HNRNPDL - heterogeneous nuclear ribonucleoprotein D like Gene
Also Known as HNRNP; JKTBP; HNRPDL; JKTBP2; LGMD1G; LGMDD3; laAUF1
Species: Homo sapiens
About HNRNPDL
This gene has 10 transcripts (splice variants), 166 orthologues, 36 paralogues and is associated with 2 phenotypes. Ubiquitous expression in ovary (RPKM 71.3), endometrium (RPKM 57.4) and 25 other tissues.
Summary
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and Other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
HNRNPDL Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001207000.1 | NP_001193929.1 | heterogeneous nuclear ribonucleoprotein D-like isoform b |
| NM_031372.4 | NP_112740.1 | heterogeneous nuclear ribonucleoprotein D-like isoform a |
HNRNPDL Protein Structure
RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (151 - 218)
RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (235 - 296)
- 0
- 100
- 200
- 300
- 400
- 420 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
heterogeneous nuclear ribonucleoprotein D-like |
|
HNRNPDL Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HNRNPDL | O14979 | HNRNPD | Homo sapiens | Q14103 | 30021884 | |
|
Intra
|
HNRNPDL | O14979 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | TARDBP | Homo sapiens | Q13148 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | WFS1 | Homo sapiens | O76024 | 32814053 | |
|
Intra
|
HNRNPDL | O14979 | SF1 | Homo sapiens | Q15637 | 26420826 | |
|
Intra
|
HNRNPDL | O14979 | SNRPC | Homo sapiens | P09234 | 32296183 | |
|
Intra
|
HNRNPDL | O14979 | SNRPC | Homo sapiens | P09234 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
|
| Muscular Dystrophy |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Mixed Connective Tissue Disease |
|
|
| Multisystem Proteinopathy |
|
|
| Chromosome 4q21 Deletion Syndrome |
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| X-Linked Hereditary Ataxia |
|
|
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
|
| Colon Adenocarcinoma |
|
|
| Myopathy |
|
|
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
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| Frontotemporal Dementia |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | HNRNPDL | VGNC | VGNC:78508 |
| Canis familiaris | HNRNPDL | VGNC | VGNC:41729 |
| Mus musculus | HNRNPDL | MGD | MGI:1355299 |
| Bos taurus | HNRNPDL | VGNC | VGNC:29895 |
| Rattus norvegicus | HNRNPDL | RGD | RGD:1309950 |
| Macaca mulatta | HNRNPDL | VGNC | VGNC:81186 |
| Others | HNRNPDL | NCBI |