SCC4_MOUSE
ID SCC4_MOUSE Reviewed; 619 AA.
AC Q9D2X5; B7ZN38; Q059Q4; Q5DU12; Q78IR4; Q8BUW9; Q8BX04;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-SEP-2009, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=MAU2 chromatid cohesion factor homolog;
DE Short=MAU-2;
DE AltName: Full=Cohesin loading complex subunit SCC4 homolog;
GN Name=Mau2; Synonyms=Kiaa0892, Scc4 {ECO:0000250|UniProtKB:Q9Y6X3};
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 STRAIN=C57BL/6J; TISSUE=Brain, Cecum, and Head;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC STRAIN=FVB/N; TISSUE=Brain, and Kidney;
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 502-619 (ISOFORMS 1/2).
RA Okazaki N., Kikuno R.F., Ohara R., Inamoto S., Nagase T., Ohara O.,
RA Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene. The
RT complete nucleotide sequences of mouse KIAA-homologous cDNAs identified by
RT screening of terminal sequences of cDNA clones randomly sampled from size-
RT fractionated libraries.";
RL Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Spleen;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=24287868; DOI=10.1007/s00412-013-0444-7;
RA Visnes T., Giordano F., Kuznetsova A., Suja J.A., Lander A.D., Calof A.L.,
RA Stroem L.;
RT "Localisation of the SMC loading complex Nipbl/Mau2 during mammalian
RT meiotic prophase I.";
RL Chromosoma 123:239-252(2014).
CC -!- FUNCTION: Plays an important role in the loading of the cohesin complex
CC on to DNA. Forms a heterodim. eric complex (also known as cohesin
CC loading complex) with NIPBL/SCC2 which mediates the loading of the
CC cohesin complex onto chromatin Plays a role in sister chromatid
CC cohesion and normal progression through prometaphase.
CC {ECO:0000250|UniProtKB:Q9Y6X3}.
CC -!- SUBUNIT: Heterodimerizes with MAU2/SCC2 to form the cohesin loading
CC complex. The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3
CC heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21
CC and STAG1. {ECO:0000250|UniProtKB:Q9Y6X3}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000250|UniProtKB:Q9Y6X3}. Chromosome
CC {ECO:0000269|PubMed:24287868}. Nucleus {ECO:0000250|UniProtKB:Q9Y6X3}.
CC Note=Binds to chromatin from the end of mitosis until prophase.
CC {ECO:0000250|UniProtKB:Q9Y6X3}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9D2X5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9D2X5-2; Sequence=VSP_037924;
CC -!- TISSUE SPECIFICITY: Spermatocytes and oocytes (at protein level).
CC {ECO:0000269|PubMed:24287868}.
CC -!- SIMILARITY: Belongs to the SCC4/mau-2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH23401.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK018662; BAB31331.2; -; mRNA.
DR EMBL; AK049277; BAC33653.1; -; mRNA.
DR EMBL; AK081967; BAC38382.1; -; mRNA.
DR EMBL; BC023401; AAH23401.1; ALT_INIT; mRNA.
DR EMBL; BC125568; AAI25569.1; -; mRNA.
DR EMBL; BC132139; AAI32140.1; -; mRNA.
DR EMBL; BC144990; AAI44991.1; -; mRNA.
DR EMBL; AK220358; BAD90246.1; -; mRNA.
DR CCDS; CCDS40364.1; -. [Q9D2X5-2]
DR RefSeq; NP_001161411.1; NM_001167939.1.
DR RefSeq; NP_083269.4; NM_028993.4. [Q9D2X5-2]
DR RefSeq; XP_006509839.1; XM_006509776.3.
DR AlphaFoldDB; Q9D2X5; -.
DR BioGRID; 216835; 11.
DR IntAct; Q9D2X5; 11.
DR MINT; Q9D2X5; -.
DR STRING; 10090.ENSMUSP00000131966; -.
DR iPTMnet; Q9D2X5; -.
DR PhosphoSitePlus; Q9D2X5; -.
DR EPD; Q9D2X5; -.
DR MaxQB; Q9D2X5; -.
DR PaxDb; Q9D2X5; -.
DR PeptideAtlas; Q9D2X5; -.
DR PRIDE; Q9D2X5; -.
DR ProteomicsDB; 255484; -. [Q9D2X5-1]
DR ProteomicsDB; 255485; -. [Q9D2X5-2]
DR Antibodypedia; 28455; 41 antibodies from 17 providers.
DR DNASU; 74549; -.
DR Ensembl; ENSMUST00000050561; ENSMUSP00000054763; ENSMUSG00000031858. [Q9D2X5-2]
DR Ensembl; ENSMUST00000212451; ENSMUSP00000148601; ENSMUSG00000031858. [Q9D2X5-1]
DR GeneID; 74549; -.
