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ENC1 (ectodermal-neural cortex (with BTB-like domain))

Written2007-06Shalom Avraham, Seyha Seng, Shuxian Jiang, Hava Karsenty Avraham
Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, 4 Blackfan Circle, Boston, MA 02115, USA.

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Identity

Alias_namesNRPB
ectodermal-neural cortex 1 (with BTB-like domain)
ectodermal-neural cortex 1 (with BTB domain)
Alias_symbol (synonym)PIG10
ENC-1
TP53I10
KLHL37
Other aliasCCL28
NRP/B (Nuclear Matrix Restricted Protein/Brain)
HGNC (Hugo) ENC1
LocusID (NCBI) 8507
Atlas_Id 40451
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 74627406 and ends at 74641424 bp from pter ( according to hg19-Feb_2009)  [Mapping ENC1.png]
 
  Mapping of human NRP/B/ENC1 to 5q12-13: Chromosome 5 content of each hybrid is shown as a solid bar. Deleted segments of Chromosome 5 are indicated to the right.
Fusion genes
(updated 2016)
ENC1 (5q13.3) / ENC1 (5q13.3)ENC1 (5q13.3) / GNAS (20q13.32)ENC1 (5q13.3) / LRBA (4q31.3)
MLLT11 (1q21.3) / ENC1 (5q13.3)PRKCSH (19p13.2) / ENC1 (5q13.3)

DNA/RNA

Description The NRP/B/ENC1 open reading frame is 1770 bp. The murine NRP/B/ENC1 gene consists of four exons interrupted by three introns that span 7.6 kb of DNA. The complete open reading frame is located in exon 3. Transcription is 5.5 kb of RNA.

Protein

 
  Nuclear and cytoplasmic expression of NRP/B/ENC1 were demonstrated by immunostaining with specific anti-NRP/B/ENC1 antibody. Nuclear NRP/B/ENC1: (A) Human normal adult brain (frontal cortex), (B) U87-MG human glioblastoma cells. (C) Cytoplasmic NRP/B/ENC1: primary GBM cells.
Description 589AA and 66130 Da. NRP/B/ENC1 is a member of a growing family of proteins that contains two major structural elements: A BTB/POZ domain in the N-terminus and kelch motif in the C-terminus [See above]. The BTB/POZ domain, consisting of approximately 115 amino acids is found in several members of the kelch family. It is involved in protein-protein interactions and mediates both dimer and heterodimer formation. The kelch domain includes six repeats (each containing about 50 amino acids), which are implicated in actin binding, protein folding and/or protein-protein interactions. NRP/B/ENC1 encodes an unusually evolutionarily conserved protein between mouse and human.
Expression NRP/B/ENC1 is expressed in the nervous system. NRP/B/ENC1 is expressed mostly in primary neurons, but not in primary astrocytes. NRP/B/ENC1 mRNA and protein expression were detected abundantly and observed in human primary brain tumors, including glioblastoma multiformae and astrocytoma, and in human neuroblastoma cell lines (IMR32, SK-N-MC, SK-N-SH), in glioblastoma cell lines (A172, T98G, U87-MG, U118-MG, U138-MG and U373-MG), and in neuroglioma (H4) and astrocytoma cell lines (CCF-STTG1 and SW1088).
Localisation Nuclear (Glioblastoma, U87-MG) and Cytosolic (Glioblastoma, GBM).
Function Evidence suggests that NRP/B/ENC1 is involved in multiple cell processes, including nervous system development, neuronal and adipocyte differentiation and brain tumorigenesis. NRP/B/ENC1 functions as an actin-binding protein that may be important in the organization of the actin cytoskeleton during neural fate specification and nervous system development, and plays a crucial role in the regulation of neuronal process formation via association with the hypophosphorylated form of retinoblastoma protein (p110RB).
Homology NRP/B/ENC1 shares significant homology with the "kelch" repeats found in several kelch-related genes, including the Drosophila gene which is essential for oogenesis.

Mutations

Note p53-induced protein 10 (PIG10) was identified in DLD1 colon cancer cells. PIG10 contains multiple mutations and deletions, and is a variant form of NRP/B/ENC1. It has also been observed that there are a number of mutations and deletions occurred on the BTB, IVS and Kelch domains of NRP/B/ENC1 in human brain tumor cell lines and human brain tumors (GBM) (see tables below). The mutations on the Kelch domain are involved in brain tumor development.
 

