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HNRNPA1 Available structures Human UniProt search: List of PDB id codes,,,,,,,,,,,,,,,, Identifiers, ALS19, ALS20, HNRPA1, HNRPA1L3, IBMPFD3, hnRNP A1, hnRNP-A1, UP 1, heterogeneous nuclear ribonucleoprotein A1 External IDs Molecular function • • • • • • • • • • • • Cellular component • • • • • • • • • Biological process • • • • • • • • • • • • • • • • Sources: / Species Human Mouse n/a n/a n/a RefSeq (mRNA) n/a RefSeq (protein) n/a Location (UCSC) n/a n/a search n/a Heterogeneous nuclear ribonucleoprotein A1 is a that in humans is encoded by the HNRNPA1. Mutations in HNRNPA1 are causative of and the syndrome. Contents • • • • • Function [ ] This gene belongs to the A/B 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 repeats of quasi-RRM domains that bind to RNAs. It is one of the most abundant core proteins of hnRNP complexes and it is localized to the nucleoplasm. This protein, along with other hnRNP proteins, is exported from the nucleus, probably bound to mRNA, and is immediately re-imported. Its M9 domain acts as both a nuclear localization and nuclear export signal. The encoded protein is involved in the packaging of pre-mRNA into hnRNP particles, transport of poly A+ mRNA from the nucleus to the cytoplasm, and may modulate splice site selection. Multiple alternatively spliced transcript variants have been found for this gene but only two transcripts are fully described.
These variants have multiple alternative transcription initiation sites and multiple polyA sites. Interactions [ ] Heterogeneous nuclear ribonucleoprotein A1 has been shown to with,. Role in disease [ ] Mutations in hnRNP A1 are a cause of. References [ ].
• Saccone S, Biamonti G, Maugeri S, Bassi MT, Bunone G, Riva S, Della Valle G (Mar 1992). 'Assignment of the human heterogeneous nuclear ribonucleoprotein A1 gene (HNRPA1) to chromosome 12q13.1 by cDNA competitive in situ hybridization'. 12 (1): 171–4..
• Lehner B, Semple JI, Brown SE, Counsell D, Campbell RD, Sanderson CM (Jan 2004). 'Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region'. 83 (1): 153–67.. • Chai Q, Zheng L, Zhou M, Turchi JJ, Shen B (Dec 2003).
'Interaction and stimulation of human FEN-1 nuclease activities by heterogeneous nuclear ribonucleoprotein A1 in alpha-segment processing during Okazaki fragment maturation'. 42 (51): 15045–52.. • Hay DC, Kemp GD, Dargemont C, Hay RT (May 2001). 21 (10): 3482–90.. Further reading [ ].
• Kim S, Park GH, Paik WK (1999). 'Recent advances in protein methylation: enzymatic methylation of nucleic acid binding proteins'. 15 (4): 291–306.. • Buvoli M, Cobianchi F, Bestagno MG, Mangiarotti A, Bassi MT, Biamonti G, Riva S (1990).
9 (4): 1229–35.. • Ghetti A, Bolognesi M, Cobianchi F, Morandi C (1991). 'Modeling by homology of RNA binding domain in A1 hnRNP protein'. 277 (1–2): 272–6.. • Biamonti G, Buvoli M, Bassi MT, Morandi C, Cobianchi F, Riva S (1989). 'Isolation of an active gene encoding human hnRNP protein A1. Evidence for alternative splicing'.
207 (3): 491–503.. • Buvoli M, Biamonti G, Tsoulfas P, Bassi MT, Ghetti A, Riva S, Morandi C (1988). Nucleic Acids Res. 16 (9): 3751–70..
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• Riva S, Morandi C, Tsoulfas P, Pandolfo M, Biamonti G, Merrill B, Williams KR, Multhaup G, Beyreuther K, Werr H (1986). 5 (9): 2267–73.. • Epplen C, Epplen JT (1994).
'Expression of (cac)n/(gtg)n simple repetitive sequences in mRNA of human lymphocytes'. 93 (1): 35–41.. • Siomi H, Dreyfuss G (1995). 129 (3): 551–60..
• Weighardt F, Biamonti G, Riva S (1995). 'Nucleo-cytoplasmic distribution of human hnRNP proteins: a search for the targeting domains in hnRNP A1'. 108 (2): 545–55. • Rajpurohit R, Lee SO, Park JO, Paik WK, Kim S (1994).