background:
Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Function:
Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Subunit:
Binds EPN1. Interacts with ZBTB32 and CUL3.
Subcellular Location:
Nucleus.
Tissue Specificity:
Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.
DISEASE:
Defects in ZBTB16 are the cause of skeletal defects genital hypoplasia and mental retardation (SGYMR) [MIM:612447]. A disorder characterized by mental retardation, craniofacial dysmorphism, microcephaly and short stature. Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia.
Note=A chromosomal aberration involving ZBTB16 may be a cause of acute promyelocytic leukemia (APL). Translocation t(11;17)(q32;q21) with RARA.
Similarity:
Belongs to the krueppel C2H2-type zinc-finger protein family.
Contains 1 BTB (POZ) domain.
Contains 9 C2H2-type zinc fingers.
Database links:
Entrez Gene: 53881 Cow
Entrez Gene: 7704 Human
Entrez Gene: 23564 Mouse
Entrez Gene: 353227 Rat
Entrez Gene: 323269 Zebrafish
Omim: 176797 Human
SwissProt: Q05516 Human
SwissProt: Q802Y8 Zebrafish
Unigene: 591945 Human
Unigene: 682144 Human
Unigene: 457803 Mouse
Unigene: 214576 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
