CAPZB (capping actin protein of muscle Z-line subunit beta)

2003-05-01  

Identity

HGNC
LOCATION
1p36.13
LOCUSID
ALIAS
CAPB,CAPPB,CAPZ
FUSION GENES

Other Information

Locus ID:

NCBI: 832
MIM: 601572
HGNC: 1491
Ensembl: ENSG00000077549

Variants:

dbSNP: 832
ClinVar: 832
TCGA: ENSG00000077549
COSMIC: CAPZB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000077549ENST00000264202P47756
ENSG00000077549ENST00000264202A0A384MR50
ENSG00000077549ENST00000264203B1AK85
ENSG00000077549ENST00000375142P47756
ENSG00000077549ENST00000375144B1AK87
ENSG00000077549ENST00000433834B1AK88

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
335640742021Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZβ.14
347968742021Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.7
335640742021Vacuolin-1 inhibits endosomal trafficking and metastasis via CapZβ.14
347968742021Capping protein regulates endosomal trafficking by controlling F-actin density around endocytic vesicles and recruiting RAB5 effectors.7
321707302020A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.4
321707302020A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis.4
281046962017Systematic characterization of human testis-specific actin capping protein β3 as a possible biomarker for male infertility.6
287276282017Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a Genetics of Diabetes Audit and Research Tayside study (GoDARTS).5
288038712017An RNAi Screen in a Novel Model of Oriented Divisions Identifies the Actin-Capping Protein Z β as an Essential Regulator of Spindle Orientation.11
281046962017Systematic characterization of human testis-specific actin capping protein β3 as a possible biomarker for male infertility.6
287276282017Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a Genetics of Diabetes Audit and Research Tayside study (GoDARTS).5
288038712017An RNAi Screen in a Novel Model of Oriented Divisions Identifies the Actin-Capping Protein Z β as an Essential Regulator of Spindle Orientation.11
267588712016Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.21
269650492016Expression of F-actin-capping protein subunit beta, CAPZB, is associated with cell growth and motility in epithelioid sarcoma.10
267588712016Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.21

Citation

Dessen P

CAPZB (capping actin protein of muscle Z-line subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/911/gene-explorer/css/lib/js/web-card-gene.js