ENC1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Ectoderm-neural cortex protein 1 is a protein that in humans is encoded by the ENC1 gene.

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]

Interactions

ENC1 has been shown to interact with Retinoblastoma protein.

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. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping

Enc1 knockout mouse phenotype

Characteristic	Phenotype
All data available at.
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

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.