RAD21L1 (RAD21 cohesin complex component like 1)

Gene

• Entrez ID: 642636
• Gene name: RAD21 cohesin complex component like 1
• Gene symbol: RAD21L1
• Synonyms (NCBI Gene): RAD21L, dJ545L17.2
• Chromosome: 20
• Chromosome location: 20p13

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003682	Function	Chromatin binding	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0007059	Process	Chromosome segregation	IEA
GO:0007062	Process	Sister chromatid cohesion	IBA
GO:0007062	Process	Sister chromatid cohesion	IEA
GO:0008278	Component	Cohesin complex	IEA
GO:0030893	Component	Meiotic cohesin complex	IBA
GO:0030893	Component	Meiotic cohesin complex	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:1990414	Process	Replication-born double-strand break repair via sister chromatid exchange	IBA

Other IDs

• MIM: 619533
• HGNC: 16271
• e!Ensembl: ENSG00000244588

Protein

• UniProt ID: Q9H4I0
• Protein name: Double-strand-break repair protein rad21-like protein 1
• Protein function: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04825	Rad21_Rec8_N	1 → 106	N terminus of Rad21 / Rec8 like protein	Family
  PF04824	Rad21_Rec8	500 → 553	Conserved region of Rad21 / Rec8 like protein	Family

• Sequence:

  MFYTHVLMSKRGPLAKIWLAAHWEKKLTKAHVFECNLEITIEKILSPKVKIALRTSGHLL
  LGVVRIYNRKAKYLLADCSEAFLKMKMTFCPGLVDLPKENFEASYNAITLPEEFHDFDTQ
  NMNAIDVSEHFTQNQSRPEEITLRENFDNDLIFQAESFGEESEILRRHSFFDDNILLNSS
  GPLIEHSSGSLTGERSLFYDSGDGFGDEGAAGEMIDNLLQDDQNILLEDMHLNREISLPS
  EPPNSLAVEPDNSECICVPENEKMNETILLSTEEEGFTLDPIDISDIAEKRKGKKRRLLI
  DPIKELSSKVIHKQLTSFADTLMVLELAPPTQRLMMWKKRGGVHTLLSTAAQDLIHAELK
  MLFTKCFLSSGFKLGRKMIQKESVREEVGNQNIVETSMMQEPNYQQELSKPQTWKDVIGG
  SQHSSHEDTNKNINSEQDIVEMVSLAAEESSLMNDLFAQEIEYSPVELESLSNEENIETE
  RWNGRILQMLNRLRESNKMGMQSFSLMKLCRNSDRKQAAAKFYSFLVLKKQLAIELSQSA
  PYADIIATMGPMFYNI

• Sequence length: 556

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Non-obstructive azoospermia	Pathogenic	rs1161340148	RCV001648495	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOIMMUNE THROMBOCYTOPENIC PURPURA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneuploidy	Aneuploidy	Pubtator	36179046	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	28635411		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	28635411	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	28635411	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25526461	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations