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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: 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 - Molecular functioni

GO - Biological processi

Keywordsi

Biological processChromosome 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
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000244588.5.
HGNCiHGNC:16271. RAD21L1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000244588.
PharmGKBiPA34171.

Polymorphism and mutation databases

BioMutaiRAD21L1.
DMDMi259016327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003219211 – 556Double-strand-break repair protein rad21-like protein 1Add BLAST556

Proteomic databases

MaxQBiQ9H4I0.
PaxDbiQ9H4I0.
PeptideAtlasiQ9H4I0.
PRIDEiQ9H4I0.

PTM databases

iPTMnetiQ9H4I0.
PhosphoSitePlusiQ9H4I0.

Expressioni

Gene expression databases

BgeeiENSG00000244588.
ExpressionAtlasiQ9H4I0. baseline and differential.
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

BioGridi568137. 1 interactor.
STRINGi9606.ENSP00000386414.

Structurei

3D structure databases

ProteinModelPortaliQ9H4I0.
SMRiQ9H4I0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the rad21 family.Curated

Phylogenomic databases

eggNOGiKOG1213. Eukaryota.
ENOG410XRB4. LUCA.
GeneTreeiENSGT00390000011606.
HOGENOMiHOG000233800.
HOVERGENiHBG059956.
InParanoidiQ9H4I0.
OMAiESNKMGM.
OrthoDBiEOG091G03QW.
PhylomeDBiQ9H4I0.
TreeFamiTF101215.

Family and domain databases

InterProiView protein in InterPro
IPR006909. Rad21/Rec8_C_eu.
IPR006910. Rad21_Rec8_N.
IPR011991. WHTH_DNA-bd_dom.
PfamiView protein in Pfam
PF04824. Rad21_Rec8. 1 hit.
PF04825. Rad21_Rec8_N. 1 hit.
SUPFAMiSSF46785. SSF46785. 1 hit.

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)DescriptionActionsGraphical viewLength
Sequence conflicti525F → L in AAI71911 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06491790C → R1 PublicationCorresponds to variant dbSNP:rs450739Ensembl.1
Natural variantiVAR_064918152I → L1 PublicationCorresponds to variant dbSNP:rs203534Ensembl.1
Natural variantiVAR_064919423H → P. Corresponds to variant dbSNP:rs17717241Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038157437 – 468Missing in isoform 2. CuratedAdd BLAST32
Alternative sequenceiVSP_038158495 – 556ESNKM…MFYNI → VADQGQAAAAATAEALRQAG PEWCEPAGLRRASGLSPRDT AHPTPYSDPQPHGHVPARK in isoform 2. CuratedAdd BLAST62

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_006723605.3. [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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRD21L_HUMAN
AccessioniPrimary (citable) accession number: Q9H4I0
Secondary accession number(s): B2RXL0
, B7ZBB1, B7ZW76, Q5W0X5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 22, 2009
Last modified: September 27, 2017
This is version 100 of the entry and version 3 of the sequence. See 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