SNRPN upstream reading frame protein

SNURF
Identifiers
Aliases	SNURF , SNRPN upstream reading frame, SNRPN upstream open reading frame
External IDs	MGI: 1891236 HomoloGene: 36493 GeneCards: SNURF
Gene location (Human)
Chr.	Chromosome 15 (human)
End	24,977,850 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	59,654,797 bp
RNA expression pattern
	Top expressed in
	ganglionic eminence; ; stromal cell of endometrium; ; islet of Langerhans; ; skeletal muscle tissue; ; superior frontal gyrus; ; left ventricle; ; corpus callosum; ; ascending aorta; ; gastrocnemius muscle; ; pituitary gland;
	Top expressed in
	hypothalamus; ; cerebellum; ; cerebellar cortex; ; superior frontal gyrus; ; ganglionic eminence; ; lens; ; neural tube; ; ganglion; ; sensory ganglion; ; quadriceps femoris muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	molecular function ; protein binding ; RNA binding ;
Cellular component	nucleus ; nuclear speck ; cytoplasm ; U5 snRNP ; catalytic step 2 spliceosome ; U4/U6 x U5 tri-snRNP complex ; spliceosomal complex ; U4 snRNP ; small nuclear ribonucleoprotein complex ; U2-type prespliceosome ; nucleoplasm ; U1 snRNP ; U2 snRNP ;
Biological process	biological process ; RNA splicing ; mRNA splicing, via spliceosome ; response to hormone ;
	Sources:Amigo / QuickGO
Orthologs
	8926
	84704
	ENSG00000273173
	ENSMUSG00000102627
	Q9Y675 ; P63162
	Q9WU12
	NM_005678 ; NM_022804 ; NM_001394334
	NM_033174
NP_005669 ; NP_073715 ; NP_003088 ; NP_073716 ; NP_073717 ;
	NP_073718 ; NP_073719 ; NP_001336383 ; NP_001336384 ; NP_001336385 ; NP_001336386 ; NP_001336387 ; NP_001336388 ; NP_001336389 ; NP_001336390 ; NP_001336391 ; NP_001336392 ; NP_001336393 ; NP_001336394 ; NP_001365178 ; NP_001365180 ; NP_001365181 ; NP_001365182 ; NP_001365183 ; NP_001365184 ; NP_001365185 ; NP_001365186 Contents Function ; References ; Further reading ;
	NP_149409
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated May 13, 2024

SNRPN upstream reading frame protein is a protein that in humans is encoded by the SNURF gene.^[5]^[6]

Function

This gene encodes a highly basic protein localized to the nucleus. The evolutionarily constrained open reading frame is found on a bicistronic transcript which has a downstream ORF encoding the small nuclear ribonucleoprotein polypeptide N. The upstream coding region utilizes the first three exons of the transcript, a region that has been identified as an imprinting center. Multiple transcription initiation sites have been identified and extensive alternative splicing occurs in the 5' untranslated region but the full-length nature of these transcripts has not been determined. An alternate exon has been identified that substitutes for exon 4 and leads to a truncated, monocistronic transcript. Alternative splicing or deletion caused by a translocation event in the 5' untranslated region or coding region of this gene leads to Angelman syndrome or Prader-Willi syndrome due to parental imprint switch failure. The function of this protein is not yet known.^[6]

Related Research Articles

Ubiquitin-protein ligase E3A (UBE3A) also known as E6AP ubiquitin-protein ligase (E6AP) is an enzyme that in humans is encoded by the UBE3A gene. This enzyme is involved in targeting proteins for degradation within cells.

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.

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

Survival of motor neuron 1 (SMN1), also known as component of gems 1 or GEMIN1, is a gene that encodes the SMN protein in humans.

Small nuclear ribonucleoprotein Sm D1 is a protein that in humans is encoded by the SNRPD1 gene.

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.

Small nuclear ribonucleoprotein-associated proteins B and B' is a protein that in humans is encoded by the SNRPB gene.

Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.

Small nuclear ribonucleoprotein Sm D2 is a protein that in humans is encoded by the SNRPD2 gene. It belongs to the small nuclear ribonucleoprotein core protein family, and is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.

Small nuclear ribonucleoprotein E is a protein that in humans is encoded by the SNRPE gene.

Heterogeneous nuclear ribonucleoprotein G is a protein that in humans is encoded by the RBMX gene.

U1 small nuclear ribonucleoprotein A is a protein that in humans is encoded by the SNRPA gene.

Small nuclear ribonucleoprotein F is a protein that in humans is encoded by the SNRPF gene.

U2 small nuclear ribonucleoprotein A' is a protein that in humans is encoded by the SNRPA1 gene.

U2 small nuclear ribonucleoprotein B is a protein that in humans is encoded by the SNRPB2 gene.

U1 small nuclear ribonucleoprotein C is a protein that in humans is encoded by the SNRPC gene.

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

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

Survival of motor neuron 2 (SMN2) is a gene that encodes the SMN protein in humans.

