HNRPDL

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; OMA:HNRNPDL - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4q21.22 Start 82,422,565 bp End 82,430,462 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 E4|5 48.46 cM Start 100,181,436 bp End 100,187,523 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad tendon of biceps brachii ganglionic eminence ventricular zone left ovary right ovary body of uterus cartilage tissue internal globus pallidus tibial nerve Top expressed in fossa condyle medullary collecting duct primitive streak Paneth cell somite renal corpuscle vas deferens endothelial cell of lymphatic vessel hair follicle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function poly(G) binding single-stranded DNA binding DNA binding double-stranded DNA binding protein binding poly(A) binding nucleic acid binding RNA binding sequence-specific DNA binding sequence-specific double-stranded DNA binding Cellular component cytoplasm spliceosomal complex extracellular exosome nucleus nucleoplasm cytosol ribonucleoprotein complex Biological process regulation of gene expression RNA processing regulation of transcription, DNA-templated transcription, DNA-templated interleukin-12-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 5: 100.18 – 100.19 Mb PubMed search
Wikidata
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Heterogeneous nuclear ribonucleoprotein D-like, also known as HNRPDL, is a protein which in humans is encoded by the HNRPDL gene.

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.

Clinical Significance

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

Further reading

• Doi A, Shiosaka T, Takaoka Y, et al. (1998). "Molecular cloning of the cDNA encoding A + U-rich element RNA binding factor". Biochim. Biophys. Acta. 1396 (1): 51–6. doi:10.1016/s0167-4781(97)00223-6. PMID 9524220.
• Tsuchiya N, Kamei D, Takano A, et al. (1998). "Cloning and characterization of a cDNA encoding a novel heterogeneous nuclear ribonucleoprotein-like protein and its expression in myeloid leukemia cells". J. Biochem. 123 (3): 499–507. doi:10.1093/oxfordjournals.jbchem.a021964. PMID 9538234.
• Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
• Kamei D, Tsuchiya N, Yamazaki M, et al. (1999). "Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL)". Gene. 228 (1–2): 13–22. doi:10.1016/S0378-1119(99)00020-7. PMID 10072754.
• Kawamura H, Tomozoe Y, Akagi T, et al. (2002). "Identification of the nucleocytoplasmic shuttling sequence of heterogeneous nuclear ribonucleoprotein D-like protein JKTBP and its interaction with mRNA". J. Biol. Chem. 277 (4): 2732–9. doi:10.1074/jbc.M108477200. PMID 11705999.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Boopathi E, Lenka N, Prabu SK, et al. (2005). "Regulation of murine cytochrome c oxidase Vb gene expression during myogenesis: YY-1 and heterogeneous nuclear ribonucleoprotein D-like protein (JKTBP1) reciprocally regulate transcription activity by physical interaction with the BERF-1/ZBP-89 factor". J. Biol. Chem. 279 (34): 35242–54. doi:10.1074/jbc.M403160200. PMID 15190078.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
• Reboll MR, Oumard A, Gazdag AC, et al. (2007). "NRF IRES activity is mediated by RNA binding protein JKTBP1 and a 14-nt RNA element". RNA. 13 (8): 1328–40. doi:10.1261/rna.545407. PMC 1924892. PMID 17592041.