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Q9H4I0 (RD21L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Double-strand-break repair protein rad21-like protein 1
Gene names
Name:RAD21L1
Synonyms:RAD21L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length556 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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.

Subcellular location

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.

Sequence similarities

Belongs to the rad21 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H4I0-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q9H4I0-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 556556Double-strand-break repair protein rad21-like protein 1
PRO_0000321921

Natural variations

Alternative sequence437 – 46832Missing in isoform 2.
VSP_038157
Alternative sequence495 – 55662ESNKM…MFYNI → VADQGQAAAAATAEALRQAG PEWCEPAGLRRASGLSPRDT AHPTPYSDPQPHGHVPARK in isoform 2.
VSP_038158
Natural variant901C → R. Ref.2
Corresponds to variant rs450739 [ dbSNP | Ensembl ].
VAR_064917
Natural variant1521I → L. Ref.2
Corresponds to variant rs203534 [ dbSNP | Ensembl ].
VAR_064918
Natural variant4231H → P.
Corresponds to variant rs17717241 [ dbSNP | Ensembl ].
VAR_064919

Experimental info

Sequence conflict5251F → L in AAI71911. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 22, 2009. Version 3.
Checksum: 613CEE9BAF8DBE74

FASTA55663,324
        10         20         30         40         50         60 
MFYTHVLMSK RGPLAKIWLA AHWEKKLTKA HVFECNLEIT IEKILSPKVK IALRTSGHLL 

        70         80         90        100        110        120 
LGVVRIYNRK AKYLLADCSE AFLKMKMTFC PGLVDLPKEN FEASYNAITL PEEFHDFDTQ 

       130        140        150        160        170        180 
NMNAIDVSEH FTQNQSRPEE ITLRENFDND LIFQAESFGE ESEILRRHSF FDDNILLNSS 

       190        200        210        220        230        240 
GPLIEHSSGS LTGERSLFYD SGDGFGDEGA AGEMIDNLLQ DDQNILLEDM HLNREISLPS 

       250        260        270        280        290        300 
EPPNSLAVEP DNSECICVPE NEKMNETILL STEEEGFTLD PIDISDIAEK RKGKKRRLLI 

       310        320        330        340        350        360 
DPIKELSSKV IHKQLTSFAD TLMVLELAPP TQRLMMWKKR GGVHTLLSTA AQDLIHAELK 

       370        380        390        400        410        420 
MLFTKCFLSS GFKLGRKMIQ KESVREEVGN QNIVETSMMQ EPNYQQELSK PQTWKDVIGG 

       430        440        450        460        470        480 
SQHSSHEDTN KNINSEQDIV EMVSLAAEES SLMNDLFAQE IEYSPVELES LSNEENIETE 

       490        500        510        520        530        540 
RWNGRILQML NRLRESNKMG MQSFSLMKLC RNSDRKQAAA KFYSFLVLKK QLAIELSQSA 

       550 
PYADIIATMG PMFYNI 

« Hide

Isoform 2 [UniParc].

Checksum: 6566706CD31AC3E1
Show »

FASTA52158,839

References

[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS46568.1. [Q9H4I0-1]
RefSeqNP_001130038.2. NM_001136566.2. [Q9H4I0-1]
XP_006723668.1. XM_006723605.1. [Q9H4I0-1]
UniGeneHs.713451.

3D structure databases

ProteinModelPortalQ9H4I0.
SMRQ9H4I0. Positions 484-554.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid568137. 1 interaction.
STRING9606.ENSP00000386414.

PTM databases

PhosphoSiteQ9H4I0.

Polymorphism databases

DMDM259016327.

Proteomic databases

PaxDbQ9H4I0.
PRIDEQ9H4I0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381882; ENSP00000371306; ENSG00000244588. [Q9H4I0-2]
ENST00000402452; ENSP00000385925; ENSG00000244588. [Q9H4I0-2]
ENST00000409241; ENSP00000386414; ENSG00000244588. [Q9H4I0-1]
GeneID642636.
KEGGhsa:642636.
UCSCuc010gab.1. human. [Q9H4I0-1]

Organism-specific databases

CTD642636.
GeneCardsGC20P001206.
HGNCHGNC:16271. RAD21L1.
HPAHPA053282.
neXtProtNX_Q9H4I0.
PharmGKBPA34171.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG301899.
HOGENOMHOG000233800.
HOVERGENHBG059956.
OMAPEWCEPA.
OrthoDBEOG7B31N3.
PhylomeDBQ9H4I0.
TreeFamTF101215.

Gene expression databases

BgeeQ9H4I0.
GenevestigatorQ9H4I0.

Family and domain databases

Gene3D1.10.10.580. 1 hit.
InterProIPR023093. Rad21/Rec8_C.
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
[Graphical view]
PfamPF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio114018.
PROQ9H4I0.

Entry information

Entry nameRD21L_HUMAN
AccessionPrimary (citable) accession number: Q9H4I0
Secondary accession number(s): B2RXL0 expand/collapse secondary AC list , B7ZBB1, B7ZW76, Q5W0X5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 22, 2009
Last modified: July 9, 2014
This is version 72 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM