HNRPDL

Heterogeneous nuclear ribonucleoprotein D-like
Identifiers
Symbols HNRNPDL ; HNRNP; HNRPDL; JKTBP; JKTBP2; LGMD1G; laAUF1
External IDs OMIM: 607137 MGI: 1355299 HomoloGene: 75314 GeneCards: HNRNPDL Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 9987 50926
Ensembl ENSG00000152795 ENSMUSG00000029328
UniProt O14979 Q9Z130
RefSeq (mRNA) NM_001207000 NM_016690
RefSeq (protein) NP_001193929 NP_057899
Location (UCSC) Chr 4:
82.42 – 82.43 Mb
Chr 5:
100.03 – 100.04 Mb
PubMed search

Heterogeneous nuclear ribonucleoprotein D-like, also known as HNRPDL, is a protein which in humans is encoded by the HNRPDL gene.[1]

Function

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. Two 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 encoded by this gene is similar to its family member HNRPD.[1]

Clinical Significance

Heterozygous nonsense mutations in HNRNPDL has been identified as the cause of the autosomal disorder, Limb-girdle muscular dystrophy.

References

Further reading


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