RD21L_MOUSE
ID RD21L_MOUSE Reviewed; 552 AA.
AC A2AU37; E5RTP6; F6KST0;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 2.
DT 03-AUG-2022, entry version 106.
DE RecName: Full=Double-strand-break repair protein rad21-like protein 1;
GN Name=Rad21l1; Synonyms=Gm14160, Rad21l;
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 [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND IDENTIFICATION IN SOME MEIOTIC COHESIN COMPLEX.
RX PubMed=21527826; DOI=10.4161/cc.10.9.15515;
RA Gutierrez-Caballero C., Herran Y., Sanchez-Martin M., Suja J.A.,
RA Barbero J.L., Llano E., Pendas A.M.;
RT "Identification and molecular characterization of the mammalian alpha-
RT kleisin RAD21L.";
RL Cell Cycle 10:1477-1487(2011).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND IDENTIFICATION IN SOME MEIOTIC COHESIN COMPLEX.
RX PubMed=21274006; DOI=10.1038/embor.2011.2;
RA Ishiguro K.I., Kim J., Fujiyama-Nakamura S., Kato S., Watanabe Y.;
RT "A new meiosis-specific cohesin complex implicated in the cohesin code for
RT homologous pairing.";
RL EMBO Rep. 12:267-275(2011).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND IDENTIFICATION IN SOME MEIOTIC COHESIN COMPLEX.
RX PubMed=21242291; DOI=10.1083/jcb.201008005;
RA Lee J., Hirano T.;
RT "RAD21L, a novel cohesin subunit implicated in linking homologous
RT chromosomes in mammalian meiosis.";
RL J. Cell Biol. 192:263-276(2011).
RN [4]
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, AND DISRUPTION PHENOTYPE.
RX PubMed=21743440; DOI=10.1038/emboj.2011.222;
RA Herran Y., Gutierrez-Caballero C., Sanchez-Martin M., Hernandez T.,
RA Viera A., Barbero J.L., de Alava E., de Rooij D.G., Suja J.A., Llano E.,
RA Pendas A.M.;
RT "The cohesin subunit RAD21L functions in meiotic synapsis and exhibits
RT sexual dimorphism in fertility.";
RL EMBO J. 30:3091-3105(2011).
RN [6]
RP FUNCTION.
RX PubMed=22711701; DOI=10.1083/jcb.201201100;
RA Llano E., Herran Y., Garcia-Tunon I., Gutierrez-Caballero C., de Alava E.,
RA Barbero J.L., Schimenti J., de Rooij D.G., Sanchez-Martin M., Pendas A.M.;
RT "Meiotic cohesin complexes are essential for the formation of the axial
RT element in mice.";
RL J. Cell Biol. 197:877-885(2012).
CC -!- FUNCTION: Meiosis-specific component of some cohesin complex required
CC during the initial steps of prophase I in male meiosis. Probably
CC required during early meiosis in males for separation of sister
CC chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S
CC phase (during early stages of prophase I), while RAD21 reappears in
CC later stages of prophase I. Involved in synaptonemal complex assembly,
CC synapsis initiation and crossover recombination between homologous
CC chromosomes during prophase I. Not required for meiosis in females in
CC young mice, while it is required later as mice age.
CC {ECO:0000269|PubMed:21242291, ECO:0000269|PubMed:21274006,
CC ECO:0000269|PubMed:21527826, ECO:0000269|PubMed:21743440,
CC ECO:0000269|PubMed:22711701}.
CC -!- SUBUNIT: Component of some meiotic cohesin complex composed of the SMC1
CC (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain,
CC RAD21L which link them, and STAG3. {ECO:0000269|PubMed:21242291,
CC ECO:0000269|PubMed:21274006, ECO:0000269|PubMed:21527826}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21242291,
CC ECO:0000269|PubMed:21274006, ECO:0000269|PubMed:21527826,
CC ECO:0000269|PubMed:21743440}. Chromosome {ECO:0000269|PubMed:21242291,
CC ECO:0000269|PubMed:21274006, ECO:0000269|PubMed:21527826,
CC ECO:0000269|PubMed:21743440}. Note=In meiotic chromosomes, localized
CC along axial elements in early meiosis: detectable on the axial elements
CC in leptotene, and stays on the axial/lateral elements until mid
CC pachytene. It then disappears and is replaced with RAD21. Compared to
CC REC8, has mutually exclusive loading sites on the chromosomes: REC8 and
CC RAD21L form distinct cohesin-enriched domains along the axial elements.
CC {ECO:0000269|PubMed:21242291, ECO:0000269|PubMed:21274006,
CC ECO:0000269|PubMed:21743440}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in male and female gonads
CC (at protein level). {ECO:0000269|PubMed:21242291,
CC ECO:0000269|PubMed:21274006, ECO:0000269|PubMed:21527826}.
CC -!- DISRUPTION PHENOTYPE: Male mice are sterile due to defects in
CC chromosome synapsis at prophase I, leading to an arrest at a zygotene-
CC like stage leading to total azoospermia. Females are fertile but
CC develop an age-dependent sterility. {ECO:0000269|PubMed:21743440}.
CC -!- SIMILARITY: Belongs to the rad21 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAM23443.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; HQ603828; AEF15807.1; -; mRNA.
DR EMBL; AB602048; BAJ49869.1; -; mRNA.
