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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBL1Y Gene

protein-coding   GIFtS: 51
GCID: GC0YP006778

transducin (beta)-like 1, Y-linked

 Explore 4 diseases affiliated with
TBL1Y via our new
 Human Malady Compendium 
Biological research products
for TBL1Y
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transducin (Beta)-Like 1, Y-Linked1 2
TBL11 2 3
Transducin Beta-Like Protein 1Y2 3
Transducin-Beta-Like Protein 1, Y-Linked2 3
F-Box-Like/WD Repeat-Containing Protein TBL1Y2
Transducin Beta-Like 12

External Ids:    HGNC: 185021   Entrez Gene: 906652   Ensembl: ENSG000000923777   OMIM: 4000335   UniProtKB: Q9BQ873   

Export aliases for TBL1Y gene to outside databases

Previous GC identifers: GC0YP006744 GC0YP006482 GC0YP006483 GC0YP006822 GC0YP004338


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBL1Y:
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The
WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40
repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA
processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of
cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but
the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced
transcript variants encoding the same protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TBL1Y_HUMAN, Q9BQ87
Function: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear
receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear
receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S
proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby
allowing cofactor exchange (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000024.9  NT_011896.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBL1Y gene promoter:
         TBP   USF1   Pax-5   CUTL1   Nkx2-5   LCR-F1   E4BP4   MZF-1   TFIID   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBL1Y promoter sequence
   Search SABiosciences Chromatin IP Primers for TBL1Y

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBL1Y


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Yp11.2   Ensembl cytogenetic band:  Yp11.2   HGNC cytogenetic band: Yp11.2

TBL1Y Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBL1Y gene location

GeneLoc information about chromosome Y         GeneLoc Exon Structure

GeneLoc location for GC0YP006778:  view genomic region     (about GC identifiers)

Start:
6,778,727 bp from pter      End:
6,959,977 bp from pter
Size:
181,251 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBL1Y_HUMAN, Q9BQ87 (See protein sequence)
Recommended Name: F-box-like/WD repeat-containing protein TBL1Y  
Size: 522 amino acids; 56688 Da
Subunit: Probable component of the N-Cor repressor complex and some E3 ubiquitin ligase complex (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: A1L4B3

Explore the universe of human proteins at neXtProt for TBL1Y: NX_Q9BQ87

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BQ87

  • TBL1Y Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_150600.1  NP_599020.1  NP_599021.1  

    ENSEMBL proteins: 
     ENSP00000372499   ENSP00000347289   ENSP00000328879   ENSP00000437721  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005667transcription factor complex ----


    TBL1Y for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TBL1Y for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR013720 LisH_dimerisation_subgr
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q9BQ87

    ProtoNet protein and cluster: Q9BQ87

    1 Blocks protein family: IPB006594 Lissencephaly type-1-like homology motif

    UniProtKB/Swiss-Prot: TBL1Y_HUMAN, Q9BQ87
    Domain: The F-box-like domain is related to the F-box domain, and apparently displays the same function as component of
    ubiquitin E3 ligase complexes (By similarity)
    Similarity: Belongs to the WD repeat EBI family
    Similarity: Contains 1 F-box-like domain
    Similarity: Contains 1 LisH domain
    Similarity: Contains 8 WD repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TBL1Y_HUMAN, Q9BQ87
    Function: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear
    receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear
    receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S
    proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby
    allowing cofactor exchange (By similarity)

    miRNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding ----
    GO:0003714transcription corepressor activity ----
    GO:0044212transcription regulatory region DNA binding ----


    TBL1Y for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for TBL1Y:
     Decreased viability with pacli  Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    Wnt signaling pathway0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for TBL1Y):
        Wnt signaling pathway


    TBL1Y for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBL1Y

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for TBL1Y (Q9BQ873 ENSP000003288794) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAB2Q9NYJ83I2D: score=1 
    APCENSP000002574304STRING: ENSP00000257430
    APC2ENSP000002336074STRING: ENSP00000233607
    CTNNB1ENSP000003444564STRING: ENSP00000344456
    SMARCB1ENSP000002631214STRING: ENSP00000263121
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process ----
    GO:0043627response to estrogen stimulus ----
    GO:0045444fat cell differentiation ----


    TBL1Y for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBL1Y
    Search CenterWatch for drugs/clinical trials and news about TBL1Y 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBL1Y gene (3 alternative transcripts): 
    NM_033284.1  NM_134258.1  NM_134259.1  

    Unigene Cluster for TBL1Y:

    Transducin (beta)-like 1, Y-linked
    Hs.664560  [show with all ESTs]
    Unigene Representative Sequence: AK298210
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000383032(uc004frb.3) ENST00000355162(uc004frc.3) ENST00000346432(uc004frd.3)
    ENST00000540077(uc011nap.2)

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBL1Y
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    Additional cDNA sequence: 

    AF332220.1 AF332221.1 AF332222.1 AK298210.1 BC130471.1 BC130473.1 

    7 DOTS entries:

    DT.97846704  DT.97846706  DT.97846705  DT.102834496  DT.102845423  DT.421601  DT.95142272 

    21 AceView cDNA sequences:

    AF332221 NM_033284 AF332220 NM_134258 NM_134259 AF332222 CO247621 CO249000 
    AK056903 CO246297 CO245684 CO246469 CO245808 CO245876 CO246355 CO245555 
    CO245717 CO249720 CO247757 CO247684 CO246218 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBL1Y expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGTTGCAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TBL1Y Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBL1Y

    SOURCE GeneReport for Unigene cluster: Hs.664560

    UniProtKB/Swiss-Prot: TBL1Y_HUMAN, Q9BQ87
    Tissue specificity: Fetal brain and prostate

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBL1Y gene from 5/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TBL1X6
    Uncharacterized protein
    92(a)
    1 → many
    1(129009396-129109929)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    90(a)
    1 → many
    3(118514453-118546364)
    fruit fly
    (Drosophila melanogaster)
    Insecta ebi3 regulation of cell cycle GTP binding 73(a)   21C4   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HOS156
    WD-40 repeat family protein
    43(a)
    1 → many
    5(26857154-26861119)
    rice
    (Oryza sativa)
    Liliopsida --
    F-box-like/WD repeat-containing protein TBL1XR1-A,...
    48(a)
    1 → many
    7(12423067-12439493)


    ENSEMBL Gene Tree for TBL1Y (if available)
    TreeFam Gene Tree for TBL1Y (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBL1Y gene
    THOC32  TBL1XR12  TBL1X2  
    9 SIMAP similar genes for TBL1Y using alignment to 2 protein entries:     TBL1Y_HUMAN (see all proteins):
    TBL1X    TBL1XR1    THOC3    WSB1    PF20    WDR83
    GNB5    GNB2L1    PLRG1

    TBL1Y for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for TBL1Y
    PGOHUM00000234006


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/406 NCBI SNPs in TBL1Y are shown (see all 406    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr Y posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38600331,2
    C--6781398(+) AGGCTC/TGGTTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs759854871,2
    F--6790505(+) GCACAG/CAGTGC 3 -- int12Minor allele frequency- C:0.50NA 6
    rs778799631,2
    C--6790587(-) GCTGTG/CTGTCT 3 -- int12Minor allele frequency- C:0.25NA 4
    rs97864371,2
    C--6792400(+) tgaggC/Tgggcg 3 -- int11Minor allele frequency- T:0.00NA 2
    rs133052431,2
    C--6796065(+) GACTCA/CCCGCC 3 -- int10--------
    rs117992001,2
    C,A,H--6801186(+) TCTGCC/TTGCCT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs117991801,2
    C,A,H--6801187(+) ctgccC/Tgcctt 3 -- int10--------
    rs117992011,2
    C,A,H--6801198(+) ggcctC/Tccaaa 3 -- int10--------
    rs117990971,2
    C,A,H--6801204(+) ccaaaA/Gtactg 3 -- int11Minor allele frequency- G:0.00NA 2
    rs117990981,2
    C,A,H--6801206(+) aaaatA/Gctggg 3 -- int11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for TBL1Y (6778727 - 6959977 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TBL1Y: --
    Human Gene Mutation Database (HGMD): TBL1Y

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBL1Y
    DNA2.0 Custom Variant and Variant Library Synthesis for TBL1Y

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBL1Y for disorders           About GeneDecksing

    OMIM gene information: 400033    OMIM disorders: --

    4 diseases for TBL1Y:    About MalaCards
    lissencephaly    thyroiditis    leukemia    prostatitis

    1 Novoseek disease relationship for TBL1Y gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    deafness sensorineural 74.9 4 15834507 (2), 10809664 (1)

    Human Genome Epidemiology (HuGE) Navigator: TBL1Y (2 documents)

    Export disorders for TBL1Y gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBL1Y gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with TBL1Y)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)1, 2 Skaletsky H.... Page D.C. (2003)
    2. Association of Y chromosome haplotypes with autism. (PubMed id 19605777)1, 9 Serajee F.J. and Mahbubul Huq A.H. (2009)
    3. Functional null mutations in the gonosomal homologue g ene TBL1Y are associated with non-syndromic coarctation of the aorta. (PubMed id 22280357)1 Tagariello A....Toka O. (2012)
    4. Transducin I^-like protein 1 recruits nuclear factor I_B to the target gene promoter for transcriptional activation. (PubMed id 21189284)1 Ramadoss S....Wang C.Y. (2011)
    5. Genetic variants of y chromosome are associated with a protective lipid profile in black men. (PubMed id 18511697)1 Russo P....Cappuccio F.P. (2008)
    6. Sex differences in structure and expression of the sex chromosome genes CHD1Z and CHD1W in zebra finches. (PubMed id 14660691)1 Agate R.J....Arnold A.P. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    10. Molecular analysis of TBL1Y, a Y-linked homologue of TBL1X related with X-linked late-onset sensorineural deafness. (PubMed id 15834507)9 Yan H.T....Nakahori Y. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 90665 HGNC: 18502 AceView: TBL1Y Ensembl:ENSG00000092377 euGenes: HUgn90665
    ECgene: TBL1Y Kegg: 90665 H-InvDB: TBL1Y

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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