• Gene id: 92241

Gene Summary

• Gene Symbol: RCSD1   Gene   UCSC   Ensembl
• Aliases: CAPZIP, MK2S4
• Gene name: RCSD domain containing 1
• Alternate names: capZ-interacting protein, RCSD domain-containing protein 1, protein kinase substrate CapZIP, protein kinase substrate MK2S4,
• Gene location: 1q24.2 (57693117: 57625453)     Exons: 22     NC_000003.12
• OMIM: 610579

Protein Summary

• Protein general information: Q6JBY9  
  • Name: CapZ interacting protein (Protein kinase substrate CapZIP) (RCSD domain containing protein 1)
  • Length: 416  
  • Mass: 44504
  • Tissue specificity: Highly expressed in skeletal muscle and more weakly in cardiac muscle. Also expressed in several lymphoid organs, including spleen, thymus, peripheral blood leukocytes, lymph node and bone marrow. {ECO
• Sequence:

  MEERPAETNANVDNSASPSVAQLAGRFREQAAAAKETPASKPTRRKPPCSLPLFPPKVDLGQNGEEKSPPNASHP
  PKFKVKSSPLIEKLQANLTFDPAALLPGASPKSPGLKAMVSPFHSPPSTPSSPGVRSRPSEAEEVPVSFDQPPEG
  SHLPCYNKVRTRGSIKRRPPSRRFRRSQSDCGELGDFRAVESSQQNGAKEEDGDEVLPSKSKAPGSPLSSEGAAG
  EGVRTLGPAEKPPLRRSPSRTEKQEEDRATEEAKNGEKARRSSEEVDGQHPAQEEVPESPQTSGPEAENRCGSPR
  EEKPAGEEAEMEKATEVKGERVQNEEVGPEHDSQETKKLEEGAAVKETPHSPPGGVKGGDVPKQEKGKEKQQEGA
  VLEPGCSPQTGPAQLETSSEVQSEPAVPKPEDDTPVQDTKM

• Structural information:
  • Protein Domains: (227..33-)
    (/note="RCSD"-)
  • Interpro: IPR029341  IPR007850  
  • STRING: ENSP00000356828
• Other Databases: GeneCards:  RCSD1  Malacards:  RCSD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IPI	molecular function
GO:0051015	actin filament binding	IPI	molecular function
GO:0071474	cellular hyperosmotic response	IDA	biological process
GO:0005884	actin filament	IC	cellular component
GO:0003009	skeletal muscle contraction	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq