
CC weaning. Mutants show a reduction in striatal volume and changes in
CC medium spiny neuron morphology. They have alterations in motor control,
CC including hyperactivity, impaired rotarod performance, repetitive
CC movements, and behavioral hyperresponsiveness to amphetamine.
CC {ECO:0000269|PubMed:28433741}.
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DR EMBL; AK122528; BAC65810.1; -; mRNA.
DR EMBL; AK037945; BAC29905.1; -; mRNA.
DR EMBL; AC154503; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC165250; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CT572986; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_663431.2; NM_145456.2.
DR AlphaFoldDB; Q80TB7; -.
DR STRING; 10090.ENSMUSP00000100724; -.
DR PhosphoSitePlus; Q80TB7; -.
DR MaxQB; Q80TB7; -.
DR PaxDb; Q80TB7; -.
DR PRIDE; Q80TB7; -.
DR ProteomicsDB; 275109; -. [Q80TB7-1]
DR ProteomicsDB; 275110; -. [Q80TB7-2]
DR GeneID; 67263; -.
DR KEGG; mmu:67263; -.
DR UCSC; uc007rup.2; mouse. [Q80TB7-1]
DR CTD; 57688; -.
DR MGI; MGI:1914513; Zswim6.
DR VEuPathDB; HostDB:ENSMUSG00000032846; -.
DR eggNOG; KOG3615; Eukaryota.
DR HOGENOM; CLU_005301_1_0_1; -.
DR InParanoid; Q80TB7; -.
DR OrthoDB; 58074at2759; -.
DR PhylomeDB; Q80TB7; -.
DR TreeFam; TF324881; -.
DR BioGRID-ORCS; 67263; 3 hits in 65 CRISPR screens.
DR ChiTaRS; Zswim6; mouse.
DR PRO; PR:Q80TB7; -.
DR Proteomes; UP000000589; Chromosome 13.
DR RNAct; Q80TB7; protein.
DR Genevisible; Q80TB7; MM.
DR GO; GO:0031462; C:Cul2-RING ubiquitin ligase complex; IBA:GO_Central.
DR GO; GO:0032420; C:stereocilium; IDA:MGI.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0048812; P:neuron projection morphogenesis; IMP:MGI.
DR GO; GO:2001222; P:regulation of neuron migration; IMP:MGI.
DR GO; GO:0021773; P:striatal medium spiny neuron differentiation; IMP:UniProtKB.
DR InterPro; IPR007527; Znf_SWIM.
DR PROSITE; PS50966; ZF_SWIM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Neurogenesis; Reference proteome;
KW Zinc; Zinc-finger.
FT CHAIN 1..1207
FT /note="Zinc finger SWIM domain-containing protein 6"
FT /id="PRO_0000223106"
FT ZN_FING 238..275
FT /note="SWIM-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00325"
FT REGION 1..52
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 134..163
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 557..605
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12693553"
FT /id="VSP_009238"
FT VAR_SEQ 1061..1066
FT /note="INDVLW -> FVPFLT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12693553"
FT /id="VSP_009239"
FT VAR_SEQ 1067..1207
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12693553"
FT /id="VSP_009240"
SQ SEQUENCE 1207 AA; 133109 MW; 223C935EE2C5EF44 CRC64;
MAERGQQPPP AKRLCCRPGG GGGGGGGGGG SSGGGAGGGY SSACRPGPRA GGAAAAAACG
GGAALGLLPP GKTQSPESLL DIAARRVAEK WPFQRVEERF ERIPEPVQRR IVYWSFPRSE
REICMYSSFN TGGGSAGGPG DDSGGGGGRQ HGRGAAAGGS SSSPAATSAA AAAVAAGTGT
PSVGAASAAD GGDETRLPFR RGIALLESGC VDNVLQVGFH LSGTVTEPAI QPEPETVCNV
AISFDRCKIT SVTCSCGNKD IFYCAHVVAL SLYRIRKPEQ VKLHLPISET LFQMNRDQLQ
KFVQYLITVH HTEVLPTAQK LADEILSQNS EINQVHGAPD PTAGASIDDE NCWHLDEEQV
QEQVKVFLSQ GGYHGSGKQL NMLFAKVREM LKMRDSNGAR MLTLITEQFM ADPRLSLWRQ
QGTAMTDKYR QLWDELGALW MCIVLNPHCK LEQKASWLKQ LKKWNSVDVC PWEDGNHGSE
LPNLTNALPQ GANANQDSSN RPHRTVFTRA IEACDLHWQD SHLQHIISSD LYTNYCYHDD
TENSLFDSRG WPLWHEHVPT ACARVDALRS HGYPREALRL AIAIVNTLRR QQQKQLEMFR
TQKKELPHKS ITSITNLEGW VGHPLDPVGT LFSSLMEACH TDGDAFSGFS DCTDNMGQCK
SLEYHHLPAH KFLEEGESYV TLAVEVALIG LGQQRIMPDG LYTQEKVCRN EEQLISKLQE
IELDDTLVKI FRKQAVFLLE AGPYSGLGEI IHRESVPMHT FAKYLFTSLL PHDAELAYKI
ALRAMRLLVL ESTAPTGDLS RPHHIASVVP NRYPRWFTLS HIESQQCELA STMLTAAKGD
VRRLETVLES IQKNIHSSSH IFKLAQDAFK IATLMDSLPD ITLLKVSLEL GLQVMRMTLS
TLNWRRREMV RWLVTCATEV GVYALDSIMQ SWFTLFTPTE ATSIVATTVM SNSTIVRLHL
DCHQQEKLAS SARTLALQCA MKDPQNCALS ALTLCEKDHI AFETAYQIVL DAATTGMSYT
QLFTIARYME HRGYPMRAYK LATLAMTHLN LSYNQDTHPA INDVLWACAL SHSLGKNELA
AIIPLVVKSV KCATVLSDIL RRCTLTTPGM VGLHGRRNSG KLMSLDKAPL RQLLDATIGA
YINTTHSRLT HISPRHYSEF IEFLSKARET FLMAHDGHIQ FTQFIDNLKQ IYKGKKKLMM
LVRERFG
