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2024-04-27 04:13:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_030809 4603 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2),
transcript variant 1, mRNA.
ACCESSION NM_030809
VERSION NM_030809.2 GI:345110611
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4603)
AUTHORS Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
Schreiber,S. and Nebel,A.
TITLE Investigation of genetic susceptibility factors for human longevity
- a targeted nonsynonymous SNP study
JOURNAL Mutat. Res. 694 (1-2), 13-19 (2010)
PUBMED 20800603
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 4603)
AUTHORS Hendrickx,A., Beullens,M., Ceulemans,H., Den Abt,T., Van Eynde,A.,
Nicolaescu,E., Lesage,B. and Bollen,M.
TITLE Docking motif-guided mapping of the interactome of protein
phosphatase-1
JOURNAL Chem. Biol. 16 (4), 365-371 (2009)
PUBMED 19389623
REFERENCE 3 (bases 1 to 4603)
AUTHORS Gingras,S., Pelletier,S., Boyd,K. and Ihle,J.N.
TITLE Characterization of a family of novel cysteine- serine-rich nuclear
proteins (CSRNP)
JOURNAL PLoS ONE 2 (8), E808 (2007)
PUBMED 17726538
REMARK Publication Status: Online-Only
REFERENCE 4 (bases 1 to 4603)
AUTHORS Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
TITLE Functional proteomics mapping of a human signaling pathway
JOURNAL Genome Res. 14 (7), 1324-1332 (2004)
PUBMED 15231748
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB059091.1, AJ298133.1 and
BM975428.1.
On Aug 31, 2011 this sequence version replaced gi:13540601.
Summary: The protein encoded by this gene belongs to the CSRNP
family of nuclear proteins that share conserved regions, including
cysteine- and serine- rich regions, a basic domain, a
transcriptional activation domain, and bind the sequence 'AGAGTG',
thus have the hallmark of transcription factors. Studies in mice
suggest that these genes may have redundant functions.
Alternatively spliced transcript variants have been found for this
gene. [provided by RefSeq, Aug 2011].
Transcript Variant: This variant (1) represents the protein-coding
transcript.
##Evidence-Data-START##
Transcript exon combination :: AJ298133.1, BC017221.2 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025088 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-121 DB059091.1 1-121
122-4590 AJ298133.1 1-4469
4591-4603 BM975428.1 1-13 c
FEATURES Location/Qualifiers
source 1..4603
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13.11-q13.12"
gene 1..4603
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/note="cysteine-serine-rich nuclear protein 2"
/db_xref="GeneID:81566"
/db_xref="HGNC:16006"
/db_xref="HPRD:12608"
exon 1..333
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/inference="alignment:Splign:1.39.8"
exon 334..570
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/inference="alignment:Splign:1.39.8"
misc_feature 366..368
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/note="upstream in-frame stop codon"
CDS 420..2051
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/note="family with sequence similarity 130, member A1;
CSRNP-2; TGF-beta-induced apoptosis protein 12; protein
phosphatase 1, regulatory subunit 72"
/codon_start=1
/product="cysteine/serine-rich nuclear protein 2"
/protein_id="NP_110436.1"
/db_xref="GI:13540602"
/db_xref="CCDS:CCDS8807.1"
/db_xref="GeneID:81566"
/db_xref="HGNC:16006"
/db_xref="HPRD:12608"
/translation="
