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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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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

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