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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:

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
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