MDAFTGSGLKRKFDDVDVGSSVSNSDDEISSSDSADSCDSLNPPTTASFTPTSILKRQKQLRRKNVRFDQVTVYYFARRQGFTSVPSQGGSSLGMAQRHNSVRSYTLCEFAQEQEVNHREILREHLKEEKLHAKKMKLTKNGTVESVEADGLTLDDVSDEDIDVENVEVDDYFFLQPLPTKRRRALLRASGVHRIDAEEKQELRAIRLSREECGCDCRLYCDPEACACSQAGIKCQVDRMSFPCGCSRDGCGNMAGRIEFNPIRVRTHYLHTIMKLELESKRQVSRPAAPDEEPSPTASCSLTGAQGSETQDFQEFIAENETAVMHLQSAEELERLKAEEDSSGSSASLDSSIESLGVCILEEPLAVPEELCPGLTAPILIQAQLPPGSSVLCFTENSDHPTASTVNSPSYLNSGPLVYYQVEQRPVLGVKGEPGTEEGSASFPKEKDLNVFSLPVTSLVACSSTDPAALCKSEVGKTPTLEALLPEDCNPEEPENEDFHPSWSPSSLPFRTDNEEGCGMVKTSQQNEDRPPEDSSLELPLAV
"
exon 571..830
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/inference="alignment:Splign:1.39.8"
exon 831..1127
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/inference="alignment:Splign:1.39.8"
exon 1128..4592
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/inference="alignment:Splign:1.39.8"
variation 1726
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11542510"
variation 2756
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/replace="c"
/replace="t"
/db_xref="dbSNP:11542511"
STS 3212..3311
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/standard_name="A009B06"
/db_xref="UniSTS:59240"
STS 3212..3311
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/standard_name="G32373"
/db_xref="UniSTS:116962"
variation 3841
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/replace="a"
/replace="c"
/db_xref="dbSNP:2306732"
variation 4176
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/replace="g"
/replace="t"
/db_xref="dbSNP:7722"
STS 4391..4554
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/standard_name="A004B24"
/db_xref="UniSTS:37693"
STS 4391..4543
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/standard_name="D12S1401"
/db_xref="UniSTS:26088"
STS 4437..4495
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
/standard_name="D12S1568"
/db_xref="UniSTS:154170"
polyA_signal 4571..4576
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
polyA_site 4592
/gene="CSRNP2"
/gene_synonym="C12orf2; C12orf22; FAM130A1; PPP1R72;
TAIP-12"
ORIGIN
atttcccagccagccccgggtctcggtcaggacgtgccggcgcctataagagccagtgcgctgcggccggatcctattgttagccggagccggggcggttctgggcgtctgctgccgggggcgcccgagttgccggagacgcccggccctctctgcctgccggctgggctgcccaccgccctccctccccgccctgccgccctgggagctccccggccgtcgccgcggggcccgggactcgctcgctcctccctccttcccaccgggctagggcggcggcggcagcgggggcggcagagaccatcacgggaggaggcagctgcggcggggccgaatcctaatgtacctggctagctggtggtgagtaggggctttggggccaacttggtgggctccccaaggaaacccctttgaaaccaatggatgcattcacgggctcgggtctcaagaggaagtttgatgatgtggatgtgggctcatcagtttccaactcagatgatgagatctccagcagtgatagtgctgacagctgcgacagcctcaatcctcctaccactgccagcttcacacccacatccatcctgaagcggcagaagcagctgcggaggaagaatgtacgctttgaccaggtgactgtatactactttgcccggcgccaaggttttaccagtgtgcccagccagggtggtagctctctgggcatggcccagcgccataactctgtacggagctatacactctgtgagtttgcccaggaacaggaggtgaaccatcgagagattctgcgtgagcacctgaaggaagagaaactccatgccaagaaaatgaagctgaccaagaatgggacagtggagtcggtggaggctgatggcctgacgctggatgatgtgtcagatgaagatattgatgtggaaaatgtggaggtggatgattacttcttcctgcagcctctgcccaccaaacggcgacgggccctgctgagggcttctggggtccaccgtattgatgctgaagagaagcaagaacttcgagccatccgcctgtcacgggaagaatgtggttgtgactgccgactgtattgtgacccagaagcgtgtgcctgcagccaggctgggattaaatgccaggtggatcgcatgtcctttccatgtggctgctcccgggatggctgtgggaacatggcaggacgcattgaatttaatccaatccgggtccggactcattacctccacaccattatgaagctggagctggagagcaagcggcaggtgagccgcccagcagccccagatgaggagccctccccgactgccagttgcagcctgacaggagcacagggctctgagacccaggacttccaggagttcattgctgagaatgagacagcagtgatgcacctgcagagtgcagaggaactggagcggctcaaggcagaagaagattccagcggctctagtgccagcctggactcgagcatcgagagcctgggtgtgtgcatcctagaggagcctctggctgtccccgaagagctgtgcccaggccttacagcccccattctcatccaggctcagctgcccccaggctcctctgtcctgtgttttaccgagaactcagaccacccaactgcctcaacggtgaacagcccatcctacttgaacagtgggcccctggtctattatcaagtggagcagaggccagtcttgggagtgaaaggagagcctggtacggaagaaggctcagcctctttcccaaaggagaaggatctgaatgtcttctctctccctgttacctcactcgtggcttgtagctccacagacccagctgccctctgtaaatcagaggtggggaaaacacccaccctagaagctctattgcccgaagattgtaaccctgaggagcctgaaaatgaagacttccacccttcctggtccccctcaagcctccccttccgcacggacaatgaagagggctgtgggatggtgaagacctcccagcagaatgaggatcggccccctgaagattcttccttagaactccctctggcagtgtgacaggcgctagaggtcctgcctcttacccattctctatttattcccttattttatctaacaccatttcaaaacaaaactgtagaagcagctgctgctcccatgttattttattggggtctttggggaatgggtgggaaaggattgtttgagtattttttaaaagggaaacagtaccaaggagaccagccctaccttgatctggggatagtcttggggcaaagaaagctgcgtagtgctgaacattaagctttctgggccactggaacaaagaactaggatctcacaggaaaagctgggtaactcaagcagctattctttctgtagggaccagaacacgagaatttgaagagcatggcaaagccctttctctcccaagccccaggcagagtacaagctcatttttctcggtggttattctgatatcccattttggtgtgtcataatacttcaaactggaaagtcacctggtcgagtctagggaggagggagtggaagggtctctgcttctgtacaaaatctccaggatttacaaaaatgtaacctgccttccttcaatcccatatttggtaaataagttaatatttgacatgtttggtgttctctgacctgttccccacactggggattcctggtctgtaacttgaattgtttcttccacatgttcttaagtactagagttaaacttgtctatgtgtcttttttctctccatcctttttccttcggagaaagagctggattggctggggatatggtataacgagcctgagccttctgtacgtgtctgacactagcactgtcaggcagctttcggctggggctcacccatcccataggaggcctatgtggagcattaactgtggccaaaggaggcagcgggaacaggctgcttgctatctggaaagatgacatatttgtgccatgcttgttttttcacccaggtttttccctctttgtgagatctgagctttagtggaatgtagaatgtggcaatcttaaggtcaccaatcagtttttgttcttttttcctggatctaccctcatggtcgttttcaacatagcgggttagagttcttatactgttccagttcaattccaagaattgcaaatgtttattggacccctccatcttgatgatatataaaaattggaagccaaaccagttcttaaatgctacatgcaactcccagattccaaaggattcaagttctaattataacctttgaagcgtatagaatggaactcattcagtttgattcagttcttacctctgtcaggaggaatacagttcctgttcatcctgtgttctaagatctccattgaacagcactgatttcctttcattagcaaagtgatctttgtctctgttctaaaatggaggcagtagggagcaaaactattcttctcaagcatcctttacaccatactttacttctggtatggtttattaaccacacacacacacaaaagtgaaaaactgtgttgggggggagacactactcctacttatcttgctcataaagccttttctggtgggatattaaggccctggtgtcttacagaaaccatcacgtatgtcgcagcagcatttcacccctgaagtctctaaactctgagcctgaaaagatttgtatttaatacacataacattttttagttcattctgcctttcctatttgttccagtttttgcttggttttagtttggaggggaacttaagtacacagatccttatctctccccatcccctagcctcacaaaacacagttgagagtcttttaagtacctgagctctcgaagctacccagaactgaactagactcccctaccttagactggtaccctcaaacacaggactgaagcttaattgggaatttggctttatggagaaaagaatctttttcaaagtttgtgtcggaaggggagggtgaggtttgcccactgtctctgcaggaaggctccggcttaatctaggaagtagattccagctgcacgatgaggaacacattagcttttgggatcaaaccaggaatatgaatctgtaattattaagctcattgccaacccacaagatatgtttctgaaaacctgtagtttcttaatttaagtccatccccttcattaacgctacagttgtgactcacactgatcccaaacttttaagtgctaaatattaacatttagcattaactgtcttgtcaagcgaaaggccttctctacaacctagtccatctcacttctggtgctacctgagttggacagaattctagctcatggttgctaggaaagctaggcctctgatcatagaagcagatagcttcagtcccagtctaggcctagataaatgactcttattaccacaacccttattattttccaatttcctttctcacatactgtacacaggtagtattttcaatgtgaatccaaagcttgtctggttctctgaaaataattttttcccctttaggttctttacattgtgataatgctgtatttaaagagaatatttaaatgtaatattaaagaaatattcaaaagaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:81566 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:81566 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: ISS
GeneID:81566 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:81566 -> Molecular function: GO:0019902 [phosphatase binding] evidence: IDA
GeneID:81566 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:81566 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:81566 -> Biological process: GO:0010923 [negative regulation of phosphatase activity] evidence: IDA
GeneID:81566 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: ISS
GeneID:81566 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:81566 -> Cellular component: GO:0005634 [nucleus] evidence: ISS
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