• Gene id: 829

Gene Summary

• Gene Symbol: CAPZA1   Gene   UCSC   Ensembl
• Aliases: CAPPA1, CAPZ, CAZ1
• Gene name: capping actin protein of muscle Z-line subunit alpha 1
• Alternate names: F-actin-capping protein subunit alpha-1, Cap Z, capZ alpha-1, capping actin protein of muscle Z-line alpha subunit 1, capping protein (actin filament) muscle Z-line, alpha 1,
• Gene location: 1p13.2 (153003438: 152987361)     Exons: 7     NC_000006.12
• Gene summary(Entrez): CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments.
• OMIM: 601580

SNPs

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

Protein Summary

• Protein general information: P52907  
  • Name: F actin capping protein subunit alpha 1 (CapZ alpha 1)
  • Length: 286  
  • Mass: 32923
• Sequence:

  MADFDDRVSDEEKVRIAAKFITHAPPGEFNEVFNDVRLLLNNDNLLREGAAHAFAQYNMDQFTPVKIEGYEDQVL
  ITEHGDLGNSRFLDPRNKISFKFDHLRKEASDPQPEEADGGLKSWRESCDSALRAYVKDHYSNGFCTVYAKTIDG
  QQTIIACIESHQFQPKNFWNGRWRSEWKFTITPPTAQVVGVLKIQVHYYEDGNVQLVSHKDVQDSLTVSNEAQTA
  KEFIKIIENAENEYQTAISENYQTMSDTTFKALRRQLPVTRTKIDWNKILSYKIGKEMQNA

• Structural information:
  • Interpro: IPR002189  IPR037282  IPR042276  IPR042489  IPR017865  
  • Prosite: PS00748 PS00749
  • PDB: 1MQ1 1MWN
  • PDBsum: 1MQ1 1MWN
  • STRING: ENSP00000263168
• Other Databases: GeneCards:  CAPZA1  Malacards:  CAPZA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008290	F-actin capping protein complex	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0051016	barbed-end actin filament capping	IBA	biological process
GO:0071203	WASH complex	IDA	cellular component
GO:0034329	cell junction assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008290	F-actin capping protein complex	IEA	cellular component
GO:0051016	barbed-end actin filament capping	IEA	biological process
GO:0051693	actin filament capping	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0065003	protein-containing complex assembly	TAS	biological process
GO:0008290	F-actin capping protein complex	TAS	cellular component
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005856	cytoskeleton	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)