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Q9H4I0

- RD21L_HUMAN

UniProt

Q9H4I0 - RD21L_HUMAN

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Protein

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

Gene

RAD21L1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. attachment of telomeric heterochromatin to nuclear envelope Source: Ensembl
  2. chromosome segregation Source: UniProtKB-KW
  3. double-strand break repair via homologous recombination Source: Ensembl
  4. fertilization Source: Ensembl
  5. linear element assembly Source: Ensembl
  6. seminiferous tubule development Source: Ensembl
  7. spermatogenesis Source: Ensembl
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: 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

  1. chromosome Source: UniProtKB
  2. lateral element Source: Ensembl
  3. meiotic cohesin complex Source: UniProtKB
  4. nuclear meiotic cohesin complex Source: Ensembl
  5. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34171.

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.
GenevestigatoriQ9H4I0.

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

BioGridi568137. 1 interaction.
STRINGi9606.ENSP00000386414.

Structurei

3D structure databases

ProteinModelPortaliQ9H4I0.
SMRiQ9H4I0. Positions 295-367.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the rad21 family.Curated

Phylogenomic databases

eggNOGiNOG301899.
GeneTreeiENSGT00390000011606.
HOGENOMiHOG000233800.
HOVERGENiHBG059956.
InParanoidiQ9H4I0.
OMAiPEWCEPA.
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. Align

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_006723605.1. [Q9H4I0-1]
UniGeneiHs.713451.

Genome annotation databases

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

Polymorphism databases

DMDMi259016327.

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 .
CCDSi CCDS46568.1. [Q9H4I0-1 ]
RefSeqi NP_001130038.2. NM_001136566.2. [Q9H4I0-1 ]
XP_006723668.1. XM_006723605.1. [Q9H4I0-1 ]
UniGenei Hs.713451.

3D structure databases

ProteinModelPortali Q9H4I0.
SMRi Q9H4I0. Positions 295-367.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 568137. 1 interaction.
STRINGi 9606.ENSP00000386414.

PTM databases

PhosphoSitei Q9H4I0.

Polymorphism databases

DMDMi 259016327.

Proteomic databases

PaxDbi Q9H4I0.
PRIDEi Q9H4I0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000402452 ; ENSP00000385925 ; ENSG00000244588 . [Q9H4I0-2 ]
ENST00000409241 ; ENSP00000386414 ; ENSG00000244588 . [Q9H4I0-1 ]
GeneIDi 642636.
KEGGi hsa:642636.
UCSCi uc010gab.1. human. [Q9H4I0-1 ]

Organism-specific databases

CTDi 642636.
GeneCardsi GC20P001206.
HGNCi HGNC:16271. RAD21L1.
HPAi HPA053282.
neXtProti NX_Q9H4I0.
PharmGKBi PA34171.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG301899.
GeneTreei ENSGT00390000011606.
HOGENOMi HOG000233800.
HOVERGENi HBG059956.
InParanoidi Q9H4I0.
OMAi PEWCEPA.
OrthoDBi EOG7B31N3.
PhylomeDBi Q9H4I0.
TreeFami TF101215.

Miscellaneous databases

ChiTaRSi RAD21L1. human.
GenomeRNAii 642636.
NextBioi 114018.
PROi Q9H4I0.

Gene expression databases

Bgeei Q9H4I0.
Genevestigatori Q9H4I0.

Family and domain databases

Gene3Di 1.10.10.580. 1 hit.
InterProi IPR023093. Rad21/Rec8_C.
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
[Graphical view ]
Pfami PF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: November 26, 2014
This is version 75 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