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    ENC1 ectodermal-neural cortex 1 (with BTB-like domain) [ Homo sapiens ]

    Gene ID: 8507, updated on 11-May-2012
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    Summary

    Official Symbol
    ENC1provided by HGNC
    Official Full Name
    ectodermal-neural cortex 1 (with BTB-like domain)provided by HGNC
    Primary source
    HGNC:3345
    See related
    Ensembl:ENSG00000171617; HPRD:05529; MIM:605173; Vega:OTTHUMG00000102059
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NRPB; CCL28; ENC-1; PIG10; KLHL35; KLHL37; TP53I10; FLJ39259; FLJ57577
    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]
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    Genomic context

    Location :
    5q13
    Sequence :
    Chromosome: 5; NC_000005.9 (73923234..73937249, complement)
    See ENC1 in Epigenomics, MapViewer

    Chromosome 5 - NC_000005.9Genomic Context describing neighboring genes Neighboring gene 190 kDa guanine nucleotide exchange factor Neighboring gene uncharacterized LOC100289045 Neighboring gene hexosaminidase B (beta polypeptide) Neighboring gene G elongation factor, mitochondrial 2 Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    2. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    3. Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level. Wang XJ, et al. PLoS One, 2009. PMID 19424503.
    4. NRP/B mutations impair Nrf2-dependent NQO1 induction in human primary brain tumors. Seng S, et al. Oncogene, 2009 Jan 22. PMID 18981988.
    5. The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells. Seng S, et al. Cancer Res, 2007 Sep 15. PMID 17875699.

    See all (19) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation.
      Title: Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.
    2. NRP/B mutations impair Nrf2-dependent NQO1 induction in primary brain tumors.
      Title: NRP/B mutations impair Nrf2-dependent NQO1 induction in human primary brain tumors.
    3. 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.
      Title: The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells.
    4. results suggest that upregulation of ENC-1 contributes to the development of HCL and provides new information on the possible dysregulation of ENC-1 including expression of a novel antisense gene, ENC-1AS
      Title: Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O14682 P06400 RB1    HPRD  PubMed  
    O14682 P36897 TGFBR1    HPRD  PubMed  
    BioGRID:114079 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114079 BioGRID:111860 RB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114079 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:114079 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
    		  
    nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    ectoderm-neural cortex protein 1
    Names
    ectoderm-neural cortex protein 1
    kelch-like 35
    kelch-like protein 37
    p53-induced gene 10 protein
    nuclear matrix protein NRP/B
    tumor protein p53 inducible protein 10
    nuclear restricted protein, BTB domain-like (brain)
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256574.1 → NP_001243503.1  ectoderm-neural cortex protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC026405, BC000418, DA498140
      UniProtKB/Swiss-Prot
      O14682
      UniProtKB/TrEMBL
      Q53XS2
      Conserved Domains (4) summary
      PHA03098
      Location:41 – 566
      Blast Score: 427
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:149 – 248
      Blast Score: 247
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:36 – 140
      Blast Score: 290
      BTB; BTB/POZ domain
      cl02701
      Location:389 – 441
      Blast Score: 132
      Kelch_3; Galactose oxidase, central domain

    2. NM_001256575.1 → NP_001243504.1  ectoderm-neural cortex protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC026405, BC000418, DA032687
      UniProtKB/Swiss-Prot
      O14682
      UniProtKB/TrEMBL
      Q53XS2
      Conserved Domains (4) summary
      PHA03098
      Location:41 – 566
      Blast Score: 427
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:149 – 248
      Blast Score: 247
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:36 – 140
      Blast Score: 290
      BTB; BTB/POZ domain
      cl02701
      Location:389 – 441
      Blast Score: 132
      Kelch_3; Galactose oxidase, central domain

    3. NM_001256576.1 → NP_001243505.1  ectoderm-neural cortex protein 1 isoform 2

      Status: REVIEWED

      Description
      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.
      Source sequence(s)
      AC026405, AK295128, BT007392
      UniProtKB/TrEMBL
      B4DHJ1
      UniProtKB/TrEMBL
      E9PFU0
      UniProtKB/TrEMBL
      Q53XS2
      Conserved Domains (3) summary
      cl06652
      Location:76 – 175
      Blast Score: 249
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:1 – 71
      Blast Score: 176
      BTB; BTB/POZ domain
      cl02701
      Location:316 – 368
      Blast Score: 132
      Kelch_3; Galactose oxidase, central domain

    4. NM_003633.3 → NP_003624.1  ectoderm-neural cortex protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the most abundant transcript. Variants 1, 2, and 3 encode the same isoform (1).
      Source sequence(s)
      AC026405, BC000418
      Consensus CDS
      CCDS4021.1
      UniProtKB/Swiss-Prot
      O14682
      UniProtKB/TrEMBL
      Q53XS2
      Related
      ENSP00000306356, OTTHUMP00000128235, ENST00000302351, OTTHUMT00000219862
      Conserved Domains (4) summary
      PHA03098
      Location:41 – 566
      Blast Score: 427
      PHA03098; kelch-like protein; Provisional
      cl06652
      Location:149 – 248
      Blast Score: 247
      BACK; BTB And C-terminal Kelch
      cl02518
      Location:36 – 140
      Blast Score: 290
      BTB; BTB/POZ domain
      cl02701
      Location:389 – 441
      Blast Score: 132
      Kelch_3; Galactose oxidase, central domain

    RNA

    1. NR_046318.1 RNA Sequence

      Description
      Transcript Variant: This variant (5) is represented as non-coding because it lacks the coding exon found in variant 1.
      Source sequence(s)
      AC026405, DA785554

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000005.9 Reference GRCh37.p5 Primary Assembly

      Range
      73923234..73937249, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000137.1 Alternate HuRef

      Range
      69128055..69142065, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC026405.5 (86103..100121) None
    genomic CH471084.1 EAW95740.1
    mRNA AF005381.1 AAC64498.1
    mRNA AF010314.1 AAC39532.1
    mRNA AF059611.1 AAC26109.1
    mRNA AK096578.1 BAG53327.1
    mRNA AK295128.1 BAG58153.1
    mRNA AK299624.1 BAG61552.1
    mRNA AK312608.1 BAG35496.1
    mRNA AU120246.1 None
    mRNA AY049781.1 AAL15438.1
    mRNA BC000418.2 AAH00418.1
    mRNA BT007392.1 AAP36056.1
    mRNA DA032687.1 None
    mRNA DA498140.1 None
    other-genetic DQ891845.2 ABM82771.1
    other-genetic DQ895033.2 ABM85959.1
    other-genetic EU831625.1 ACE87225.1
    other-genetic EU831710.1 ACE86544.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14682.2 GenPept UniProtKB/Swiss-Prot:O14682
    Q53XS2 GenPept UniProtKB/TrEMBL:Q53XS2
    Q96L69 GenPept UniProtKB/TrEMBL:Q96L69
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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