Implicated in

Note
  
Entity Brain tumor
Note Little is known
Disease Mutations of NRP/B/ENC1 were reported to be related to brain tumor development. NRP/B/ENC1 has been implicated in nervous system and neuronal differentiation, and these mutations of NRP/B/ENC1 may lead to neuropathology.
Oncogenesis The role of NRP/B/ENC1 in oncogenesis has been established. Evidence suggests that both amplification and alteration of NRP/B/ENC1 may lead to brain tumor development.
  

Bibliography

The BTB/POZ domain: a new protein-protein interaction motif common to DNA- and actin-binding proteins.
Albagli O, Dhordain P, Deweindt C, Lecocq G, Leprince D
Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research. 1995 ; 6 (9) : 1193-1198.
PMID 8519696
 
The POZ domain: a conserved protein-protein interaction motif.
Bardwell VJ, Treisman R
Genes & development. 1994 ; 8 (14) : 1664-1677.
PMID 7958847
 
A family of Xenopus BTB-Kelch repeat proteins related to ENC-1: new markers for early events in floorplate and placode development.
Haigo SL, Harland RM, Wallingford JB
Gene expression patterns : GEP. 2003 ; 3 (5) : 669-674.
PMID 12972004
 
Assignment of the ectodermal-neural cortex 1 gene (Enc1) to mouse chromosome band 13D1 by fluorescence in situ hybridization.
Hernandez M, Andres-Barquin PJ, Israel MA
Cytogenetics and cell genetics. 2000 ; 89 (3-4) : 158-159.
PMID 10965111
 
Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization.
Hernandez MC, Andres-Barquin PJ, Kuo WL, Israel MA
Cytogenetics and cell genetics. 1999 ; 87 (1-2) : 89-90.
PMID 10640818
 
The BTB domain of the nuclear matrix protein NRP/B is required for neurite outgrowth.
Kim TA, Jiang S, Seng S, Cha K, Avraham HK, Avraham S
Journal of cell science. 2005 ; 118 (Pt 23) : 5537-5548.
PMID 16306221
 
NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation.
Kim TA, Lim J, Ota S, Raja S, Rogers R, Rivnay B, Avraham H, Avraham S
The Journal of cell biology. 1998 ; 141 (3) : 553-566.
PMID 9566959
 
Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors.
Kim TA, Ota S, Jiang S, Pasztor LM, White RA, Avraham S
Gene. 2000 ; 255 (1) : 105-116.
PMID 10974570
 
Genetic alterations of the NRP/B gene are associated with human brain tumors.
Liang XQ, Avraham HK, Jiang S, Avraham S
Oncogene. 2004 ; 23 (35) : 5890-5900.
PMID 15208678
 
A model for p53-induced apoptosis.
Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B
Nature. 1997 ; 389 (6648) : 300-305.
PMID 9305847
 
kelch encodes a component of intercellular bridges in Drosophila egg chambers.
Xue F, Cooley L
Cell. 1993 ; 72 (5) : 681-693.
PMID 8453663
 
Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton.
von Bülow M, Heid H, Hess H, Franke WW
Experimental cell research. 1995 ; 219 (2) : 407-413.
PMID 7641791
 

Citation

This paper should be referenced as such :
Avraham, S ; Seng, S ; Jiang, S ; Avraham, HK
ENC1 (ectodermal-neural cortex (with BTB-like domain))
Atlas Genet Cytogenet Oncol Haematol. 2008;12(1):5-7.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/NRPBID40451ch5q12.html


