ENC1

Ectodermal-neural cortex 1 (with BTB domain)
Identifiers
Symbols	ENC1 ; CCL28; ENC-1; KLHL35; KLHL37; NRPB; PIG10; TP53I10
External IDs	OMIM: 605173 MGI: 109610 HomoloGene: 2694 GeneCards: ENC1 Gene
Gene ontology Molecular function • actin binding • protein binding Cellular component • nuclear chromatin • nucleus • nucleoplasm • nucleolus • cytoplasm • cytoskeleton • nuclear matrix • Cul3-RING ubiquitin ligase complex • neuronal cell body Biological process • multicellular organismal development • nervous system development • proteasomal ubiquitin-independent protein catabolic process • positive regulation of neuron projection development • protein ubiquitination • negative regulation of translation Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	8507	13803
Ensembl	ENSG00000171617	ENSMUSG00000041773
UniProt	O14682	O35709
RefSeq (mRNA)	NM_001256574	NM_007930
RefSeq (protein)	NP_001243503	NP_031956
Location (UCSC)	Chr 5: 74.63 – 74.64 Mb	Chr 13: 97.24 – 97.25 Mb
PubMed search

Ectoderm-neural cortex protein 1 is a protein that in humans is encoded by the ENC1 gene.^[1][2][3]

Function

DNA damage and/or hyperproliferative signals activate wildtype p53 tumor suppressor protein (TP53; MIM 191170), inducing cell cycle arrest or apoptosis. Mutations that inactivate p53 occur in 50% of all tumors. Polyak et al. (1997) used serial analysis of gene expression (SAGE) to evaluate cellular mRNA levels in a colorectal cancer cell line transfected with p53. Of 7,202 transcripts identified, only 14 were expressed at levels more than 10-fold higher in p53-expressing cells than in control cells. Polyak et al. (1997) termed these genes 'p53-induced genes,' or PIGs, several of which were predicted to encode redox-controlling proteins. They noted that reactive oxygen species (ROS) are potent inducers of apoptosis. Flow cytometric analysis showed that p53 expression induces ROS production, which increases as apoptosis progresses under some conditions. The authors stated that the PIG10 gene, also called ENC1, encodes an actin-binding protein.[supplied by OMIM]^[3]

Interactions

ENC1 has been shown to interact with Retinoblastoma protein.^[2]

Model organisms

Model organisms have been used in the study of ENC1 function. A conditional knockout mouse line called Enc1^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[4] Male and female animals underwent a standardized phenotypic screen^[5] to determine the effects of deletion.^[6][7][8][9] Additional screens performed: - In-depth immunological phenotyping^[10]

Enc1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[5][10]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Abnormal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal

References

1. Polyak K, Xia Y, Zweier JL, Kinzler KW, Vogelstein B (Sep 1997). "A model for p53-induced apoptosis". Nature 389 (6648): 300–5. doi:10.1038/38525. PMID 9305847.
2. Kim TA, Lim J, Ota S, Raja S, Rogers R, Rivnay B, Avraham H, Avraham S (May 1998). "NRP/B, a novel nuclear matrix protein, associates with p110(RB) and is involved in neuronal differentiation". The Journal of Cell Biology 141 (3): 553–66. doi:10.1083/jcb.141.3.553. PMC 2132755. PMID 9566959.
3. "Entrez Gene: ENC1 ectodermal-neural cortex (with BTB-like domain)".
4. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
5. "International Mouse Phenotyping Consortium".
6. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
7. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
8. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
9. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
10. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

• Hernandez MC, Andres-Barquin PJ, Holt I, Israel MA (Aug 1998). "Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors". Experimental Cell Research 242 (2): 470–7. doi:10.1006/excr.1998.4109. PMID 9683534.
• Hernandez MC, Andres-Barquin PJ, Kuo WL, Israel MA (2000). "Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization". Cytogenetics and Cell Genetics 87 (1-2): 89–90. doi:10.1159/000015398. PMID 10640818.
• Zhao L, Gregoire F, Sul HS (Jun 2000). "Transient induction of ENC-1, a Kelch-related actin-binding protein, is required for adipocyte differentiation". The Journal of Biological Chemistry 275 (22): 16845–50. doi:10.1074/jbc.275.22.16845. PMID 10828068.
• Kim TA, Ota S, Jiang S, Pasztor LM, White RA, Avraham S (Sep 2000). "Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors". Gene 255 (1): 105–16. doi:10.1016/S0378-1119(00)00297-3. PMID 10974570.
• Fujita M, Furukawa Y, Tsunoda T, Tanaka T, Ogawa M, Nakamura Y (Nov 2001). "Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas". Cancer Research 61 (21): 7722–6. PMID 11691783.
• Hammarsund M, Lerner M, Zhu C, Merup M, Jansson M, Gahrton G, Kluin-Nelemans H, Einhorn S, Grandér D, Sangfelt O, Corcoran M (Dec 2004). "Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia". Human Molecular Genetics 13 (23): 2925–36. doi:10.1093/hmg/ddh315. PMID 15459180.
• Barrios-Rodiles M, Brown KR, Ozdamar B, Bose R, Liu Z, Donovan RS, Shinjo F, Liu Y, Dembowy J, Taylor IW, Luga V, Przulj N, Robinson M, Suzuki H, Hayashizaki Y, Jurisica I, Wrana JL (Mar 2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Seng S, Avraham HK, Jiang S, Yang S, Sekine M, Kimelman N, Li H, Avraham S (Sep 2007). "The nuclear matrix protein, NRP/B, enhances Nrf2-mediated oxidative stress responses in breast cancer cells". Cancer Research 67 (18): 8596–604. doi:10.1158/0008-5472.CAN-06-3785. PMID 17875699.