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

2007-06-01   Shalom Avraham , Seyha Seng , Shuxian Jiang , Hava Karsenty Avraham 

Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, 4 Blackfan Circle, Boston, MA 02115, USA.

Identity

HGNC
LOCATION
5q13.3
IMAGE
Atlas Image
LEGEND
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.
LOCUSID
ALIAS
CCL28,ENC-1,KLHL35,KLHL37,NRPB,PIG10,TP53I10
FUSION GENES

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.

Proteins

Atlas Image
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.
Atlas Image

Implicated in

Entity name
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

Pubmed IDLast YearTitleAuthors
85196961995The BTB/POZ domain: a new protein-protein interaction motif common to DNA- and actin-binding proteins.Albagli O et al
79588471994The POZ domain: a conserved protein-protein interaction motif.Bardwell VJ et al
129720042003A family of Xenopus BTB-Kelch repeat proteins related to ENC-1: new markers for early events in floorplate and placode development.Haigo SL et al
109651112000Assignment of the ectodermal-neural cortex 1 gene (Enc1) to mouse chromosome band 13D1 by fluorescence in situ hybridization.Hernandez M et al
106408181999Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization.Hernandez MC et al
163062212005The BTB domain of the nuclear matrix protein NRP/B is required for neurite outgrowth.Kim TA et al
95669591998NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation.Kim TA et al
109745702000Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors.Kim TA et al
152086782004Genetic alterations of the NRP/B gene are associated with human brain tumors.Liang XQ et al
93058471997A model for p53-induced apoptosis.Polyak K et al
84536631993kelch encodes a component of intercellular bridges in Drosophila egg chambers.Xue F et al
76417911995Molecular nature of calicin, a major basic protein of the mammalian sperm head cytoskeleton.von Bülow M et al

Other Information

Locus ID:

NCBI: 8507
MIM: 605173
HGNC: 3345
Ensembl: ENSG00000171617

Variants:

dbSNP: 8507
ClinVar: 8507
TCGA: ENSG00000171617
COSMIC: ENC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171617ENST00000302351O14682
ENSG00000171617ENST00000302351Q53XS2
ENSG00000171617ENST00000508331D6R9D7
ENSG00000171617ENST00000510316O14682
ENSG00000171617ENST00000537006O14682
ENSG00000171617ENST00000537006Q53XS2
ENSG00000171617ENST00000618628O14682
ENSG00000171617ENST00000618628Q53XS2
ENSG00000171617ENST00000651128O14682
ENSG00000171617ENST00000651128Q53XS2

Expression (GTEx)

0
50
100
150
200
250
300
350

References

Pubmed IDYearTitleCitations
284414262017Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data.24
266373262016ENC1 Modulates the Aggregation and Neurotoxicity of Mutant Huntingtin Through p62 Under ER Stress.10
178756992007The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells.8
194245032009Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level.8
154591802004Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.7
189819882009NRP/B mutations impair Nrf2-dependent NQO1 induction in human primary brain tumors.7
301259942019Low expression of ENC1 predicts a favorable prognosis in patients with ovarian cancer.2

Citation

Shalom Avraham ; Seyha Seng ; Shuxian Jiang ; Hava Karsenty Avraham

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

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/40451/enc1