External links

Nomenclature
HGNC (Hugo)ENC1   3345
Cards
AtlasNRPBID40451ch5q12
Entrez_Gene (NCBI)ENC1  8507  ectodermal-neural cortex 1
AliasesCCL28; ENC-1; KLHL35; KLHL37; 
NRPB; PIG10; TP53I10
GeneCards (Weizmann)ENC1
Ensembl hg19 (Hinxton)ENSG00000171617 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171617 [Gene_View]  chr5:74627406-74641424 [Contig_View]  ENC1 [Vega]
ICGC DataPortalENSG00000171617
TCGA cBioPortalENC1
AceView (NCBI)ENC1
Genatlas (Paris)ENC1
WikiGenes8507
SOURCE (Princeton)ENC1
Genetics Home Reference (NIH)ENC1
Genomic and cartography
GoldenPath hg38 (UCSC)ENC1  -     chr5:74627406-74641424 -  5q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ENC1  -     5q13.3   [Description]    (hg19-Feb_2009)
EnsemblENC1 - 5q13.3 [CytoView hg19]  ENC1 - 5q13.3 [CytoView hg38]
Mapping of homologs : NCBIENC1 [Mapview hg19]  ENC1 [Mapview hg38]
OMIM605173   
Gene and transcription
Genbank (Entrez)AF005381 AF010314 AF059611 AK096578 AK295128
RefSeq transcript (Entrez)NM_001256574 NM_001256575 NM_001256576 NM_003633
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ENC1
Cluster EST : UnigeneHs.744844 [ NCBI ]
CGAP (NCI)Hs.744844
Alternative Splicing GalleryENSG00000171617
Gene ExpressionENC1 [ NCBI-GEO ]   ENC1 [ EBI - ARRAY_EXPRESS ]   ENC1 [ SEEK ]   ENC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ENC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8507
GTEX Portal (Tissue expression)ENC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14682   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14682  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14682
Splice isoforms : SwissVarO14682
PhosPhoSitePlusO14682
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (EBI)BACK    BTB-kelch_protein    BTB/POZ_dom    ENC1    Kelch-typ_b-propeller    Kelch_1    SKP1/BTB/POZ   
Domain families : Pfam (Sanger)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
Domain families : Pfam (NCBI)pfam07707    pfam00651    pfam01344   
Domain families : Smart (EMBL)BACK (SM00875)  BTB (SM00225)  Kelch (SM00612)  
Conserved Domain (NCBI)ENC1
DMDM Disease mutations8507
Blocks (Seattle)ENC1
SuperfamilyO14682
Human Protein AtlasENSG00000171617
Peptide AtlasO14682
HPRD05529
IPIIPI00023188   IPI00968218   IPI00967915   IPI00967423   
Protein Interaction databases
DIP (DOE-UCLA)O14682
IntAct (EBI)O14682
FunCoupENSG00000171617
BioGRIDENC1
STRING (EMBL)ENC1
ZODIACENC1
Ontologies - Pathways
QuickGOO14682
Ontology : AmiGOnuclear chromatin  actin binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoskeleton  multicellular organism development  nervous system development  proteasomal ubiquitin-independent protein catabolic process  positive regulation of neuron projection development  nuclear matrix  protein ubiquitination  negative regulation of translation  Cul3-RING ubiquitin ligase complex  neuronal cell body  
Ontology : EGO-EBInuclear chromatin  actin binding  protein binding  nucleus  nucleoplasm  nucleolus  cytoplasm  cytoskeleton  multicellular organism development  nervous system development  proteasomal ubiquitin-independent protein catabolic process  positive regulation of neuron projection development  nuclear matrix  protein ubiquitination  negative regulation of translation  Cul3-RING ubiquitin ligase complex  neuronal cell body  
NDEx NetworkENC1
Atlas of Cancer Signalling NetworkENC1
Wikipedia pathwaysENC1
Orthology - Evolution
OrthoDB8507
GeneTree (enSembl)ENSG00000171617
Phylogenetic Trees/Animal Genes : TreeFamENC1
HOVERGENO14682
HOGENOMO14682
Homologs : HomoloGeneENC1
Homology/Alignments : Family Browser (UCSC)ENC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENC1
dbVarENC1
ClinVarENC1
1000_GenomesENC1 
Exome Variant ServerENC1
ExAC (Exome Aggregation Consortium)ENC1 (select the gene name)
Genetic variants : HAPMAP8507
Genomic Variants (DGV)ENC1 [DGVbeta]
DECIPHERENC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisENC1 
Mutations
ICGC Data PortalENC1 
TCGA Data PortalENC1 
Broad Tumor PortalENC1
OASIS PortalENC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ENC1
DgiDB (Drug Gene Interaction Database)ENC1
DoCM (Curated mutations)ENC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENC1 (select a term)
intoGenENC1
NCG5 (London)ENC1
Cancer3DENC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605173   
Orphanet
MedgenENC1
Genetic Testing Registry ENC1
NextProtO14682 [Medical]
TSGene8507
GENETestsENC1
Target ValidationENC1
Huge Navigator ENC1 [HugePedia]
snp3D : Map Gene to Disease8507
BioCentury BCIQENC1
ClinGenENC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8507
Chemical/Pharm GKB GenePA27782
Clinical trialENC1
Miscellaneous
canSAR (ICR)ENC1 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENC1
EVEXENC1
GoPubMedENC1
iHOPENC1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 30 11:13:44 CEST 2017

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