2024-03-29 10:34:18, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001256576 5384 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens ectodermal-neural cortex 1 (with BTB domain) (ENC1), transcript variant 4, mRNA. ACCESSION NM_001256576 VERSION NM_001256576.1 GI:375268726 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 5384) AUTHORS Seng,S., Avraham,H.K., Birrane,G., Jiang,S., Li,H., Katz,G., Bass,C.E., Zagozdzon,R. and Avraham,S. TITLE NRP/B mutations impair Nrf2-dependent NQO1 induction in human primary brain tumors JOURNAL Oncogene 28 (3), 378-389 (2009) PUBMED 18981988 REMARK GeneRIF: NRP/B mutations impair Nrf2-dependent NQO1 induction in primary brain tumors. REFERENCE 2 (bases 1 to 5384) AUTHORS Wang,X.J. and Zhang,D.D. TITLE Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level JOURNAL PLoS ONE 4 (5), E5492 (2009) PUBMED 19424503 REMARK GeneRIF: ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation. REFERENCE 3 (bases 1 to 5384) AUTHORS Seng,S., Avraham,H.K., Jiang,S., Yang,S., Sekine,M., Kimelman,N., Li,H. and Avraham,S. TITLE The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells JOURNAL Cancer Res. 67 (18), 8596-8604 (2007) PUBMED 17875699 REMARK GeneRIF: NRP/B enhances oxidative stress responses in breast cancer cells via the Nrf2 pathway, identifying a novel role of nuclear matrix protein(s) in oxidative stress responses. REFERENCE 4 (bases 1 to 5384) AUTHORS Fujita,M., Furukawa,Y., Tsunoda,T., Tanaka,T., Ogawa,M. and Nakamura,Y. TITLE Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas JOURNAL Cancer Res. 61 (21), 7722-7726 (2001) PUBMED 11691783 REFERENCE 5 (bases 1 to 5384) AUTHORS Kim,T.A., Ota,S., Jiang,S., Pasztor,L.M., White,R.A. and Avraham,S. TITLE Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors JOURNAL Gene 255 (1), 105-116 (2000) PUBMED 10974570 REFERENCE 6 (bases 1 to 5384) AUTHORS Zhao,L., Gregoire,F. and Sul,H.S. TITLE Transient induction of ENC-1, a Kelch-related actin-binding protein, is required for adipocyte differentiation JOURNAL J. Biol. Chem. 275 (22), 16845-16850 (2000) PUBMED 10828068 REFERENCE 7 (bases 1 to 5384) AUTHORS Hernandez,M.C., Andres-Barquin,P.J., Kuo,W.L. and Israel,M.A. TITLE Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization JOURNAL Cytogenet. Cell Genet. 87 (1-2), 89-90 (1999) PUBMED 10640818 REFERENCE 8 (bases 1 to 5384) AUTHORS Hernandez,M.C., Andres-Barquin,P.J., Holt,I. and Israel,M.A. TITLE Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors JOURNAL Exp. Cell Res. 242 (2), 470-477 (1998) PUBMED 9683534 REFERENCE 9 (bases 1 to 5384) AUTHORS Kim,T.A., Lim,J., Ota,S., Raja,S., Rogers,R., Rivnay,B., Avraham,H. and Avraham,S. TITLE NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation JOURNAL J. Cell Biol. 141 (3), 553-566 (1998) PUBMED 9566959 REFERENCE 10 (bases 1 to 5384) AUTHORS Polyak,K., Xia,Y., Zweier,J.L., Kinzler,K.W. and Vogelstein,B. TITLE A model for p53-induced apoptosis JOURNAL Nature 389 (6648), 300-305 (1997) PUBMED 9305847 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC026405.5, AK295128.1 and BT007392.1. Summary: This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]. Transcript Variant: This variant (4) uses an alternate splice site, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK295128.