Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Other namesCCL28
ENC-1
NRPB
NRP/B (Nuclear Matrix Restricted Protein/Brain)
PIG10
TP53I10
HGNC (Hugo) ENC1
LocusID (NCBI) 8507
Location 5q12-13
Location_base_pair Starts at 73923231 and ends at 73937249 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  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.

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

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.
  

External links

Nomenclature
HGNC (Hugo)ENC1   3345
Entrez_Gene (NCBI)ENC1  8507  ectodermal-neural cortex 1 (with BTB-like domain)
Cards
AtlasNRPBID40451ch5q12
GeneCards (Weizmann)ENC1
Ensembl (Hinxton)ENSG00000171617 [Gene_View]  chr5:73923231-73937249 [Contig_View]  ENC1 [Vega]
AceView (NCBI)ENC1
Genatlas (Paris)ENC1
euGene (Indiana)8507
SOURCE (Stanford)NM_001256574 NM_001256575 NM_001256576 NM_003633
Genomic and cartography
GoldenPath (UCSC)ENC1  -     chr5:73923231-73937249 -  5q13   [Description]    (hg19-Feb_2009)
EnsemblENC1 - 5q13 [CytoView]
Mapping of homologs : NCBIENC1 [Mapview]
OMIM605173   
Gene and transcription
Genbank (Entrez)AF005381 AF010314 AF059611 AK096578 AK295128
RefSeq transcript (SRS)NM_001256574 NM_001256575 NM_001256576 NM_003633
RefSeq transcript (Entrez)NM_001256574 NM_001256575 NM_001256576 NM_003633
RefSeq genomic (SRS)AC_000137 NC_000005 NT_006713 NW_001838951
RefSeq genomic (Entrez)AC_000137 NC_000005 NT_006713 NW_001838951
Consensus coding sequences : CCDS (NCBI)ENC1
Cluster EST : UnigeneHs.104925 [ SRS ] Hs.104925 [ NCBI ]
Alternative Splicing : Fast-db (Paris)5949
Alternative Splicing GalleryENSG00000171617
Gene ExpressionENC1 [ NCBI-GEO ]   ENC1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14682 (SRS) O14682 (Uniprot)
With graphics : InterProO14682
Splice isoforms : SwissVarO14682(Swissvar)
Domaine pattern : Prosite (SRS)BTB (PS50097)   
Domaine pattern : Prosite (Expaxy)BTB (PS50097)   
Domains : Interpro (SRS)BACK    BTB/POZ-like    BTB/POZ_fold    BTB_POZ    Kelch-like_gigaxonin    Kelch-typ_b-propeller    Kelch_1   
Domains : Interpro (EBI)BACK    BTB/POZ-like    BTB/POZ_fold    BTB_POZ    Kelch-like_gigaxonin    Kelch-typ_b-propeller    Kelch_1   
Related proteins : CluSTrO14682
Domain families : Pfam (SRS)BACK (PF07707)    BTB (PF00651)    Kelch_1 (PF01344)   
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)  
Blocks (Seattle)O14682
Human Protein AtlasENSG00000171617
HPRD05529
IPIIPI00023188   IPI00968218   IPI00967915   IPI00967423   
Protein Interaction databases
DIP (DOE-UCLA)O14682
IntAct (EBI)O14682
FunCoupENSG00000171617
REACTOMEENC1
BioGRIDENC1
InParanoidO14682
Interologous Interaction database O14682
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ENC1
SNP (GeneSNP Utah)ENC1
SNP : HGBaseENC1
Genetic variants : HAPMAPENC1
Somatic Mutations in Cancer : COSMICENC1 
CONAN: Copy Number AnalysisENC1 
Mutations and Diseases : HGMDENC1
OMIM605173   
GENETests605173   
Disease Genetic AssociationENC1
Huge Navigator ENC1 [HugePedia]  ENC1 [HugeCancerGEM]
Genomic VariantsENC1
snp3D : Map Gene to Disease8507
General knowledge
Homologs : HomoloGeneENC1
Homology/Alignments : Family Browser (UCSC)ENC1
Phylogenetic Trees/Animal Genes : TreeFamENC1
Chemical/Protein Interactions : CTD8507
Chemical/Pharm GKB GenePA27782
Clinical trialENC1
Cancer Resource (Charite)ENSG00000171617
Ontology : AmiGOactin binding  nucleus  cytoplasm  cytoskeleton  multicellular organismal development  nervous system development  nuclear matrix  
Ontology : EGO-EBIactin binding  nucleus  cytoplasm  cytoskeleton  multicellular organismal development  nervous system development  nuclear matrix  
Other databases
Probes
Probes : ImagenesENC1 Related clones (RZPD - Berlin)
Litterature
PubMed19 Pubmed reference(s) in Entrez
PubGeneENC1
iHOPENC1

Bibliography

kelch encodes a component of intercellular bridges in Drosophila egg chambers.
Xue F, Cooley L
Cell. 1993 ; 72 (5) : 681-693.
PMID 8453663
 
The POZ domain: a conserved protein-protein interaction motif.
Bardwell VJ, Treisman R
Genes & development. 1994 ; 8 (14) : 1664-1677.
PMID 7958847
 
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
 
Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton.
von Bˆºlow M, Heid H, Hess H, Franke WW
Experimental cell research. 1995 ; 219 (2) : 407-413.
PMID 7641791
 
ENC-1: a novel mammalian kelch-related gene specifically expressed in the nervous system encodes an actin-binding protein.
Hernandez MC, Andres-Barquin PJ, Martinez S, Bulfone A, Rubenstein JL, Israel MA
The Journal of neuroscience : the official journal of the Society for Neuroscience. 1997 ; 17 (9) : 3038-3051.
PMID 9096139
 
A model for p53-induced apoptosis.
Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B
Nature. 1997 ; 389 (6648) : 300-305.
PMID 9305847
 
Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors.
Hernandez MC, Andres-Barquin PJ, Holt I, Israel MA
Experimental cell research. 1998 ; 242 (2) : 470-477.
PMID 9683534
 
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
 
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
 
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
 
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
 
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
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written06-2007Shalom Avraham, Seyha Seng, Shuxian Jiang, Hava Karsenty Avraham
Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, 4 Blackfan Circle, Boston, MA 02115, USA.

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. June 2007 .
URL : http://AtlasGeneticsOncology.org/Genes/NRPBID40451ch5q12.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/38462/1/06-2007-NRPBID40451ch5q12.pdf   [ Bibliographic record ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Apr 28 15:07:57 CEST 2012

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.