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Q9H4I0

- RD21L_HUMAN

UniProt

Q9H4I0 - RD21L_HUMAN

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
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    • History
      Entry version 73 (01 Oct 2014)
      Sequence version 3 (22 Sep 2009)
      Previous versions | rss
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    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. meiotic prophase I Source: UniProtKB
    7. seminiferous tubule development Source: Ensembl
    8. spermatogenesis Source: Ensembl

    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. nucleus Source: UniProtKB

    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 484-554.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the rad21 family.Curated

    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

    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:
    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

    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:
    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 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: October 1, 2014
    This is version 73 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