Human Gene CAPZA3 (ENST00000317658.5_3) from GENCODE V45lift37
Description: Homo sapiens capping actin protein of muscle Z-line subunit alpha 3 (CAPZA3), mRNA. (from RefSeq NM_033328) RefSeq Summary (NM_033328): 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 postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000317658.5_3 Gencode Gene: ENSG00000177938.5_6 Transcript (Including UTRs) Position: hg19 chr12:18,891,053-18,892,122 Size: 1,070 Total Exon Count: 1 Strand: + Coding Region Position: hg19 chr12:18,891,203-18,892,102 Size: 900 Coding Exon Count: 1
ID:CAZA3_HUMAN DESCRIPTION: RecName: Full=F-actin-capping protein subunit alpha-3; AltName: Full=CapZ alpha-3; Short=CP-alpha-3; AltName: Full=Germ cell-specific protein 3; 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 proteins do not sever actin filaments. May play a role in the morphogenesis of spermatid (By similarity). SUBUNIT: Heterodimer of an alpha and a beta subunit (By similarity). Component of the WASH complex, composed of F-actin-capping protein subunit alpha (CAPZA1, CAPZA2 or CAPZA3), F-actin-capping protein subunit beta (CAPZB), WASH (WASHC1, WASH2P, WASH3P, WASH4P, WASH5P or WASH6P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. 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. SIMILARITY: Belongs to the F-actin-capping protein alpha subunit family.
Electrocardiography Daniel Levy et al. BMC medical genetics 2007, Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness., BMC medical genetics.
[PubMed 17903302]
These results of genome-wide association testing for blood pressure and arterial stiffness phenotypes in an unselected community-based sample of adults may aid in the identification of the genetic basis of hypertension and arterial disease, help identify high risk individuals, and guide novel therapies for hypertension. Additional studies are needed to replicate any associations identified in these analyses.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01267 - F-actin capping protein alpha subunit
ModBase Predicted Comparative 3D Structure on Q96KX2
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Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0006888 ER to Golgi vesicle-mediated transport GO:0007286 spermatid development GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0030036 actin cytoskeleton organization GO:0051016 barbed-end actin filament capping GO:0051693 actin filament capping
JF432140 - Synthetic construct Homo sapiens clone IMAGE:100073283 capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3) gene, encodes complete protein. BC016745 - Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3, mRNA (cDNA clone MGC:26617 IMAGE:4839348), complete cds. GQ472212 - Homo sapiens epididymis secretory protein Li 86 (HEL-S-86) mRNA, complete cds. HM005696 - Homo sapiens clone HTL-T-73n testis tissue sperm-binding protein Li 73n mRNA, complete cds. JD329619 - Sequence 310643 from Patent EP1572962. AB053259 - Homo sapiens hgsg3 mRNA for male germ cell-specific actin capping protein alpha3, complete cds. AK058174 - Homo sapiens cDNA FLJ25445 fis, clone TST08542, highly similar to Mus musculus mRNA for gsg3. JD501476 - Sequence 482500 from Patent EP1572962. JD250615 - Sequence 231639 from Patent EP1572962. CU677705 - Synthetic construct Homo sapiens gateway clone IMAGE:100018753 5' read CAPZA3 mRNA.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q96KX2 (Reactome details) participates in the following event(s):
R-HSA-6809003 ERGIC-to-Golgi vesicles bind dynein:dynactin R-HSA-6809006 Vesicle is tethered through binding GOLGA2:GORASP1, GOLGB1 and the COG complex R-HSA-8849350 RAB6:GTP displaces PAFAH1B1 from dynein:dynactin complex R-HSA-2132295 MHC class II antigen presentation R-HSA-6807878 COPI-mediated anterograde transport R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic R-HSA-1280218 Adaptive Immune System R-HSA-199977 ER to Golgi Anterograde Transport R-HSA-8856688 Golgi-to-ER retrograde transport R-HSA-168256 Immune System R-HSA-199991 Membrane Trafficking R-HSA-948021 Transport to the Golgi and subsequent modification R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-5653656 Vesicle-mediated transport R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