DR EMBL; AB574185; BAJ53091.1; -; mRNA.
DR EMBL; AL928988; CAM23443.1; ALT_SEQ; Genomic_DNA.
DR CCDS; CCDS50747.2; -.
DR RefSeq; NP_001263329.1; NM_001276400.1.
DR RefSeq; XP_006500105.1; XM_006500042.2.
DR RefSeq; XP_006500106.1; XM_006500043.2.
DR AlphaFoldDB; A2AU37; -.
DR DIP; DIP-60729N; -.
DR IntAct; A2AU37; 8.
DR MINT; A2AU37; -.
DR STRING; 10090.ENSMUSP00000136918; -.
DR iPTMnet; A2AU37; -.
DR PhosphoSitePlus; A2AU37; -.
DR PaxDb; A2AU37; -.
DR PeptideAtlas; A2AU37; -.
DR PRIDE; A2AU37; -.
DR Antibodypedia; 62726; 10 antibodies from 6 providers.
DR Ensembl; ENSMUST00000180195; ENSMUSP00000136918; ENSMUSG00000074704.
DR GeneID; 668929; -.
DR KEGG; mmu:668929; -.
DR UCSC; uc012cfy.1; mouse.
DR CTD; 668929; -.
DR MGI; MGI:3652039; Rad21l.
DR VEuPathDB; HostDB:ENSMUSG00000074704; -.
DR eggNOG; KOG1213; Eukaryota.
DR GeneTree; ENSGT00940000161638; -.
DR InParanoid; A2AU37; -.
DR OMA; YCPVELE; -.
DR OrthoDB; 1253899at2759; -.
DR PhylomeDB; A2AU37; -.
DR TreeFam; TF101215; -.
DR BioGRID-ORCS; 668929; 2 hits in 108 CRISPR screens.
DR PRO; PR:A2AU37; -.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; A2AU37; protein.
DR Bgee; ENSMUSG00000074704; Expressed in morula and 15 other tissues.
DR ExpressionAtlas; A2AU37; baseline and differential.
DR GO; GO:0005694; C:chromosome; IDA:UniProtKB.
DR GO; GO:0008278; C:cohesin complex; IBA:GO_Central.
DR GO; GO:0000794; C:condensed nuclear chromosome; IDA:MGI.
DR GO; GO:0000800; C:lateral element; IDA:MGI.
DR GO; GO:0030893; C:meiotic cohesin complex; IDA:UniProtKB.
DR GO; GO:0034991; C:nuclear meiotic cohesin complex; IDA:MGI.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0006302; P:double-strand break repair; IMP:MGI.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; IGI:MGI.
DR GO; GO:0009566; P:fertilization; IMP:MGI.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IMP:MGI.
DR GO; GO:0070197; P:meiotic attachment of telomere to nuclear envelope; IMP:MGI.
DR GO; GO:1990414; P:replication-born double-strand break repair via sister chromatid exchange; IBA:GO_Central.
DR GO; GO:0072520; P:seminiferous tubule development; IGI:MGI.
DR GO; GO:0007062; P:sister chromatid cohesion; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IMP:MGI.
DR GO; GO:0007130; P:synaptonemal complex assembly; IGI:MGI.
DR Gene3D; 1.10.10.580; -; 1.
DR InterPro; IPR039781; Rad21/Rec8-like.
DR InterPro; IPR006909; Rad21/Rec8_C_eu.
DR InterPro; IPR006910; Rad21_Rec8_N.
DR InterPro; IPR023093; ScpA-like_C.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR12585; PTHR12585; 1.
DR Pfam; PF04824; Rad21_Rec8; 1.
DR Pfam; PF04825; Rad21_Rec8_N; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
PE 1: Evidence at protein level;
KW Chromosome; Chromosome partition; Meiosis; Nucleus; Reference proteome.
FT CHAIN 1..552
FT /note="Double-strand-break repair protein rad21-like
FT protein 1"
FT /id="PRO_0000321922"
FT REGION 389..409
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 552 AA; 62670 MW; 3953B40BFE0749B9 CRC64;
MFYTHVLMSK RGPLAKIWLA AHWEKKLTKA HVFECNLEIT IQKIISPKVK IALRTSGHLL
LGVVRIYNRK AKYLLADCSE AFLKMKMTFR PGLVDLPKEN FEAAYNTITL PEEFHDFEIY
NINEIDISEP LAQNQSRPEE ITLREEYSND LLFQAGSFGD EPEILRRHSF FDDNILMNSS
GLVVEHSSGS FAEEKSLFFD NGDGFGDEGA AGEMIDNLLQ DESTFLEEAY LNKEVSLPPE
LPSSIMVEPG NSDDQCIPED EEINEITLLS NEDEGFTLDP IDDLDIADRR RRKKRRLLVD
PVKEISSKAM HRQLASFMDT LMVLDLAPPT QRLMMWKKRG GVDMLLSTAT QDLINDELKM
LFTKCFLSSD YKLAKLTLKE SVRKEVGNQQ IAEPSVMGEP NSHSELDQPQ DWKDVTDESV
GSFQENVNMN VNSEQDILGM ISPAVEGLSS MNGSLAQENC PAELESSGSK QNTEAEKWNQ
RLFQTLNVLR EFNKMGMQSF SLKKLCRNSD RKQAAAKFYT LLILKKHRAI ELSQSVPYAD
IIATVGPMFY KM