其他名称: MID1; FXY; RNF59; TRIM18; XPRF; Midline-1; Midin; Midline 1 RING finger protein; Putative transcription factor XPRF; RING finger protein 59; Tripartite motif-containing protein 18
实测条带: 75kD
信号通路: Ubiquitin mediated proteolysis;
功能: disease:Defects in MID1 are the cause of Opitz syndrome type I (OS-I) [MIM:300000]. OS-I is an X-linked recessive disorder characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. OS-I mutations produce proteins with a decreased affinity for microtubules.,function:May have E3 ubiquitin ligase activity which targets the catalytic subunit of protein phosphatase 2 for degradation.,induction:A retroviral element acts as an alternative tissue-specific promoter for this gene. The LTR of an HERV-E element enhances the expression in placenta and embryonic kidney.,PTM:Phosphorylated on serine and threonine residues.,similarity:Belongs to the TRIM/RBCC family.,similarity:Contains 1 B30.2/SPRY domain.,similarity:Contains 1 COS domain.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 1 RING-type zinc finger.,similarity:Contains 2 B box-type zinc fingers.,subcellular location:Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis.,subunit:Homodimer or heterodimer with MID2. Interacts with IGBP1.,tissue specificity:In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cytoskeleton, spindle . Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis.
组织表达: In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.
其他名称: MID1; FXY; RNF59; TRIM18; XPRF; Midline-1; Midin; Midline 1 RING finger protein; Putative transcription factor XPRF; RING finger protein 59; Tripartite motif-containing protein 18
实测条带: 75kD
信号通路: Ubiquitin mediated proteolysis;
功能: disease:Defects in MID1 are the cause of Opitz syndrome type I (OS-I) [MIM:300000]. OS-I is an X-linked recessive disorder characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. OS-I mutations produce proteins with a decreased affinity for microtubules.,function:May have E3 ubiquitin ligase activity which targets the catalytic subunit of protein phosphatase 2 for degradation.,induction:A retroviral element acts as an alternative tissue-specific promoter for this gene. The LTR of an HERV-E element enhances the expression in placenta and embryonic kidney.,PTM:Phosphorylated on serine and threonine residues.,similarity:Belongs to the TRIM/RBCC family.,similarity:Contains 1 B30.2/SPRY domain.,similarity:Contains 1 COS domain.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 1 RING-type zinc finger.,similarity:Contains 2 B box-type zinc fingers.,subcellular location:Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis.,subunit:Homodimer or heterodimer with MID2. Interacts with IGBP1.,tissue specificity:In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.,
相关产品: RS0001,RS0002,YM3028,YM3029
细胞定位: Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cytoskeleton, spindle . Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis.
组织表达: In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.