SCC4_HUMAN
ID SCC4_HUMAN Reviewed; 613 AA.
AC Q9Y6X3; Q66PT1; Q6P3S7; Q6ZTT2; Q9UFX8;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 155.
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:0000303|PubMed:22628566};
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 MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Thymus;
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 393-613 (ISOFORM 1).
RC TISSUE=Choriocarcinoma, and PNS;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-613 (ISOFORM 2).
RC TISSUE=Testis;
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 [6]
RP FUNCTION, INTERACTION WITH NIPBL, AND SUBCELLULAR LOCATION.
RX PubMed=16802858; DOI=10.1371/journal.pbio.0040242;
RA Seitan V.C., Banks P., Laval S., Majid N.A., Dorsett D., Rana A., Smith J.,
RA Bateman A., Krpic S., Hostert A., Rollins R.A., Erdjument-Bromage H.,
RA Tempst P., Benard C.Y., Hekimi S., Newbury S.F., Strachan T.;
RT "Metazoan Scc4 homologs link sister chromatid cohesion to cell and axon
RT migration guidance.";
RL PLoS Biol. 4:E242-E242(2006).
RN [7]
RP FUNCTION, INTERACTION WITH NIPBL, AND SUBCELLULAR LOCATION.
RX PubMed=16682347; DOI=10.1016/j.cub.2006.03.049;
RA Watrin E., Schleiffer A., Tanaka K., Eisenhaber F., Nasmyth K.,
RA Peters J.M.;
RT "Human Scc4 is required for cohesin binding to chromatin, sister-chromatid
RT cohesion, and mitotic progression.";
RL Curr. Biol. 16:863-874(2006).
RN [8]
RP INTERACTION WITH NIPBL, VARIANT 4-GLN--ALA-8 DEL, AND CHARACTERIZATION OF
RP VARIANT 4-GLN--ALA-8 DEL.
RX PubMed=21934712; DOI=10.1038/ejhg.2011.175;
RA Braunholz D., Hullings M., Gil-Rodriguez M.C., Fincher C.T., Mallozzi M.B.,
RA Loy E., Albrecht M., Kaur M., Limon J., Rampuria A., Clark D., Kline A.,
RA Dalski A., Eckhold J., Tzschach A., Hennekam R., Gillessen-Kaesbach G.,
RA Wierzba J., Krantz I.D., Deardorff M.A., Kaiser F.J.;
RT "Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome
RT alter MAU2 interaction.";
RL Eur. J. Hum. Genet. 20:271-276(2012).
RN [9]
RP FUNCTION, AND INTERACTION WITH NIPBL; HETERODIMER SMC1A-SMC3 AND THE
RP COHESIN COMPLEX.
RX PubMed=22628566; DOI=10.1073/pnas.1206840109;
RA Bermudez V.P., Farina A., Higashi T.L., Du F., Tappin I., Takahashi T.S.,
RA Hurwitz J.;
RT "In vitro loading of human cohesin on DNA by the human Scc2-Scc4 loader
RT complex.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:9366-9371(2012).
RN [10]
RP FUNCTION, INTERACTION WITH NIPBL, AND SUBCELLULAR LOCATION.
RX PubMed=28167679; DOI=10.1242/jcs.197236;
RA Bot C., Pfeiffer A., Giordano F., Manjeera D.E., Dantuma N.P., Stroem L.;
RT "Independent mechanisms recruit the cohesin loader protein NIPBL to sites
RT of DNA damage.";
RL J. Cell Sci. 130:1134-1146(2017).
CC -!- FUNCTION: Plays an important role in the loading of the cohesin complex
CC on to DNA. Forms a heterodimeric complex (also known as cohesin loading
CC complex) with NIPBL/SCC2 which mediates the loading of the cohesin
CC complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role
CC in sister chromatid cohesion and normal progression through
CC prometaphase (PubMed:16802858, PubMed:16682347).
CC {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858,
CC ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679}.
CC -!- SUBUNIT: Heterodimerizes with MAU2/SCC2 to form the cohesin loading
CC complex (PubMed:16682347, PubMed:16802858, PubMed:21934712,
CC PubMed:28167679, PubMed:22628566). The NIPBL-MAU2 heterodimer interacts
CC with the SMC1A-SMC3 heterodimer and with the cohesin complex composed
CC of SMC1A, SMC3, RAD21 and STAG1 (PubMed:22628566).
CC {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858,
CC ECO:0000269|PubMed:21934712, ECO:0000269|PubMed:22628566,
CC ECO:0000269|PubMed:28167679}.
CC -!- INTERACTION:
CC Q9Y6X3; Q6KC79: NIPBL; NbExp=7; IntAct=EBI-4395624, EBI-722767;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm
CC {ECO:0000269|PubMed:16682347, ECO:0000269|PubMed:16802858}. Nucleus
CC {ECO:0000269|PubMed:28167679}. Chromosome
CC {ECO:0000250|UniProtKB:Q9D2X5}. Note=Binds to chromatin from the end of
CC mitosis until prophase.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y6X3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y6X3-2; Sequence=VSP_021224, VSP_021226;
CC Name=3;
CC IsoId=Q9Y6X3-3; Sequence=VSP_021223, VSP_021225;
CC -!- SIMILARITY: Belongs to the SCC4/mau-2 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA74915.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB020699; BAA74915.1; ALT_INIT; mRNA.
DR EMBL; AK126227; BAC86497.1; -; mRNA.
DR EMBL; AC022543; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC010222; AAH10222.4; -; mRNA.
DR EMBL; BC063863; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AL110250; CAB53698.1; -; mRNA.
DR CCDS; CCDS32969.2; -. [Q9Y6X3-1]
DR PIR; T14778; T14778.
DR RefSeq; NP_056144.3; NM_015329.3. [Q9Y6X3-1]
DR AlphaFoldDB; Q9Y6X3; -.
DR BioGRID; 116959; 135.
DR DIP; DIP-29196N; -.
DR IntAct; Q9Y6X3; 13.
DR MINT; Q9Y6X3; -.
DR STRING; 9606.ENSP00000262815; -.
DR GlyGen; Q9Y6X3; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q9Y6X3; -.
DR PhosphoSitePlus; Q9Y6X3; -.
DR SwissPalm; Q9Y6X3; -.
DR BioMuta; MAU2; -.
DR DMDM; 118597347; -.
DR EPD; Q9Y6X3; -.
DR jPOST; Q9Y6X3; -.
DR MassIVE; Q9Y6X3; -.
DR MaxQB; Q9Y6X3; -.
DR PaxDb; Q9Y6X3; -.
DR PeptideAtlas; Q9Y6X3; -.
DR PRIDE; Q9Y6X3; -.
DR ProteomicsDB; 86811; -. [Q9Y6X3-1]
DR ProteomicsDB; 86812; -. [Q9Y6X3-2]
DR ProteomicsDB; 86813; -. [Q9Y6X3-3]
DR Antibodypedia; 28455; 41 antibodies from 17 providers.
DR DNASU; 23383; -.
DR Ensembl; ENST00000262815.13; ENSP00000262815.9; ENSG00000129933.21. [Q9Y6X3-1]
DR GeneID; 23383; -.
DR KEGG; hsa:23383; -.
DR MANE-Select; ENST00000262815.13; ENSP00000262815.9; NM_015329.4; NP_056144.3.
DR UCSC; uc002nmk.5; human. [Q9Y6X3-1]
DR CTD; 23383; -.
DR DisGeNET; 23383; -.
DR GeneCards; MAU2; -.
DR HGNC; HGNC:29140; MAU2.
DR HPA; ENSG00000129933; Low tissue specificity.
DR MIM; 614560; gene.
DR neXtProt; NX_Q9Y6X3; -.
DR OpenTargets; ENSG00000129933; -.
DR PharmGKB; PA134991458; -.
DR VEuPathDB; HostDB:ENSG00000129933; -.
DR eggNOG; KOG2300; Eukaryota.
DR GeneTree; ENSGT00390000012198; -.
DR HOGENOM; CLU_030238_0_0_1; -.
