HNRNPDL
Function
Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3'-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensus sequence.
Involvement in disease
Muscular dystrophy, limb-girdle, autosomal dominant 3
LGMDD3
An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDD3 is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Dimethylation of Arg-408 is probably of the asymmetric type.
Tissue Specificity
Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. Expressed in myeloid leukemia, gastric adenocarcinoma, cervical carcinoma, hepatoma, fibrosarcoma, colon adenocarcinoma, epidermoid carcinoma, osteosarcoma and urinary bladder carcinoma cells.
Cellular localization
- Nucleus
- Cytoplasm
- Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner.
Alternative names
HNRPDL, JKTBP, HNRNPDL, Heterogeneous nuclear ribonucleoprotein D-like, hnRNP D-like, hnRNP DL, AU-rich element RNA-binding factor, JKT41-binding protein, Protein laAUF1