<i>Ube3a-ATS</i> Non-coding RNA in the species Homo sapiens

UBE3A-ATS/Ube3a-ATS (human/mouse), otherwise known as ubiquitin ligase E3A-ATS, is the name for the antisense DNA strand that is transcribed as part of a larger transcript called LNCAT at the Ube3a locus. The Ube3a locus is imprinted and in the central nervous system expressed only from the maternal allele. Silencing of Ube3a on the paternal allele is thought to occur through the Ube3a-ATS part of LNCAT, since non-coding antisense transcripts are often found at imprinted loci. The deletion and/or mutation of Ube3a on the maternal chromosome causes Angelman syndrome (AS) and Ube3a-ATS may prove to be an important aspect in finding a therapy for this disease. While in patients with AS the maternal Ube3a allele is inactive, the paternal allele is intact but epigenetically silenced. If unsilenced, the paternal allele could be a source of active Ube3a protein in AS patients. Therefore, understanding the mechanisms of how Ube3a-ATS might be involved in silencing the paternal Ube3a may lead to new therapies for AS. This possibility has been demonstrated by a recent study where the drug topotecan, administered to mice suffering from AS, activated expression of the paternal Ube3a gene by lowering the transcription of Ube3a-ATS.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000273173 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000102627 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Gray TA, Saitoh S, Nicholls RD (May 1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proceedings of the National Academy of Sciences of the United States of America. 96 (10): 5616–21. Bibcode:1999PNAS...96.5616G. doi: 10.1073/pnas.96.10.5616 . PMC 21909 . PMID 10318933.
1 2 "Entrez Gene: SNURF SNRPN upstream reading frame".

Schmauss C, McAllister G, Ohosone Y, Hardin JA, Lerner MR (February 1989). "A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B'". Nucleic Acids Research. 17 (4): 1733–43. doi:10.1093/nar/17.4.1733. PMC 331831 . PMID 2522186.
Rokeach LA, Jannatipour M, Haselby JA, Hoch SO (March 1989). "Primary structure of a human small nuclear ribonucleoprotein polypeptide as deduced by cDNA analysis". The Journal of Biological Chemistry. 264 (9): 5024–30. doi: 10.1016/S0021-9258(18)83693-6 . PMID 2522449.
Renz M, Heim C, Bräunling O, Czichos A, Wieland C, Seelig HP (September 1989). "Expression of the major human ribonucleoprotein (RNP) autoantigens in Escherichia coli and their use in an EIA for screening sera from patients with autoimmune diseases". Clinical Chemistry. 35 (9): 1861–3. doi: 10.1093/clinchem/35.9.1861 . PMID 2528429.
Sharpe NG, Williams DG, Howarth DN, Coles B, Latchman DS (July 1989). "Isolation of cDNA clones encoding the human Sm B/B' auto-immune antigen and specifically reacting with human anti-Sm auto-immune sera". FEBS Letters. 250 (2): 585–90. Bibcode:1989FEBSL.250..585S. doi: 10.1016/0014-5793(89)80801-4 . PMID 2753153.
Esposito F, Fiore F, Cimino F, Russo T (August 1993). "Isolation and structural characterization of the rat gene encoding the brain specific snRNP-associated polypeptide "N"". Biochemical and Biophysical Research Communications. 195 (1): 317–26. doi:10.1006/bbrc.1993.2047. PMID 8363612.
Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD (February 1996). "Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene". American Journal of Human Genetics. 58 (2): 335–46. PMC 1914536 . PMID 8571960.
Sun Y, Nicholls RD, Butler MG, Saitoh S, Hainline BE, Palmer CG (April 1996). "Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient". Human Molecular Genetics. 5 (4): 517–24. doi:10.1093/hmg/5.4.517. PMC 6057871 . PMID 8845846.
Poukka H, Aarnisalo P, Santti H, Jänne OA, Palvimo JJ (January 2000). "Coregulator small nuclear RING finger protein (SNURF) enhances Sp1- and steroid receptor-mediated transcription by different mechanisms". The Journal of Biological Chemistry. 275 (1): 571–9. doi: 10.1074/jbc.275.1.571 . PMID 10617653.
Saville B, Poukka H, Wormke M, Janne OA, Palvimo JJ, Stoner M, Samudio I, Safe S (January 2002). "Cooperative coactivation of estrogen receptor alpha in ZR-75 human breast cancer cells by SNURF and TATA-binding protein". The Journal of Biological Chemistry. 277 (4): 2485–97. doi: 10.1074/jbc.M109021200 . PMID 11696545.
Runte M, Hüttenhofer A, Gross S, Kiefmann M, Horsthemke B, Buiting K (November 2001). "The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A". Human Molecular Genetics. 10 (23): 2687–700. doi:10.1093/hmg/10.23.2687. PMID 11726556.
Runte M, Kroisel PM, Gillessen-Kaesbach G, Varon R, Horn D, Cohen MY, Wagstaff J, Horsthemke B, Buiting K (May 2004). "SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome". Human Genetics. 114 (6): 553–61. doi:10.1007/s00439-004-1104-z. PMID 15014980. S2CID 26493956.
Rodriguez-Jato S, Nicholls RD, Driscoll DJ, Yang TP (2005). "Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus". Nucleic Acids Research. 33 (15): 4740–53. doi:10.1093/nar/gki786. PMC 1188517 . PMID 16116039.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129 . PMID 16344560.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000273173 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000102627 – 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.

[pmid10318933-5] Gray TA, Saitoh S, Nicholls RD (May 1999). "An imprinted, mammalian bicistronic transcript encodes two independent proteins". Proceedings of the National Academy of Sciences of the United States of America. 96 (10): 5616–21. Bibcode:1999PNAS...96.5616G. doi: 10.1073/pnas.96.10.5616 . PMC 21909 . PMID 10318933.

[entrez-6] 1 2 "Entrez Gene: SNURF SNRPN upstream reading frame".

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[6]

SNRPN upstream reading frame protein

Contents

Function

Related Research Articles

References

Further reading