HNRNPDL
entrez
9987
canonical
uniprot
O14979
canonical
ensembl
ENSG00000152795
resolver
ensp
ENSP00000295470
resolver
ensp
ENSP00000478723
resolver
ensp
ENSP00000550398
resolver
enst
ENST00000614627
resolver
enst
ENST00000880339
resolver
genesymbol
HNRNPDL
resolver
genesymbol_syn
HNRPDL
resolver
genesymbol_syn
JKTBP
resolver
hgnc
HGNC:5037
resolver
uniprot
A0A087WUK2
resolver
uniprot
Q6SPF2
resolver
uniprot
Q7KZ74
resolver
uniprot
Q7KZ75
resolver
uniprot
Q96IM0
resolver
uniprot
Q96S43
resolver
uniprot_entry
A0A087WUK2_HUMAN
resolver
uniprot_entry
HNRDL_HUMAN
resolver
uniprot_sec
Q6SPF2
resolver
uniprot_sec
Q7KZ74
resolver
uniprot_sec
Q7KZ75
resolver
uniprot_sec
Q96IM0
resolver
uniprot_sec
Q96S43
resolver
amino_acid_sequence
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRHVTAQQPSRLAGGAAIKGGRRRRPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTMEDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTSKKDLTEYLSRFGEVVDCTIKTDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGLSPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTDEEPVKKLLESRYHQIGSGKCEIKVAQPKEVYRQQQQQQKGGRGAAAGGRGGTRGRGRGQGQNWNQGFNNYYDQGYGNYNSAYGGDQNYSGYGGYDYTGYNYGNYGYGQGYADYSGQQSTYGKASRGGGNHQNNYQPY
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115]: 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. {ECO:0000269|PubMed:24647604}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000250, ECO:0000269|PubMed:9538234}.
uniprot
proteins
mass_dalton
46438
uniprot
proteins
mutagenesis
MUTAGEN 404; /note="G->A: Reduces significantly its nuclear localization."; /evidence="ECO:0000269|PubMed:9524220
uniprot
proteins
post_translational_modification
PTM: Dimethylation of Arg-408 is probably of the asymmetric type.
uniprot
proteins
pubmed
10072754
uniprot
proteins
pubmed
11705999
uniprot
proteins
pubmed
12406575
uniprot
proteins
pubmed
15190078
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24647604
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9524220
uniprot
proteins
pubmed
9538234
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}. Cytoplasm {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}. Note=Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner. {ECO:0000269|PubMed:11705999, ECO:0000269|PubMed:12406575}.
uniprot
proteins