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Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_006718 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_006718.3, 124381122
Length 3411 bp
Structure linear
Update Date 24-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 2, mRNA.
Product zinc finger protein PLAGL1 isoform 2
Comment

Summary: This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activities. It has been shown to have anti-proliferative properties, and thus thought to function as a tumor suppressor. In addition, overexpression of this gene during fetal development is believed to underlie the rare disorder, transient neonatal diabetes mellitus (TNDM). This gene is imprinted, with preferential expression of the paternal allele in many tissues, however, biallelic expression has been noted in peripheral blood leucocytes. A recent study reports that tissue-specific imprinting results from variable utilization of monoallelic and biallelic promoters. Many transcript variants differing in the 5' UTR and encoding two different isoforms, have been found for this gene. [provided by RefSeq, Oct 2010].


Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate exon in the CDS compared to variant 1. The resulting isoform (2) is longer and has an extended N-terminus compared to isoform 1. Variants 2, 3, 4, 5, and 6 all encode the same isoform.

RefSeq NP_006709.2
CDS 891..2282
Misc Feature(1)876..878
Misc Feature(2)1035..1109
Misc Feature(3)1035..1109
Exon (1)1..315
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (2)316..387
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (3)388..460
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (4)461..492
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (5)493..566
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (6)567..1042
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Exon (7)1043..3406
Gene:PLAGL1
Gene Synonym:LOT1; ZAC; ZAC1
Translation MATFPCQLCGKTFLTLEKFTIHNYSHSRERPYKCVQPDCGKAFVSRYKLMRHMATHSPQK SHQCAHCEKTFNRKDHLKNHLQTHDPNKMAFGCEECGKKYNTMLGYKRHLALHAASSGDL TCGVCALELGSTEVLLDHLKAHAEEKPPSGTKEKKHQCDHCERCFYTRKDVRRHLVVHTG CKDFLCQFCAQRFGRKDHLTRHTKKTHSQELMKESLQTGDLLSTFHTISPSFQLKAAALP PFPLGASAQNGLASSLPAEVHSLTLSPPEQAAQPMQPLPESLASLHPSVSPGSPPPPLPN HKYNTTSTSYSPLASLPLKADTKGFCNISLFEDLPLQEPQSPQKLNPGFDLAKGNAGKVN LPKELPADAVNLTIPASLDLSPLLGFWQLPPPATQNTFGNSTLALGPGESLPHRLSCLGQ QQQEPPLAMGTVSLGQLPLPPIPHVFSAGTGSAILPHFHHAFR
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Position Chain Variation Link
complement(130)-dbSNP:
complement(130)-t, adbSNP:188083405
complement(180)-t, cdbSNP:113189219
complement(279)-t, cdbSNP:67300369
complement(421)-dbSNP:
complement(421)-g, adbSNP:192562088
complement(623)-dbSNP:
complement(623)-g, cdbSNP:2076684
complement(714)-c, adbSNP:77502692
complement(751)-g, adbSNP:138964933
complement(769)-t, cdbSNP:191543871
complement(822)-g, adbSNP:145922363
complement(900)-g, adbSNP:147037984
complement(926)-t, cdbSNP:141506249
complement(938)-g, cdbSNP:147962624
complement(950)-t, cdbSNP:201628824
complement(979)-t, cdbSNP:201696236
complement(1035)-t, adbSNP:186779775
complement(1100)-dbSNP:
complement(1100)-t, cdbSNP:144954752
complement(1165)-t, cdbSNP:139967852
complement(1252)-g, adbSNP:201937527
complement(1257)-c, adbSNP:201753929
complement(1281)-t, cdbSNP:151100437
complement(1286)-g, adbSNP:142899386
complement(1290)-g, cdbSNP:148432028
complement(1311)-t, gdbSNP:17847327
complement(1319)-t, cdbSNP:17073229
complement(1475)-g, adbSNP:141784122
complement(1480)-t, adbSNP:1063413
complement(1496)-t, cdbSNP:36120645
complement(1531)-g, adbSNP:34652819
complement(1551)-t, gdbSNP:201977118
complement(1569)-g, adbSNP:17847328
complement(1590)-, gdbSNP:35411045
complement(1609)-g, cdbSNP:142705655
complement(1673)-g, adbSNP:200072882
complement(1703)-g, adbSNP:149291080
complement(1705)-t, cdbSNP:35263016
complement(1728)-g, cdbSNP:141235151
complement(1736)-t, cdbSNP:62427100
complement(1754)-c, adbSNP:201057231
complement(1774)-g, adbSNP:200573380
complement(1775)-g, adbSNP:17847330
complement(1801)-t, gdbSNP:147054773
complement(1805)-g, adbSNP:200036472
complement(1830)-c, adbSNP:141627165
