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Protein

Double-strand-break repair protein rad21-like protein 1

Gene

RAD21L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity).By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Chromosome partition, Meiosis

Names & Taxonomyi

Protein namesi
Recommended name:
Double-strand-break repair protein rad21-like protein 1
Gene namesi
Name:RAD21L1
Synonyms:RAD21L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16271. RAD21L1.

Subcellular locationi

  • Nucleus By similarity
  • Chromosome By similarity

  • Note: In meiotic chromosomes, localized along axial elements in early meiosis: detectable on the axial elements in leptotene, and stays on the axial/lateral elements until mid pachytene. It then disappears and is replaced with RAD21. Compared to REC8, has mutually exclusive loading sites on the chromosomes: REC8 and RAD21L form distinct cohesin-enriched domains along the axial elements (By similarity).By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34171.

Polymorphism and mutation databases

BioMutaiRAD21L1.
DMDMi259016327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 556556Double-strand-break repair protein rad21-like protein 1PRO_0000321921Add
BLAST

Proteomic databases

PaxDbiQ9H4I0.
PRIDEiQ9H4I0.

PTM databases

PhosphoSiteiQ9H4I0.

Expressioni

Gene expression databases

BgeeiQ9H4I0.
GenevisibleiQ9H4I0. HS.

Organism-specific databases

HPAiHPA053282.

Interactioni

Subunit structurei

Component of some meiotic cohesin complex composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domain, RAD21L which link them, and STAG3.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000386414.

Structurei

3D structure databases

ProteinModelPortaliQ9H4I0.
SMRiQ9H4I0. Positions 18-87, 295-367.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the rad21 family.Curated

Phylogenomic databases

eggNOGiNOG301899.
GeneTreeiENSGT00390000011606.
HOGENOMiHOG000233800.
HOVERGENiHBG059956.
InParanoidiQ9H4I0.
OMAiGMQSFSL.
OrthoDBiEOG7B31N3.
PhylomeDBiQ9H4I0.
TreeFamiTF101215.

Family and domain databases

Gene3Di1.10.10.580. 1 hit.
InterProiIPR023093. Rad21/Rec8_C.
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
[Graphical view]
PfamiPF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4I0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFYTHVLMSK RGPLAKIWLA AHWEKKLTKA HVFECNLEIT IEKILSPKVK
60 70 80 90 100
IALRTSGHLL LGVVRIYNRK AKYLLADCSE AFLKMKMTFC PGLVDLPKEN
110 120 130 140 150
FEASYNAITL PEEFHDFDTQ NMNAIDVSEH FTQNQSRPEE ITLRENFDND
160 170 180 190 200
LIFQAESFGE ESEILRRHSF FDDNILLNSS GPLIEHSSGS LTGERSLFYD
210 220 230 240 250
SGDGFGDEGA AGEMIDNLLQ DDQNILLEDM HLNREISLPS EPPNSLAVEP
260 270 280 290 300
DNSECICVPE NEKMNETILL STEEEGFTLD PIDISDIAEK RKGKKRRLLI
310 320 330 340 350
DPIKELSSKV IHKQLTSFAD TLMVLELAPP TQRLMMWKKR GGVHTLLSTA
360 370 380 390 400
AQDLIHAELK MLFTKCFLSS GFKLGRKMIQ KESVREEVGN QNIVETSMMQ
410 420 430 440 450
EPNYQQELSK PQTWKDVIGG SQHSSHEDTN KNINSEQDIV EMVSLAAEES
460 470 480 490 500
SLMNDLFAQE IEYSPVELES LSNEENIETE RWNGRILQML NRLRESNKMG
510 520 530 540 550
MQSFSLMKLC RNSDRKQAAA KFYSFLVLKK QLAIELSQSA PYADIIATMG

PMFYNI
Note: No experimental confirmation available.
Length:556
Mass (Da):63,324
Last modified:September 22, 2009 - v3
Checksum:i613CEE9BAF8DBE74
GO
Isoform 2 (identifier: Q9H4I0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-468: Missing.
     495-556: ESNKMGMQSF...ATMGPMFYNI → VADQGQAAAA...QPHGHVPARK

