HNRPDL

Heterogeneous nuclear ribonucleoprotein D-like, also known as HNRPDL, is a protein which in humans is encoded by the HNRPDL gene.[5]

HNRNPDL
Identifiers
AliasesHNRNPDL, HNRNP, HNRPDL, JKTBP, JKTBP2, laAUF1, LGMD1G, heterogeneous nuclear ribonucleoprotein D like, LGMDD3
External IDsOMIM: 607137 MGI: 1355299 HomoloGene: 75314 GeneCards: HNRNPDL
Orthologs
SpeciesHumanMouse
Entrez

9987

50926

Ensembl

ENSG00000152795

ENSMUSG00000029328

UniProt

O14979

Q9Z130

RefSeq (mRNA)

NM_001207000
NM_005463
NM_031372

NM_016690

RefSeq (protein)

NP_001193929
NP_112740

n/a

Location (UCSC)Chr 4: 82.42 – 82.43 MbChr 5: 100.18 – 100.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

Clinical Significance

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

References

  1. GRCh38: Ensembl release 89: ENSG00000152795 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029328 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: HNRPDL heterogeneous nuclear ribonucleoprotein D-like".

Further reading


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