DR KEGG; mmu:74549; -.
DR UCSC; uc009lyj.2; mouse. [Q9D2X5-1]
DR UCSC; uc009lyk.2; mouse. [Q9D2X5-2]
DR CTD; 23383; -.
DR MGI; MGI:1921799; Mau2.
DR VEuPathDB; HostDB:ENSMUSG00000031858; -.
DR eggNOG; KOG2300; Eukaryota.
DR GeneTree; ENSGT00390000012198; -.
DR HOGENOM; CLU_030238_0_0_1; -.
DR InParanoid; Q9D2X5; -.
DR OMA; SSQDAWY; -.
DR OrthoDB; 240898at2759; -.
DR PhylomeDB; Q9D2X5; -.
DR Reactome; R-MMU-2470946; Cohesin Loading onto Chromatin.
DR BioGRID-ORCS; 74549; 18 hits in 73 CRISPR screens.
DR ChiTaRS; Mau2; mouse.
DR PRO; PR:Q9D2X5; -.
DR Proteomes; UP000000589; Chromosome 8.
DR RNAct; Q9D2X5; protein.
DR Bgee; ENSMUSG00000031858; Expressed in rostral migratory stream and 264 other tissues.
DR ExpressionAtlas; Q9D2X5; baseline and differential.
DR Genevisible; Q9D2X5; MM.
DR GO; GO:0000785; C:chromatin; IDA:MGI.
DR GO; GO:0016604; C:nuclear body; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0090694; C:Scc2-Scc4 cohesin loading complex; ISS:UniProtKB.
DR GO; GO:0032116; C:SMC loading complex; ISS:UniProtKB.
DR GO; GO:0003690; F:double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0047485; F:protein N-terminus binding; ISO:MGI.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0071921; P:cohesin loading; ISS:UniProtKB.
DR GO; GO:0034088; P:maintenance of mitotic sister chromatid cohesion; ISS:UniProtKB.
DR Gene3D; 1.25.40.10; -; 2.
DR InterPro; IPR019440; MAU2.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR PANTHER; PTHR21394; PTHR21394; 1.
DR Pfam; PF10345; Cohesin_load; 1.
DR SMART; SM00028; TPR; 3.
DR SUPFAM; SSF48452; SSF48452; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Cell division; Chromosome;
KW Chromosome partition; Mitosis; Nucleus; Reference proteome; Repeat;
KW TPR repeat.
FT CHAIN 1..619
FT /note="MAU2 chromatid cohesion factor homolog"
FT /id="PRO_0000254549"
FT REPEAT 113..146
FT /note="TPR 1"
FT REPEAT 385..418
FT /note="TPR 2"
FT REPEAT 465..498
FT /note="TPR 3"
FT REPEAT 505..538
FT /note="TPR 4"
FT REGION 1..121
FT /note="Sufficient for interaction with NIPBL"
FT /evidence="ECO:0000250"
FT VAR_SEQ 442
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_037924"
FT CONFLICT 308
FT /note="Q -> H (in Ref. 1; BAC33653)"
FT /evidence="ECO:0000305"
FT CONFLICT 325
FT /note="Q -> R (in Ref. 1; BAC38382)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 619 AA; 69579 MW; 27D2FF1AE5E9337D CRC64;
MAAQAAAAAQ AAAAAQAAAA QAAQAEAAES WYLALLGFAE HFRTSSPPKI RLCVHCLQAV
FPFKPPQRIE ARTHLQLGSV LYHHTKNSEQ ARSHLEKAWL ISQQIPQFED VKFEAASLLS
ELYCQENSVD AAKPLLRKAI QISQQTPYWH CRLLFQLAQL HTLEKDLVSA CDLLGVGAEY
ARVVGSEYTR ALFLLSKGML LLMERKLQEV HPLLTLCGQI VENWQGNPIQ KESLRVFFLV
LQVTHYLDAG QVKSVKPCLK QLQQCIQTIS TLHDDEILPS NPADLFHWLP KEHMCVLVYL
VTVMHSMQAG YLEKAQKYTD KALMQLEKLK MLDCSPILSS FQVILLEHII MCRLVTGHKA
TALQEISQVC QLCQQSPRLF SNHAAQLHTL LGLYCVSVNC MDNAEAQFTT ALRLTNHQEL
WAFIVTNLAS VYIREGNRHQ EVLYSLLERI NPDHSFPVSS HCLRAAAFYV RGLFSFFQGR
YNEAKRFLRE TLKMSNAEDL NRLTACSLVL LGHIFYVLGN HRESNNMVVP AMQLASKIPD
MSVQLWSSAL LRDLNKACGN AMDAHEAAQM HQNFSQQLLQ DHIEACSLPE HNLITWTDGP
PPVQFQAQNG PNTSLASLL