Note: No experimental confirmation available.
Show »
Length:521
Mass (Da):58,839
Checksum:i6566706CD31AC3E1
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti525 – 5251F → L in AAI71911 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901C → R.1 Publication
Corresponds to variant rs450739 [ dbSNP | Ensembl ].
VAR_064917
Natural varianti152 – 1521I → L.1 Publication
Corresponds to variant rs203534 [ dbSNP | Ensembl ].
VAR_064918
Natural varianti423 – 4231H → P.
Corresponds to variant rs17717241 [ dbSNP | Ensembl ].
VAR_064919

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei437 – 46832Missing in isoform 2. CuratedVSP_038157Add
BLAST
Alternative sequencei495 – 55662ESNKM…MFYNI → VADQGQAAAAATAEALRQAG PEWCEPAGLRRASGLSPRDT AHPTPYSDPQPHGHVPARK in isoform 2. CuratedVSP_038158Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031665, AL136531 Genomic DNA. Translation: CAC10381.3.
AL136531, AL031665 Genomic DNA. Translation: CAO03527.1.
AL031665 Genomic DNA. Translation: CAX15025.1.
BC157891 mRNA. Translation: AAI57892.1.
BC171911 mRNA. Translation: AAI71911.1.
CCDSiCCDS46568.1. [Q9H4I0-1]
RefSeqiNP_001130038.2. NM_001136566.2. [Q9H4I0-1]
XP_006723668.1. XM_006723605.2. [Q9H4I0-1]
UniGeneiHs.713451.

Genome annotation databases

EnsembliENST00000402452; ENSP00000385925; ENSG00000244588. [Q9H4I0-2]
ENST00000409241; ENSP00000386414; ENSG00000244588.
GeneIDi642636.
KEGGihsa:642636.
UCSCiuc010gab.1. human. [Q9H4I0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL031665, AL136531 Genomic DNA. Translation: CAC10381.3.
AL136531, AL031665 Genomic DNA. Translation: CAO03527.1.
AL031665 Genomic DNA. Translation: CAX15025.1.
BC157891 mRNA. Translation: AAI57892.1.
BC171911 mRNA. Translation: AAI71911.1.
CCDSiCCDS46568.1. [Q9H4I0-1]
RefSeqiNP_001130038.2. NM_001136566.2. [Q9H4I0-1]
XP_006723668.1. XM_006723605.2. [Q9H4I0-1]
UniGeneiHs.713451.

3D structure databases

ProteinModelPortaliQ9H4I0.
SMRiQ9H4I0. Positions 18-87, 295-367.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000386414.

PTM databases

PhosphoSiteiQ9H4I0.

Polymorphism and mutation databases

BioMutaiRAD21L1.
DMDMi259016327.

Proteomic databases

PaxDbiQ9H4I0.
PRIDEiQ9H4I0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000402452; ENSP00000385925; ENSG00000244588. [Q9H4I0-2]
ENST00000409241; ENSP00000386414; ENSG00000244588.
GeneIDi642636.
KEGGihsa:642636.
UCSCiuc010gab.1. human. [Q9H4I0-1]

Organism-specific databases

CTDi642636.
GeneCardsiGC20P001206.
HGNCiHGNC:16271. RAD21L1.
HPAiHPA053282.
neXtProtiNX_Q9H4I0.
PharmGKBiPA34171.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG301899.
GeneTreeiENSGT00390000011606.
HOGENOMiHOG000233800.
HOVERGENiHBG059956.
InParanoidiQ9H4I0.
OMAiGMQSFSL.
OrthoDBiEOG7B31N3.
PhylomeDBiQ9H4I0.
TreeFamiTF101215.

Miscellaneous databases

ChiTaRSiRAD21L1. human.
GenomeRNAii642636.
NextBioi114018.
PROiQ9H4I0.

Gene expression databases

BgeeiQ9H4I0.
GenevisibleiQ9H4I0. HS.

Family and domain databases

Gene3Di1.10.10.580. 1 hit.
InterProiIPR023093. Rad21/Rec8_C.
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
[Graphical view]
PfamiPF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ARG-90 AND LEU-152.

Entry informationi

Entry nameiRD21L_HUMAN
AccessioniPrimary (citable) accession number: Q9H4I0
Secondary accession number(s): B2RXL0
, B7ZBB1, B7ZW76, Q5W0X5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 22, 2009
Last modified: July 22, 2015
This is version 80 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.