complement(1838)-g, cdbSNP:147885532
complement(1865)-g, adbSNP:146348932
complement(1913)-t, adbSNP:138688804
complement(2012)-t, gdbSNP:200257642
complement(2022)-g, cdbSNP:201957325
complement(2024)-t, cdbSNP:72546304
complement(2027)-g, adbSNP:145034248
complement(2033)-t, gdbSNP:145386261
complement(2036)-g, cdbSNP:150039945
complement(2038)-g, adbSNP:149400255
complement(2060)-c, adbSNP:17847331
complement(2160..2161)-, gdbSNP:35716705
complement(2218)-t, gdbSNP:36087014
complement(2306)-t, cdbSNP:146546302
complement(2372)-g, adbSNP:150413533
complement(2403)-t, cdbSNP:3544
complement(2420)-, tctdbSNP:112027877
complement(2647)-g, adbSNP:140595869
complement(2767)-g, adbSNP:1804733
complement(2795)-t, gdbSNP:151333282
complement(2890)-t, cdbSNP:142469019
complement(2960)-c, adbSNP:200779763
complement(2975..2976)-, tdbSNP:35981443
complement(2976..2977)-, tdbSNP:150683087
complement(3131)-t, gdbSNP:11556960
complement(3363)-g, adbSNP:1049846
complement(3403)-g, adbSNP:12417
Gene SymbolPLAGL1
Gene SynonymLOT1; ZAC; ZAC1
Chromosome6
Locus Map6q24-q25
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001080951 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 3, mRNA. On-demand $699.00 18
NM_001080952 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 4, mRNA. On-demand $699.00 18
NM_001080953 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 5, mRNA. On-demand $699.00 18
NM_001080954 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 6, mRNA. On-demand $699.00 18
NM_001080955 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 7, mRNA. On-demand $549.00 14
NM_001080956 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 8, mRNA. On-demand $549.00 14
NM_002656 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA. On-demand $549.00 14
NM_006718 Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 2, mRNA. On-demand $699.00 18
Title A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect .
Author Xuan,C., Wang,B.B., Gao,G., Bai,X.Y., Yang,Q., Liu,X.C., Jing,W.B., Ma,X. and He,G.W.
Journal Genet Test Mol Biomarkers 16 (8), 984-987 (2012)
Title A non-covalent interaction between small ubiquitin-like modifier-1 and Zac1 regulates Zac1 cellular functions .
Author Liu,S.T., Chang,Y.L., Wang,W.M., Chung,M.H., Lin,W.S., Chou,W.Y. and Huang,S.M.
Journal Int. J. Biochem. Cell Biol. 44 (3), 547-555 (2012)
Title Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine .
Author Robbins,K.M., Chen,Z., Wells,K.D. and Rivera,R.M.
Journal J. Biomed. Sci. 19, 95 (2012)
Title Zac1, an Sp1-like protein, regulates human p21(WAF1/Cip1) gene expression in HeLa cells .
Author Liu,P.Y., Hsieh,T.Y., Liu,S.T., Chang,Y.L., Lin,W.S., Wang,W.M. and Huang,S.M.
Journal Exp. Cell Res. 317 (20), 2925-2937 (2011)
Title Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters .
Author Valleley,E.M., Cordery,S.F. and Bonthron,D.T.
Journal Hum. Mol. Genet. 16 (8), 972-981 (2007)
Title The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes .
Author Kamiya,M., Judson,H., Okazaki,Y., Kusakabe,M., Muramatsu,M., Takada,S., Takagi,N., Arima,T., Wake,N., Kamimura,K., Satomura,K., Hermann,R., Bonthron,D.T. and Hayashizaki,Y.
Journal Hum. Mol. Genet. 9 (3), 453-460 (2000)
Title hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer .
Author Varrault,A., Ciani,E., Apiou,F., Bilanges,B., Hoffmann,A., Pantaloni,C., Bockaert,J., Spengler,D. and Journot,L.
Journal Proc. Natl. Acad. Sci. U.S.A. 95 (15), 8835-8840 (1998)
Title Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain .
Author Spengler,D., Villalba,M., Hoffmann,A., Pantaloni,C., Houssami,S., Bockaert,J. and Journot,L.
Journal EMBO J. 16 (10), 2814-2825 (1997)
Title Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells .
Author Abdollahi,A., Godwin,A.K., Miller,P.D., Getts,L.A., Schultz,D.C., Taguchi,T., Testa,J.R. and Hamilton,T.C.
Journal Cancer Res. 57 (10), 2029-2034 (1997)
Title Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors .
Author Abdollahi,A., Roberts,D., Godwin,A.K., Schultz,D.C., Sonoda,G., Testa,J.R. and Hamilton,T.C.
Journal Oncogene 14 (16), 1973-1979 (1997)


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