DR InParanoid; Q9Y6X3; -.
DR OMA; SSQDAWY; -.
DR OrthoDB; 240898at2759; -.
DR PhylomeDB; Q9Y6X3; -.
DR TreeFam; TF105981; -.
DR PathwayCommons; Q9Y6X3; -.
DR Reactome; R-HSA-2470946; Cohesin Loading onto Chromatin.
DR SignaLink; Q9Y6X3; -.
DR BioGRID-ORCS; 23383; 428 hits in 1097 CRISPR screens.
DR ChiTaRS; MAU2; human.
DR GenomeRNAi; 23383; -.
DR Pharos; Q9Y6X3; Tdark.
DR PRO; PR:Q9Y6X3; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9Y6X3; protein.
DR Bgee; ENSG00000129933; Expressed in lateral globus pallidus and 197 other tissues.
DR ExpressionAtlas; Q9Y6X3; baseline and differential.
DR Genevisible; Q9Y6X3; HS.
DR GO; GO:0000785; C:chromatin; IDA:UniProtKB.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0090694; C:Scc2-Scc4 cohesin loading complex; IDA:UniProtKB.
DR GO; GO:0032116; C:SMC loading complex; IDA:UniProtKB.
DR GO; GO:0003690; F:double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0047485; F:protein N-terminus binding; IPI:UniProtKB.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0071921; P:cohesin loading; IDA:UniProtKB.
DR GO; GO:0034088; P:maintenance of mitotic sister chromatid cohesion; IMP: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..613
FT /note="MAU2 chromatid cohesion factor homolog"
FT /id="PRO_0000254548"
FT REPEAT 107..140
FT /note="TPR 1"
FT REPEAT 379..412
FT /note="TPR 2"
FT REPEAT 459..492
FT /note="TPR 3"
FT REPEAT 499..532
FT /note="TPR 4"
FT REGION 1..115
FT /note="Sufficient for interaction with NIPBL"
FT VAR_SEQ 1..424
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021223"
FT VAR_SEQ 1..394
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_021224"
FT VAR_SEQ 425..437
FT /note="VYIREGNRHQEVL -> MQNGADWLFPPQL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021225"
FT VAR_SEQ 436
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_021226"
FT VARIANT 4..8
FT /note="Missing (found in a patient with CDLS1; unknown
FT pathological significance; no effect on interaction with
FT NIBPL)"
FT /evidence="ECO:0000269|PubMed:21934712"
FT /id="VAR_073019"
SQ SEQUENCE 613 AA; 69082 MW; 47E33F5CE6504047 CRC64;
MAAQAAAAAQ AAAAQAAQAE AADSWYLALL GFAEHFRTSS PPKIRLCVHC LQAVFPFKPP
QRIEARTHLQ LGSVLYHHTK NSEQARSHLE KAWLISQQIP QFEDVKFEAA SLLSELYCQE
NSVDAAKPLL RKAIQISQQT PYWHCRLLFQ LAQLHTLEKD LVSACDLLGV GAEYARVVGS
EYTRALFLLS KGMLLLMERK LQEVHPLLTL CGQIVENWQG NPIQKESLRV FFLVLQVTHY
LDAGQVKSVK PCLKQLQQCI QTISTLHDDE ILPSNPADLF HWLPKEHMCV LVYLVTVMHS
MQAGYLEKAQ KYTDKALMQL EKLKMLDCSP ILSSFQVILL EHIIMCRLVT GHKATALQEI
SQVCQLCQQS PRLFSNHAAQ LHTLLGLYCV SVNCMDNAEA QFTTALRLTN HQELWAFIVT
NLASVYIREG NRHQEVLYSL LERINPDHSF PVSSHCLRAA AFYVRGLFSF FQGRYNEAKR
FLRETLKMSN AEDLNRLTAC SLVLLGHIFY VLGNHRESNN MVVPAMQLAS KIPDMSVQLW
SSALLRDLNK ACGNAMDAHE AAQMHQNFSQ QLLQDHIEAC SLPEHNLITW TDGPPPVQFQ
AQNGPNTSLA SLL
