HNRPDL

Last updated
HNRNPDL
Identifiers
Aliases HNRNPDL , HNRNP, HNRPDL, JKTBP, JKTBP2, laAUF1, LGMD1G, heterogeneous nuclear ribonucleoprotein D like, LGMDD3
External IDs OMIM: 607137 MGI: 1355299 HomoloGene: 75314 GeneCards: HNRNPDL
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 Mb Chr 5: 100.03 – 100.04 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

Contents

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.

Related Research Articles

Heterogeneous nuclear ribonucleoproteins (hnRNPs) are complexes of RNA and protein present in the cell nucleus during gene transcription and subsequent post-transcriptional modification of the newly synthesized RNA (pre-mRNA). The presence of the proteins bound to a pre-mRNA molecule serves as a signal that the pre-mRNA is not yet fully processed and therefore not ready for export to the cytoplasm. Since most mature RNA is exported from the nucleus relatively quickly, most RNA-binding protein in the nucleus exist as heterogeneous ribonucleoprotein particles. After splicing has occurred, the proteins remain bound to spliced introns and target them for degradation.

HNRNPA1

Heterogeneous nuclear ribonucleoprotein A1 is a protein that in humans is encoded by the HNRNPA1 gene. Mutations in hnRNP A1 are causative of amyotrophic lateral sclerosis and the syndrome multisystem proteinopathy.

HNRNPK

Heterogeneous nuclear ribonucleoprotein K is a protein that in humans is encoded by the HNRNPK gene. It is found in the cell nucleus that binds to pre-messenger RNA (mRNA) as a component of heterogeneous ribonucleoprotein particles. The simian homolog is known as protein H16. Both proteins bind to single-stranded DNA as well as to RNA and can stimulate the activity of RNA polymerase II, the protein responsible for most gene transcription. The relative affinities of the proteins for DNA and RNA vary with solution conditions and are inversely correlated, so that conditions promoting strong DNA binding result in weak RNA binding.

HNRNPA2B1

Heterogeneous nuclear ribonucleoproteins A2/B1 is a protein that in humans is encoded by the HNRNPA2B1 gene.

HNRPU

Heterogeneous nuclear ribonucleoprotein U is a protein that in humans is encoded by the HNRNPU gene.

PCBP1

Poly(rC)-binding protein 1 is a protein that in humans is encoded by the PCBP1 gene.

PCBP2

Poly(rC)-binding protein 2 is a protein that in humans is encoded by the PCBP2 gene.

HNRPD

Heterogeneous nuclear ribonucleoprotein D0 (HNRNPD) also known as AU-rich element RNA-binding protein 1 (AUF1) is a protein that in humans is encoded by the HNRNPD gene. Alternative splicing of this gene results in four transcript variants.

HNRNPC

Heterogeneous nuclear ribonucleoproteins C1/C2 is a protein that in humans is encoded by the HNRNPC gene.

HNRPF

Heterogeneous nuclear ribonucleoprotein F is a protein that in humans is encoded by the HNRNPF gene.

HNRPH1

Heterogeneous nuclear ribonucleoprotein H is a protein that in humans is encoded by the HNRNPH1 gene.

HNRPUL1

Heterogeneous nuclear ribonucleoprotein U-like protein 1 is a protein that in humans is encoded by the HNRNPUL1 gene.

HNRNPL

Heterogeneous nuclear ribonucleoprotein L is a protein that in humans is encoded by the HNRNPL gene.

HNRPAB

Heterogeneous nuclear ribonucleoprotein A/B, also known as HNRPAB, is a protein which in humans is encoded by the HNRPAB gene. Although this gene is named HNRNPAB in reference to its first cloning as an RNA binding protein with similarity to HNRNP A and HNRNP B, it is not a member of the HNRNP A/B subfamily of HNRNPs, but groups together closely with HNRNPD/AUF1 and HNRNPDL.

HNRPH3 Protein-coding gene in humans

Heterogeneous nuclear ribonucleoprotein H3 is a protein that in humans is encoded by the HNRNPH3 gene.

HNRNPR

Heterogeneous nuclear ribonucleoprotein R is a protein that in humans is encoded by the HNRNPR gene.

HNRPH2

Heterogeneous nuclear ribonucleoprotein H2 is a protein that in humans is encoded by the HNRNPH2 gene.

HNRNPA0

Heterogeneous nuclear ribonucleoprotein A0 is a protein that in humans is encoded by the HNRNPA0 gene.

HNRPA3

Heterogeneous nuclear ribonucleoprotein A3 is a protein that in humans is encoded by the HNRNPA3 gene.

PTBP1

Polypyrimidine tract-binding protein 1 is a protein that in humans is encoded by the PTBP1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000152795 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "Entrez Gene: HNRPDL heterogeneous nuclear ribonucleoprotein D-like".

Further reading