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025081, ERS025082 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-698 AC026405.5 99425-100122 c 699-1317 AK295128.1 4-622 1318-2128 BT007392.1 323-1133 2129-2959 AK295128.1 1434-2264 2960-5384 AC026405.5 86104-88528 c FEATURES Location/Qualifiers source 1..5384 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="5" /map="5q13" gene 1..5384 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="ectodermal-neural cortex 1 (with BTB domain)" /db_xref="GeneID:8507" /db_xref="HGNC:3345" /db_xref="MIM:605173" exon 1..1118 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /inference="alignment:Splign:1.39.8" misc_feature 1071..1073 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="upstream in-frame stop codon" exon 1119..2797 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /inference="alignment:Splign:1.39.8" CDS 1215..2765 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="isoform 2 is encoded by transcript variant 4; nuclear restricted protein, BTB domain-like (brain); tumor protein p53 inducible protein 10; kelch-like 35; ectoderm-neural cortex protein 1; kelch-like protein 37; p53-induced gene 10 protein; nuclear matrix protein NRP/B; ectodermal-neural cortex 1 (with BTB-like domain); kelch-like family member 37" /codon_start=1 /product="ectoderm-neural cortex protein 1 isoform 2" /protein_id="NP_001243505.1" /db_xref="GI:375268727" /db_xref="CCDS:CCDS58958.1" /db_xref="GeneID:8507" /db_xref="HGNC:3345" /db_xref="MIM:605173" /translation="
MFSGGLKESQDSEVNFDNSIHPEVLELLLDYAYSSRVIINEENAESLLEAGDMLEFQDIRDACAEFLEKNLHPTNCLGMLLLSDAHQCTKLYELSWRMCLSNFQTIRKNEDFLQLPQDMVVQLLSSEELETEDERLVYESAINWISYDLKKRYCYLPELLQTVRLALLPAIYLMENVAMEELITKQRKSKEIVEEAIRCKLKILQNDGVVTSLCARPRKTGHALFLLGGQTFMCDKLYLVDQKAKEIIPKADIPSPRKEFSACAIGCKVYITGGRGSENGVSKDVWVYDTLHEEWSKAAPMLVARFGHGSAELKHCLYVVGGHTAATGCLPASPSVSLKQVEHYDPTINKWTMVAPLREGVSNAAVVSAKLKLFAFGGTSVSHDKLPKVQCYDQCENRWTVPATCPQPWRYTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDVTAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVWNSITTVPYSLIPTAFVSTWKHLPS
" misc_feature <1215..1427 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="Broad-Complex, Tramtrack and Bric a brac; Region: BTB; smart00225" /db_xref="CDD:197585" misc_feature 1440..1739 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="BTB And C-terminal Kelch; Region: BACK; pfam07707" /db_xref="CDD:149006" misc_feature 1980..2117 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="Kelch motif; Region: Kelch_1; pfam01344" /db_xref="CDD:201739" misc_feature 2160..2318 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="Kelch domain; Region: Kelch; smart00612" /db_xref="CDD:128874" misc_feature 2436..2564 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="Kelch motif; Region: Kelch_1; pfam01344" /db_xref="CDD:201739" misc_feature 2574..2711 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /note="Kelch motif; Region: Kelch_1; pfam01344" /db_xref="CDD:201739" exon 2798..5384 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /inference="alignment:Splign:1.39.8" variation 3324 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /replace="c" /replace="t" /db_xref="dbSNP:11557038" STS 3670..3808 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /standard_name="D5S1949E" /db_xref="UniSTS:473366" variation 4631 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /replace="c" /replace="t" /db_xref="dbSNP:1802334" STS 5062..5163 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /standard_name="D5S2420" /db_xref="UniSTS:55536" STS 5153..5304 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" /standard_name="D5S1939" /db_xref="UniSTS:154193" polyA_signal 5355..5360 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" polyA_site 5381 /gene="ENC1" /gene_synonym="CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10" ORIGIN
