RD21L_HUMAN
ID RD21L_HUMAN Reviewed; 556 AA.
AC Q9H4I0; B2RXL0; B7ZBB1; B7ZW76; Q5W0X5;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 22-SEP-2009, sequence version 3.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Double-strand-break repair protein rad21-like protein 1;
GN Name=RAD21L1; Synonyms=RAD21L;
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 GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ARG-90 AND
RP LEU-152.
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).
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 (By similarity). {ECO:0000250}.
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:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:A2AU37}.
CC Chromosome {ECO:0000250|UniProtKB:A2AU37}. Note=In meiotic chromosomes,
CC localized along axial elements in early meiosis: detectable on the
CC axial elements in leptotene, and stays on the axial/lateral elements
CC until mid pachytene. It then disappears and is replaced with RAD21.
CC Compared to REC8, has mutually exclusive loading sites on the
CC chromosomes: REC8 and RAD21L form distinct cohesin-enriched domains
CC along the axial elements. {ECO:0000250|UniProtKB:A2AU37}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H4I0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H4I0-2; Sequence=VSP_038157, VSP_038158;
CC -!- SIMILARITY: Belongs to the rad21 family. {ECO:0000305}.
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DR EMBL; AL031665; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136531; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC157891; AAI57892.1; -; mRNA.
DR EMBL; BC171911; AAI71911.1; -; mRNA.
DR CCDS; CCDS46568.1; -. [Q9H4I0-1]
DR RefSeq; NP_001130038.2; NM_001136566.2. [Q9H4I0-1]
DR RefSeq; XP_006723668.1; XM_006723605.3. [Q9H4I0-1]
DR AlphaFoldDB; Q9H4I0; -.
DR BioGRID; 568137; 2.
DR STRING; 9606.ENSP00000386414; -.
DR iPTMnet; Q9H4I0; -.
DR PhosphoSitePlus; Q9H4I0; -.
DR BioMuta; RAD21L1; -.
DR DMDM; 259016327; -.
DR jPOST; Q9H4I0; -.
DR MassIVE; Q9H4I0; -.
DR MaxQB; Q9H4I0; -.
DR PaxDb; Q9H4I0; -.
DR PeptideAtlas; Q9H4I0; -.
DR PRIDE; Q9H4I0; -.
DR ProteomicsDB; 80840; -. [Q9H4I0-1]
DR ProteomicsDB; 80841; -. [Q9H4I0-2]
DR Antibodypedia; 62726; 10 antibodies from 6 providers.
DR DNASU; 642636; -.
DR Ensembl; ENST00000402452.5; ENSP00000385925.1; ENSG00000244588.6. [Q9H4I0-2]
DR Ensembl; ENST00000409241.5; ENSP00000386414.1; ENSG00000244588.6. [Q9H4I0-1]
DR GeneID; 642636; -.
DR KEGG; hsa:642636; -.
DR UCSC; uc010gab.1; human. [Q9H4I0-1]
DR CTD; 642636; -.
DR DisGeNET; 642636; -.
DR GeneCards; RAD21L1; -.
DR HGNC; HGNC:16271; RAD21L1.
DR HPA; ENSG00000244588; Tissue enriched (testis).
DR MIM; 619533; gene.
DR neXtProt; NX_Q9H4I0; -.
DR OpenTargets; ENSG00000244588; -.
DR PharmGKB; PA34171; -.
DR VEuPathDB; HostDB:ENSG00000244588; -.
DR eggNOG; KOG1213; Eukaryota.
DR GeneTree; ENSGT00940000161638; -.
DR HOGENOM; CLU_015775_1_1_1; -.
DR InParanoid; Q9H4I0; -.
DR OMA; YCPVELE; -.
DR OrthoDB; 1253899at2759; -.
DR PhylomeDB; Q9H4I0; -.
DR TreeFam; TF101215; -.
DR PathwayCommons; Q9H4I0; -.
DR SIGNOR; Q9H4I0; -.
DR BioGRID-ORCS; 642636; 9 hits in 1064 CRISPR screens.
DR ChiTaRS; RAD21L1; human.
DR GenomeRNAi; 642636; -.
DR Pharos; Q9H4I0; Tdark.
DR PRO; PR:Q9H4I0; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9H4I0; protein.
DR Bgee; ENSG00000244588; Expressed in sperm and 28 other tissues.
DR ExpressionAtlas; Q9H4I0; baseline and differential.
DR Genevisible; Q9H4I0; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0008278; C:cohesin complex; IBA:GO_Central.
DR GO; GO:0030893; C:meiotic cohesin complex; ISS:UniProtKB.
DR GO; GO:0034991; C:nuclear meiotic cohesin complex; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central.
DR GO; GO:0051321; P:meiotic cell cycle; IEA:UniProtKB-KW.
DR GO; GO:1990414; P:replication-born double-strand break repair via sister chromatid exchange; IBA:GO_Central.
DR GO; GO:0007062; P:sister chromatid cohesion; IBA:GO_Central.
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 2: Evidence at transcript level;
KW Alternative splicing; Chromosome; Chromosome partition; Meiosis; Nucleus;
KW Reference proteome.
FT CHAIN 1..556
FT /note="Double-strand-break repair protein rad21-like
FT protein 1"
FT /id="PRO_0000321921"
FT VAR_SEQ 437..468
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_038157"
FT VAR_SEQ 495..556
FT /note="ESNKMGMQSFSLMKLCRNSDRKQAAAKFYSFLVLKKQLAIELSQSAPYADII
FT ATMGPMFYNI -> VADQGQAAAAATAEALRQAGPEWCEPAGLRRASGLSPRDTAHPTP
FT YSDPQPHGHVPARK (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_038158"
FT VARIANT 90
FT /note="C -> R (in dbSNP:rs450739)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_064917"
FT VARIANT 152
FT /note="I -> L (in dbSNP:rs203534)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_064918"
FT VARIANT 423
FT /note="H -> P (in dbSNP:rs17717241)"
FT /id="VAR_064919"
FT CONFLICT 525
FT /note="F -> L (in Ref. 2; AAI71911)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 556 AA; 63324 MW; 613CEE9BAF8DBE74 CRC64;
MFYTHVLMSK RGPLAKIWLA AHWEKKLTKA HVFECNLEIT IEKILSPKVK IALRTSGHLL
LGVVRIYNRK AKYLLADCSE AFLKMKMTFC PGLVDLPKEN FEASYNAITL PEEFHDFDTQ
NMNAIDVSEH FTQNQSRPEE ITLRENFDND LIFQAESFGE ESEILRRHSF FDDNILLNSS
GPLIEHSSGS LTGERSLFYD SGDGFGDEGA AGEMIDNLLQ DDQNILLEDM HLNREISLPS
EPPNSLAVEP DNSECICVPE NEKMNETILL STEEEGFTLD PIDISDIAEK RKGKKRRLLI
DPIKELSSKV IHKQLTSFAD TLMVLELAPP TQRLMMWKKR GGVHTLLSTA AQDLIHAELK
MLFTKCFLSS GFKLGRKMIQ KESVREEVGN QNIVETSMMQ EPNYQQELSK PQTWKDVIGG
SQHSSHEDTN KNINSEQDIV EMVSLAAEES SLMNDLFAQE IEYSPVELES LSNEENIETE
RWNGRILQML NRLRESNKMG MQSFSLMKLC RNSDRKQAAA KFYSFLVLKK QLAIELSQSA
PYADIIATMG PMFYNI
