AlphaFold predicted structure
HNRNPDL · O14979
Mean pLDDT
62.8/ 100
Low
420 residues
Confidence breakdown
- Very high(≥ 90)15%
- Confident(70–90)24%
- Low(50–70)19%
- Very low(< 50)43%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
HNRNPDL
Chr 4q21.22heterogeneous nuclear ribonucleoprotein D like
- Aliases:
- JKTBP, laAUF1
- MANE:
- ENST00000295470.10
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
autosomal dominant limb-girdle muscular dystrophy type 1G
0.68limb-girdle muscular dystrophy
0.37Autosomal dominant limb-girdle muscular dystrophy
0.37muscular dystrophy, limb-girdle, autosomal dominant
0.37cancer
0.08rheumatoid arthritis
0.08cervical carcinoma
0.07placenta praevia
0.05acute tonsillitis
0.05crush injury
0.04
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Heterogeneous nuclear ribonucleoprotein D-like
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