agagtccagccgggggtgccgcacccactggggagtggggagggaggacacataggaaatgcctggggctggagtctctttggctctctgccagcaagaaacttaaacgtcctggcttgctcaacccgagtgtccctaaactgtccagacttttgcccgtccattgccactatctctccccactctgggtgtcctacccaaggcgctgtctatgcgtgcccagggcctgtcctgcggatacccagctcgccccttgcagccctttttagagcatctcgcgggctctggcatcaccaagcgcacagccccgggctgcgctcccctaaggtgggtccctcagatccggggctgtccattaaccaggctggcccaaagaggcgcagacactcgaacccgggaaaacttattttattctcggttcccggggttgcagctgccagcggctgagacagtgcgtccgctttgtctctctgcactccccgcagcccccctctcccgcttcctctcccgattaactcccccgacacgctcttctctagctcctctcctcctcccactccttctcctcctcttcctcctcctacaccacaggccgcgctaatgcgcttcctccctcccccggtgtcggtctctttgcatacgcgccccctcccctccccgccgcgccacttatagcggggcgcacggcggcggggcgcagactgctctggcagccggagaggaggcggtgcggcggtggcgctgcggagacccggtccagacgcctggcggccgccggcacacaaggcgctttctagctccctcccccgagcgcacagcccgcctccttccgcggcgcctgcagtggcaggcttgctctgccctaccgtgacgcgctccggagacgctctgcgggtcctggacaccgggtccgcggcgtggggacgacagacggaggcgaacgccatcggtagccggtccgcgagccatcgttcggggcgcagtcctctccccggctggccctcctttctccggggcattcgccaccgcttccctgggctgagacgaccggttcgtcgcctccttgcccgtgaccgtcgctagaactcagttgtgcgttgcggccagtcgccactgctcagcgtctcttcactgacgtccttctccatgccggaaataggaccttcccttgccaccgggcagtgctggctgcatgcagtcgctactttgaggccatgttcagtggtggcctgaaagagagccaggacagtgaggtcaactttgacaattccatccacccagaagtcttggagctgctgcttgactatgcgtactcctcccgggtcatcatcaatgaagaaaatgcagaatcgctcctggaagctggtgacatgctggagtttcaagacatccgggatgcatgtgcagagttcctggaaaagaacctgcatcccaccaactgcctgggcatgctgctgctgtctgatgcacaccagtgcaccaagctgtacgaactatcttggagaatgtgtctcagcaacttccaaaccatcaggaagaatgaagatttcctccagctgccccaggacatggtagtgcaactcttgtccagtgaagagctggagacagaggatgaaaggcttgtgtacgagtctgcaattaactggatcagctatgacctgaagaagcgctattgctacctcccagaactgttgcagacagtaaggctggcacttctgccagccatctatctcatggagaatgtggccatggaggaactcatcaccaagcagagaaagagtaaggaaattgtggaagaggccatcaggtgcaaactgaaaatcctgcagaatgacggtgtggtaaccagcctctgtgcccgacctcggaaaactggccatgccctcttccttctgggaggacagactttcatgtgtgacaagttgtatctggtagaccagaaggccaaagaaatcattcccaaggctgacattcccagcccaagaaaagagtttagtgcatgtgcgattggctgcaaagtgtacattactggggggcgggggtctgaaaatggggtctcaaaagatgtctgggtttatgataccctgcacgaggagtggtccaaggctgcccccatgctggtggccaggtttggccatggctctgctgaactgaagcactgcctgtatgtggttggggggcacacggccgcaactggctgcctcccggcctccccctcagtctctctaaagcaggtagaacattatgaccccacaatcaacaaatggaccatggtggccccactccgagaaggcgttagcaacgccgcagtagtgagtgccaaacttaagttatttgctttcggaggtaccagtgtcagtcatgacaagctccccaaagttcagtgttacgatcagtgtgaaaacaggtggactgtaccggccacctgtccccagccctggcgttacacagcagcagctgtgctggggaaccagatttttattatggggggtgatacagaattctctgcctgctctgcttataaattcaacagtgagacttaccagtggaccaaggtgggagatgtgacagcaaagcgcatgagctgccatgctgtggcctctggaaacaaactctacgtggttggaggatactttggcattcagcgatgcaagactttggactgctacgatccaacattagacgtgtggaacagcatcaccactgtcccgtactcgctgattcctactgcatttgtcagcacctggaaacatctgccttcttaaatgcagtacattctaaagagagtgagcatgagctcactccatcactcgatgagataatatgagatttctacttcggagaggccaagtctaatgaagagaaaaaaaggaaaagaagttgcaagactcgaataaaatctgctgcaccttgtaaatgctctaactggacatgaaggaaaggggcgagggaggggggtgggatttttggtgcaagtagcacatggtttaaatatgaatgaacaaacctgtgatctagtccttgtcttgtaattgtggattaatgtcaatgttaatcagcccctcaaagggagagaaaagctggaccttttcccttgctgtaccatattcagcatttgatttccatgggccccaccatttatgtgtagaatttgaaatggttgtcacctctctctgaggacagagcttgaagcctccacaccagctgctgctggagattcaaagcccaactgtgggtccgagagggaagctggctgggctggctgaagaatgaagaccactggactctccgttaatctctaaggggtctgctccccaggaacgtttctgaacaatggggactttgttggtagccatttggtagatgttcttttctatttataagtgactttaaactttcccttggctgttaagaagtttgttatagatttagctatttattgttcgatgcctgcatgctgaaacaatgcctacagctgtcttcacatgtatggacgtgtgtgaatggttgtacgttttgcacattttgtggctgttgagatgtgctttgctgcacaaacatgaaaatttttgagttacaatttggagcataactggagggtgggttggggaggggtggatttttaaaatgtcaagacagggaaggatgacaaaatggaaatttaaatgacatcctagaggtagagaaaccgtggagatcgcttttctcagactcaccaacttttaatgggatttcatggggtttggttgtgctgatagggtaaggggaggctgctttctgcccttctccccactcccatctgatttacttaattcagtctcagctgctgaaatttggaaaggaccaaattgctttacagtttttttctttgtgtagtatcttgaaatcctggaaaattctatggaatagttctgtatatagggcacaagtaaaggcattgtccaaagtttatttatttatttattaccctaagaatgctttgccataaccacatttaatgggaaaaacggcagtatcacagatgtaaattaactcaccagatttactgggcctgaactcattctcttcttgctatatgatttagcaagttctagaaggtctccaagacaataattacattggcacaatgtatacttcagtgctcacccgtaggcaaatctctttttaaaaaactctttggtgcacaagtaacacatttggccacaaaacaccaaagaattgtaggcagtggcccctattgagaagttttccggtagagttggaaatcagttgtgaatacattctttgctagttggagtgcttgtttactaagcatgtgccgtcgtaggtattagtgctagtctcagataggtgcttcccctgaggtgcaggggaagaccaaagtttgcaactcgaactgctttcgtccatgtttctcacattgctgtattttagaaaataggggttaagactgataacaaccttttacattgtgactgtgtttgcattgtctaatgacagataaatccttaacatttctctccaccttagtactttagactaattgtgtttgtccgtccatgccatgaatgagtgggctgtagttgggcctaaataaatgagctgttggaagaaaagaatcacagtactttccagcagtcagtccctggttcctagatgtgttctaagcaatgcaaatgtctaattgtcccccagtgggcatagtcagtgtcgtttatattgtagcagttacagctctgtagtttatgatgcaaatctgccaagagagatgtatgtgtcactgcatggcttctgaaagcaggatgaattttctgcagctgtttcaaagttggggtctgttcttgaatcctctattaattactgtgtgtgagccagagggagctgtggtaagggttgggcccccagcctgtagggaactttctggactcccactctttgaatcgatataggcatttggtctcactacttgaccattctcaccctgtgaaacgtcccacactttgaagcaaatacaattcacagcacagtacacacaaaaaccttggcataagacagagaaggttcttcttattttgtgggctggttgctgtagaaacacataacaaagggcagccctccacttctggtataattgtgtagccccttttctttgggcttgacacctgtcttgaataagagtgattagagctgcataatgtccctctcttggctattgaccatgtggttcacgtacaaaactctgtataagttgaaggaaaatgttcatgttcatatgtacttgtttgctatgactacattttgaggttttgtaaaactgttatttttttttttttcacaatgtgaaactgaaggtcaataaattattagagattttctcttcatta
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:8507 -> Molecular function: GO:0003779 [actin binding] evidence: IEA GeneID:8507 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:8507 -> Biological process: GO:0007275 [multicellular organismal development] evidence: TAS GeneID:8507 -> Biological process: GO:0007399 [nervous system development] evidence: TAS GeneID:8507 -> Biological process: GO:0010499 [proteasomal ubiquitin-independent protein catabolic process] evidence: IDA GeneID:8507 -> Biological process: GO:0016567 [protein ubiquitination] evidence: IDA GeneID:8507 -> Biological process: GO:0017148 [negative regulation of translation] evidence: IDA GeneID:8507 -> Cellular component: GO:0005634 [nucleus] evidence: TAS GeneID:8507 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:8507 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA GeneID:8507 -> Cellular component: GO:0016363 [nuclear matrix] evidence: IEA GeneID:8507 -> Cellular component: GO:0031463 [Cul3-RING ubiquitin ligase complex] evidence: IDA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.