Rabbit anti-Human CEP43 Monoclonal Antibody

Uniprot Id

O95684

Target Species

Human

Target Name

CEP43

Target Full Name

Centrosomal protein 43

Target Function

Required for anchoring microtubules to the centrosomes. Required for ciliation.

Target Involvement

A chromosomal aberration involving FGFR1OP may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(6;8)(q27;p11) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion proteins FGFR1OP-FGFR1 or FGFR1-FGFR1OP may exhibit constitutive kinase activity and be responsible for the transforming activity (PubMed:9949182).

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.

Target Protein Families

FGFR1OP family

Target Tissue Specificity

Ubiquitous. Highly expressed in heart, liver, muscle, kidney, intestine, colon, adrenal gland, prostate, testis, and pancreas.

Target Synonyms

FGFR1 oncogene partner; FGFR1OP; Fibroblast growth factor receptor 1 oncogene partner; FOP; FR1OP_HUMAN; OTTHUMP00000017612; OTTHUMP00000017613

Target Background

This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified.