- Also known as
- NRPB; CCL28; ENC-1; PIG10; KLHL35; KLHL37; TP53I10
- Summary
- This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
- Expression
- Biased expression in brain (RPKM 180.1), gall bladder (RPKM 11.8) and 4 other tissues See more
- Orthologs
- Preferred Names
- ectoderm-neural cortex protein 1
- Names
- ectodermal-neural cortex 1 (with BTB domain)
- ectodermal-neural cortex 1 (with BTB-like domain)
- kelch-like 35
- kelch-like family member 37
- kelch-like protein 37
- nuclear matrix protein NRP/B
- nuclear restricted protein, BTB domain-like (brain)
- p53-induced gene 10 protein
- tumor protein p53 inducible protein 10
-
NM_001256574.1 → NP_001243503.1 ectoderm-neural cortex protein 1 isoform 1
See identical proteins and their annotated locations for NP_001243503.1
ORIGIN 1 msvsvhenrk srassgsini ylfhkssyad svlthlnllr qqrlftdvll hagnrtfpch 61 ravlaacsry feamfsgglk esqdsevnfd nsihpevlel lldyayssrv iineenaesl 121 leagdmlefq dirdacaefl eknlhptncl gmlllsdahq ctklyelswr mclsnfqtir 181 knedflqlpq dmvvqllsse eletederlv yesainwisy dlkkrycylp ellqtvrlal 241 lpaiylmenv ameelitkqr kskeiveeai rcklkilqnd gvvtslcarp rktghalfll 301 ggqtfmcdkl ylvdqkakei ipkadipspr kefsacaigc kvyitggrgs engvskdvwv 361 ydtlheewsk aapmlvarfg hgsaelkhcl yvvgghtaat gclpaspsvs lkqvehydpt 421 inkwtmvapl regvsnaavv saklklfafg gtsvshdklp kvqcydqcen rwtvpatcpq 481 pwrytaaavl gnqifimggd tefsacsayk fnsetyqwtk vgdvtakrms chavasgnkl 541 yvvggyfgiq rcktldcydp tldvwnsitt vpysliptaf vstwkhlps
LxxLLKStatus: REVIEWED- Description
- Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
- Source sequence(s)
- AC026405, BC000418, DA498140
- Consensus CDS
- CCDS4021.1
- UniProtKB/Swiss-Prot
- O14682
- UniProtKB/TrEMBL
- Q53XS2
- Related
- ENSP00000479101.1, ENST00000618628.4
- Conserved Domains (2) summary
-
- sd00038
Location:330 → 374 - Kelch; KELCH repeat [structural motif]
- cl28614
Location:48 → 566 - BTB; Broad-Complex, Tramtrack and Bric a brac
- sd00038
- Up-regulation of the ectodermal-neural cortex 1 (ENC1) gene, a downstream target of the beta-catenin/T-cell factor complex, in colorectal carcinomas. Fujita M, et al. Cancer Res, 2001 Nov 1. PMID 11691783
- Genomic organization, chromosomal localization and regulation of expression of the neuronal nuclear matrix protein NRP/B in human brain tumors. Kim TA, et al. Gene, 2000 Sep 5. PMID 10974570
- Transient induction of ENC-1, a Kelch-related actin-binding protein, is required for adipocyte differentiation. Zhao L, et al. J Biol Chem, 2000 Jun 2. PMID 10828068In an attempt to study molecules that play a regulatory role early in adipocyte differentiation, we identified by differential display ENC-1, a Drosophila kelch-related protein. ENC-1 colocalizes with actin filaments. ENC-1 is expressed in adipose tissue, specifically in the adipose-derived stroma-vascular fraction. ENC-1 mRNA levels are transiently increased 8-12-fold early in in vitro adipocyte differentiation of primary cells of the adipose-derived stroma-vascular fraction and of 3T3-L1 cells. Treatment with the adipogenic inducers dexamethasone and methylisobutylxanthine causes an increase in ENC-1 mRNA levels specifically in preadipocytes, and methylisobutylxanthine is the main effector of ENC-1 expression. The induction of ENC-1 precedes expression of the transcription factors, peroxisome proliferator-activated receptor (PPARgamma) and CCAAT/enhancer-binding protein (C/EBPalpha), and other adipocyte markers including adipocyte fatty acid-binding protein. The ENC-1 induction correlates with the subsequent differentiation of primary stroma-vascular cells into adipocytes. Furthermore, decreasing the endogenous ENC-1 levels by stable antisense transfection, thereby preventing the transient induction, effectively inhibits 3T3-L1 adipocyte differentiation. Overall, these studies indicate that ENC-1, an actin-binding protein, plays a regulatory role early in adipocyte differentiation when cytoskeletal reorganization and cell shape change from fibroblastic preadipocytes to spherical adipocytes occur.
- Assignment of the ectodermal-neural cortex 1 gene (ENC1) to human chromosome band 5q13 by in situ hybridization. Hernandez MC, et al. Cytogenet Cell Genet, 1999. PMID 10640818
- Cloning of human ENC-1 and evaluation of its expression and regulation in nervous system tumors. Hernandez MC, et al. Exp Cell Res, 1998 Aug 1. PMID 9683534We recently identified and characterized a novel murine gene, ENC-1, that is expressed primarily in the nervous system and encodes an actin-binding protein. To gain insight into a potential role for ENC-1 gene in the processes of cell differentiation and malignant transformation in the human nervous system, we first cloned and characterized the human homologue of ENC-1. The human ENC-1 gene appeared to be highly expressed in adult brain and spinal cord, and in a number of cell lines derived from nervous system tumors we detected low steady-state levels of ENC-1 mRNA. We used a neuroblastoma differentiation model, the retinoic acid-induced neuronal differentiation of SMS-KCNR cells, to study the regulation of the ENC-1 gene during neural crest cell differentiation. We found that the expression of ENC-1 increased dramatically in the differentiated SMS-KCNR cells as compared to control undifferentiated cells. These results suggest that ENC-1 expression plays a role during differentiation of neural crest cells and may be down regulated in neuroblastoma tumors.
Inga kommentarer:
Skicka en kommentar