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

Identity

Other namesCCL28
ENC-1
NRPB
NRP/B (Nuclear Matrix Restricted Protein/Brain)
PIG10
TP53I10
Hugo ENC1
Location 5q12-13
 
  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
HugoENC1
GDBENC1
Entrez_GeneENC1  8507  ectodermal-neural cortex (with BTB-like domain)
Cards
AtlasNRPBID40451ch5q12
GeneCardsENC1
EnsemblENC1 [Search_View]   ENSG00000171617 [Gene_View]
GenatlasENC1
GeneLynxENC1
eGenomeENC1
euGene8507
Genomic and cartography
GoldenPathENC1  -     chr5:73958991-73972273 -  5q12-q13.3   [Description]    (hg18-Mar_2006)
EnsemblENC1 - 5q12-q13.3 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneENC1
Gene and transcription
GenbankAF005381 [ ENTREZ ]
GenbankAF010314 [ ENTREZ ]
GenbankAF059611 [ ENTREZ ]
GenbankAK096578 [ ENTREZ ]
GenbankAY049781 [ ENTREZ ]
RefSeqNM_003633 [ SRS ]    NM_003633 [ ENTREZ ]
RefSeqAC_000048 [ SRS ]    AC_000048 [ ENTREZ ]
RefSeqNC_000005 [ SRS ]    NC_000005 [ ENTREZ ]
RefSeqNT_006713 [ SRS ]    NT_006713 [ ENTREZ ]
RefSeqNW_922729 [ SRS ]    NW_922729 [ ENTREZ ]
AceViewENC1 AceView - NCBI
UnigeneHs.104925 [ SRS ]    Hs.104925 [ NCBI ]     HS104925 [ spliceNest ]
Fast-db5949 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtO14682 [ SRS]    O14682 [ EXPASY ]     O14682 [ INTERPRO ]
PrositePS50097 BTB [ SRS ]    PS50097 BTB [ Expasy ]
InterproIPR011705 BACK [ SRS ]    IPR011705 BACK [ EBI ]
InterproIPR000210 BTB/POZ-like [ SRS ]    IPR000210 BTB/POZ-like [ EBI ]
InterproIPR013069 BTB_POZ [ SRS ]    IPR013069 BTB_POZ [ EBI ]
InterproIPR015916 Gal_Oxidase_b-propeller [ SRS ]    IPR015916 Gal_Oxidase_b-propeller [ EBI ]
InterproIPR015915 Kelch-typ_b-propeller [ SRS ]    IPR015915 Kelch-typ_b-propeller [ EBI ]
InterproIPR006652 Kelch_1 [ SRS ]    IPR006652 Kelch_1 [ EBI ]
InterproIPR013089 Kelch_related [ SRS ]    IPR013089 Kelch_related [ EBI ]
CluSTrO14682
PfamPF07707 BACK [ SRS ]    PF07707 BACK [ Sanger ]    pfam07707 [ NCBI-CDD ]
PfamPF00651 BTB [ SRS ]    PF00651 BTB [ Sanger ]    pfam00651 [ NCBI-CDD ]
PfamPF01344 Kelch_1 [ SRS ]    PF01344 Kelch_1 [ Sanger ]    pfam01344 [ NCBI-CDD ]
SmartSM00225 BTB [EMBL]
SmartSM00612 Kelch [EMBL]
BlocksO14682
HPRD05529
Protein Interaction databases
DIPO14682
IntActO14682
Polymorphism : SNP, mutations, diseases
OMIM605173    [ map ]   
GENECLINICS605173
SNPENC1 [dbSNP-NCBI]  
SNPNM_003633 [SNP-NCI]  
SNPENC1 [GeneSNPs - Utah]  ENC1] [HGBASE - SRS]
HAPMAPENC1 [HAPMAP]  
COSMICENC1 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDENC1
General knowledge
Family BrowserENC1 [UCSC Family Browser]
SOURCENM_003633
SMDHs.104925
SAGEHs.104925
GOactin binding [Amigo]  actin binding
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOcytoplasm [Amigo]  cytoplasm
GOcytoskeleton [Amigo]  cytoskeleton
GOubiquitin cycle [Amigo]  ubiquitin cycle
GOmulticellular organismal development [Amigo]  multicellular organismal development
GOnervous system development [Amigo]  nervous system development
GOnuclear matrix [Amigo]  nuclear matrix
PubGeneENC1
TreeFamENC1
CTD8507 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeENC1 Related clones (RZPD - Berlin)
PubMed
PubMed14 Pubmed reference(s) in LocusLink

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

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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

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 2 08:25:38 2008


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