CAPZA3 (capping actin protein of muscle Z-line subunit alpha 3)

Gene

• Entrez ID: 93661
• Gene name: Capping actin protein of muscle Z-line subunit alpha 3
• Gene symbol: CAPZA3
• Synonyms (NCBI Gene): CAPPA3, Gsg3, HEL-S-86
• Chromosome: 12
• Chromosome location: 12p12.3
• Summary: This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT739974	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007028	Process	Cytoplasm organization	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0008290	Component	F-actin capping protein complex	IBA
GO:0008290	Component	F-actin capping protein complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030863	Component	Cortical cytoskeleton	IBA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051016	Process	Barbed-end actin filament capping	IBA
GO:0051016	Process	Barbed-end actin filament capping	IEA
GO:0051693	Process	Actin filament capping	IEA
GO:0061827	Component	Sperm head	IEA

Other IDs

• MIM: 608722
• HGNC: 24205
• e!Ensembl: ENSG00000177938

Protein

• UniProt ID: Q96KX2
• Protein name: F-actin-capping protein subunit alpha-3 (CapZ alpha-3) (CP-alpha-3) (Germ cell-specific protein 3)
• Protein function: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these pr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01267	F-actin_cap_A	15 → 278	F-actin capping protein alpha subunit	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed exclusively in testis and sperm. Highest expression is found in the neck region of ejaculated sperm with lower levels found in the tail and postacrosome region. {ECO:0000269|PubMed:12029070}.
• Sequence:

  MTLSVLSRKDKERVIRRLLLQAPPGEFVNAFDDLCLLIRDEKLMHHQGECAGHQHCQKYS
  VPLCIDGNPVLLSHHNVMGDYRFFDHQSKLSFKYDLLQNQLKDIQSHGIIQNEAEYLRVV
  LLCALKLYVNDHYPKGNCNMLRKTVKSKEYLIACIEDHNYETGECWNGLWKSKWIFQVNP
  FLTQVTGRIFVQAHFFRCVNLHIEISKDLKESLEIVNQAQLALSFARLVEEQENKFQAAV
  LEELQELSNEALRKILRRDLPVTRTLIDWHRILSDLNLVMYPKLGYVIYSRSVLCNWII

• Sequence length: 299

Pathways

KEGG:

Endocytosis
Motor proteins
Cytoskeleton in muscle cells

Reactome:

MHC class II antigen presentation
HSP90 chaperone cycle for steroid hormone receptors (SHR)
COPI-mediated anterograde transport
COPI-independent Golgi-to-ER retrograde traffic

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHAGAS CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cryptorchidism	Cryptorchidism	Pubtator	38027210	Associate	★☆☆☆☆ Found in Text Mining only