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    RAD21L1 RAD21 cohesin complex component like 1 [ Homo sapiens (human) ]

    Gene ID: 642636, updated on 11-Apr-2024

    Summary

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    Official Symbol
    RAD21L1provided by HGNC
    Official Full Name
    RAD21 cohesin complex component like 1provided by HGNC
    Primary source
    HGNC:HGNC:16271
    See related
    Ensembl:ENSG00000244588 MIM:619533; AllianceGenome:HGNC:16271
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAD21L; dJ545L17.2
    Summary
    Predicted to enable chromatin binding activity. Predicted to be involved in mitotic sister chromatid cohesion; replication-born double-strand break repair via sister chromatid exchange; and synaptonemal complex assembly. Predicted to act upstream of or within several processes, including double-strand break repair via homologous recombination; homologous chromosome segregation; and seminiferous tubule development. Predicted to be located in lateral element. Predicted to be part of nuclear meiotic cohesin complex and nuclear mitotic cohesin complex. Predicted to be active in synaptonemal complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 3.3) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20p13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1226044..1255876)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1273334..1303183)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1206688..1236520)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 74B Neighboring gene chromosome 20 open reading frame 202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17456 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12589 Neighboring gene MPRA-validated peak4117 silencer Neighboring gene syntaphilin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1275655-1276546 Neighboring gene FKBP1A-SDCBP2 readthrough (NMD candidate) Neighboring gene uncharacterized LOC124904856 Neighboring gene syndecan binding protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome. Minase G, et al. Hum Fertil (Camb), 2017 Sep. PMID 28635411
    2. Identification and molecular characterization of the mammalian α-kleisin RAD21L. Gutiérrez-Caballero C, et al. Cell Cycle, 2011 May 1. PMID 21527826
    3. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article
    4. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Baranzini SE, et al. Hum Mol Genet, 2009 Feb 15. PMID 19010793, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The association of three single-nucleotide polymorphisms with azoospermia, especially Sertoli cell-only syndrome, was studied in Japanese men.
      Title: Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome.
    2. RAD21L is identified as a novel cohesin complex subunit homologous to mammalian RAD21/REC8/alpha-kleisin subfamily.
      Title: Identification and molecular characterization of the mammalian α-kleisin RAD21L.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
    EBI GWAS Catalog
    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC198626

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in replication-born double-strand break repair via sister chromatid exchange IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of meiotic cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of meiotic cohesin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    double-strand-break repair protein rad21-like protein 1
    Names
    RAD21-like 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001136566.3 → NP_001130038.2  double-strand-break repair protein rad21-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001130038.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS46568.1
      UniProtKB/Swiss-Prot
      B2RXL0, B7ZBB1, B7ZW76, Q5W0X5, Q9H4I0
      Related
      ENSP00000386414.1, ENST00000409241.5
      Conserved Domains (2) summary
      pfam04824
      Location:502 → 553
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    2. NM_001384355.1 → NP_001371284.1  double-strand-break repair protein rad21-like protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL031665
      Consensus CDS
      CCDS92998.1
      UniProtKB/TrEMBL
      A0A804HJ87
      Related
      ENSP00000507397.1, ENST00000683101.1
      Conserved Domains (2) summary
      pfam04824
      Location:501 → 552
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N-terminus of Rad21 / Rec8 like protein

    3. NM_001384356.1 → NP_001371285.1  double-strand-break repair protein rad21-like protein 1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL031665
      Conserved Domains (1) summary
      pfam04824
      Location:343 → 394
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

    4. NM_001384357.1 → NP_001371286.1  double-strand-break repair protein rad21-like protein 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL031665
      Conserved Domains (1) summary
      pfam04824
      Location:289 → 340
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

    5. NM_001384358.1 → NP_001371287.1  double-strand-break repair protein rad21-like protein 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL031665
      Conserved Domains (1) summary
      pfam04824
      Location:288 → 339
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      1226044..1255876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723603.3 → XP_006723666.1  double-strand-break repair protein rad21-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006723666.1

      Conserved Domains (2) summary
      pfam04824
      Location:510 → 561
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    2. XM_047440371.1 → XP_047296327.1  double-strand-break repair protein rad21-like protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A804HJ87

    3. XM_006723602.3 → XP_006723665.1  double-strand-break repair protein rad21-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006723665.1

      Conserved Domains (2) summary
      pfam04824
      Location:510 → 561
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    4. XM_006723604.3 → XP_006723667.1  double-strand-break repair protein rad21-like protein 1 isoform X2

      Conserved Domains (2) summary
      pfam04824
      Location:509 → 560
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    5. XM_006723605.4 → XP_006723668.1  double-strand-break repair protein rad21-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006723668.1

      UniProtKB/Swiss-Prot
      B2RXL0, B7ZBB1, B7ZW76, Q5W0X5, Q9H4I0
      Conserved Domains (2) summary
      pfam04824
      Location:502 → 553
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    6. XM_011529317.3 → XP_011527619.1  double-strand-break repair protein rad21-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011527619.1

      Conserved Domains (2) summary
      pfam04824
      Location:510 → 561
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein
      pfam04825
      Location:1 → 100
      Rad21_Rec8_N; N terminus of Rad21 / Rec8 like protein

    7. XM_011529320.3 → XP_011527622.1  double-strand-break repair protein rad21-like protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011527622.1

      Conserved Domains (1) summary
      pfam04824
      Location:389 → 440
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

    8. XM_011529319.2 → XP_011527621.1  double-strand-break repair protein rad21-like protein 1 isoform X5

      See identical proteins and their annotated locations for XP_011527621.1

      Conserved Domains (1) summary
      pfam04824
      Location:389 → 440
      Rad21_Rec8; Conserved region of Rad21 / Rec8 like protein

    RNA

    1. XR_937124.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      1273334..1303183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323833.1 → XP_054179808.1  double-strand-break repair protein rad21-like protein 1 isoform X1

    2. XM_054323836.1 → XP_054179811.1  double-strand-break repair protein rad21-like protein 1 isoform X2

    3. XM_054323837.1 → XP_054179812.1  double-strand-break repair protein rad21-like protein 1 isoform X3

      UniProtKB/TrEMBL
      F6KSS9

    4. XM_054323834.1 → XP_054179809.1  double-strand-break repair protein rad21-like protein 1 isoform X1

    5. XM_054323838.1 → XP_054179813.1  double-strand-break repair protein rad21-like protein 1 isoform X4

    6. XM_054323835.1 → XP_054179810.1  double-strand-break repair protein rad21-like protein 1 isoform X1

    7. XM_054323840.1 → XP_054179815.1  double-strand-break repair protein rad21-like protein 1 isoform X5

    8. XM_054323839.1 → XP_054179814.1  double-strand-break repair protein rad21-like protein 1 isoform X5

    RNA

    1. XR_008485292.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4I0.3 GenPept UniProtKB/Swiss-Prot:Q9H4I0

    Gene LinkOut

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