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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, RAD21L
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.

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. meiotic prophase I Source: UniProtKB
  7. seminiferous tubule development Source: Ensembl
  8. 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.

GO - Cellular componenti

  1. chromosome Source: UniProtKB
  2. lateral element Source: Ensembl
  3. meiotic cohesin complex Source: UniProtKB
  4. 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 1
PRO_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 484-554.

Family & Domainsi

Sequence similaritiesi

Belongs to the rad21 family.

Phylogenomic databases

eggNOGiNOG301899.
HOGENOMiHOG000233800.
HOVERGENiHBG059956.
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

MFYTHVLMSK RGPLAKIWLA AHWEKKLTKA HVFECNLEIT IEKILSPKVK    50
IALRTSGHLL LGVVRIYNRK AKYLLADCSE AFLKMKMTFC PGLVDLPKEN 100
FEASYNAITL PEEFHDFDTQ NMNAIDVSEH FTQNQSRPEE ITLRENFDND 150
LIFQAESFGE ESEILRRHSF FDDNILLNSS GPLIEHSSGS LTGERSLFYD 200
SGDGFGDEGA AGEMIDNLLQ DDQNILLEDM HLNREISLPS EPPNSLAVEP 250
DNSECICVPE NEKMNETILL STEEEGFTLD PIDISDIAEK RKGKKRRLLI 300
DPIKELSSKV IHKQLTSFAD TLMVLELAPP TQRLMMWKKR GGVHTLLSTA 350
AQDLIHAELK MLFTKCFLSS GFKLGRKMIQ KESVREEVGN QNIVETSMMQ 400
EPNYQQELSK PQTWKDVIGG SQHSSHEDTN KNINSEQDIV EMVSLAAEES 450
SLMNDLFAQE IEYSPVELES LSNEENIETE RWNGRILQML NRLRESNKMG 500
MQSFSLMKLC RNSDRKQAAA KFYSFLVLKK QLAIELSQSA PYADIIATMG 550
PMFYNI 556

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

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.
VSP_038157Add
BLAST
Alternative sequencei495 – 55662ESNKM…MFYNI → VADQGQAAAAATAEALRQAG PEWCEPAGLRRASGLSPRDT AHPTPYSDPQPHGHVPARK in isoform 2.
VSP_038158Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti525 – 5251F → L in AAI71911. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000381882; ENSP00000371306; ENSG00000244588. [Q9H4I0-2]
ENST00000402452; 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:
EMBL
GenBank
DDBJ
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 484-554.
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 ENST00000381882 ; ENSP00000371306 ; ENSG00000244588 . [Q9H4I0-2 ]
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.
HOGENOMi HOG000233800.
HOVERGENi HBG059956.
OMAi PEWCEPA.
OrthoDBi EOG7B31N3.
PhylomeDBi Q9H4I0.
TreeFami TF101215.

Miscellaneous databases

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: July 9, 2014
This is version 72 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

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