ENC-1 (KLHL37) (5q13.3) Tumamatrixproteiini aivoissa, rajoittaa NRF2:n translatoitumista.

https://www.ncbi.nlm.nih.gov/gene/8507

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

General protein information

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

1. NM_001256576.1 → NP_001243505.1  ectoderm-neural cortex protein 1 isoform 2
   
   Status: REVIEWED

   ORIGIN      
           1 mfsgglkesq dsevnfdnsi hpevlellld yayssrviin eenaesllea gdmlefqdir
          61 dacaeflekn lhptnclgml llsdahqctk lyelswrmcl snfqtirkne dflqlpqdmv
         121 vqllsseele tederlvyes ainwisydlk krycylpell qtvrlallpa iylmenvame
         181 elitkqrksk eiveeairck lkilqndgvv tslcarprkt ghalfllggq tfmcdklylv
         241 dqkakeiipk adipsprkef sacaigckvy itggrgseng vskdvwvydt lheewskaap
         301 mlvarfghgs aelkhclyvv gghtaatgcl paspsvslkq vehydptink wtmvaplreg
         361 vsnaavvsak lklfafggts vshdklpkvq cydqcenrwt vpatcpqpwr ytaaavlgnq
         421 ifimggdtef sacsaykfns etyqwtkvgd vtakrmscha vasgnklyvv ggyfgiqrck
         481 tldcydptld vwnsittvpy sliptafvst wkhlps
   //

   
   

   Description

   Transcript Variant: This variant (4) uses an alternate splice site, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

   Conserved Domains (5) summary

   smart00612
   Location:316 → 368

   Kelch; Kelch domain

   sd00038
   Location:257 → 301

   Kelch; KELCH repeat [structural motif]

   pfam00651
   Location:1 → 67

   BTB; BTB/POZ domain

   pfam01344
   Location:256 → 301

   Kelch_1; Kelch motif

   pfam07707
   Location:76 → 178

   BACK; BTB And C-terminal Kelch

(Huom:  Mayvenin sukuisen  KLHL1- geenin löytöä koskevan artikkelin yhteydssä oli maininta: "We have previously identified and characterized two actinbinding proteins, termed NRP/B/ENC-1 ( = KLHL37 tai KLHL35 ovat aiempia nimiä)  (16-18) and Mayven( (=KLHL2)  (19), predominantly expressed in brain. Tässä yhteydessä otan esiin tuon ENC-1 , jolla näyttä olleen kaksi KLHL  numeroa 37 ja 35 jossain vaiheessa tieteellisiä luokituksia). 

Tällä proteiinilla ENC-1 on useita nimiä. 

Related articles in PubMed

1. 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
2. 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
3. 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 10828068
4. 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
5. 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 9683534

See all (32) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. ENC1 interacts with the phosphorylated p62 to impair autophagic degradation of mutant huntingtin protein aggregates.
2. we identified ENC1 and UNC5C as genes with convergent genetic, epigenetic, and transcriptomic evidence supporting a potential role in the dissociation of cognition and neuropathology in an aging population.
3. ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation.The transcription factor Nrf2 is the master regulator of a cellular defense mechanism against environmental insults. The Nrf2-mediated antioxidant response is accomplished by the transcription of a battery of genes that encode phase II detoxifying enzymes, xenobiotic transporters, and antioxidants. Coordinated expression of these genes is critical in protecting cells from toxic and carcinogenic insults and in maintaining cellular redox homeostasis. Activation of the Nrf2 pathway is primarily controlled by Kelch-like ECH-associated protein 1 (Keap1), which is a molecular switch that turns on or off the Nrf2 signaling pathway according to intracellular redox conditions. Here we report our finding of a novel Nrf2 suppressor ectodermal-neural cortex 1 (ENC1), which is a BTB-Kelch protein and belongs to the same family as Keap1. Transient expression of ENC1 reduced steady-state levels of Nrf2 and its downstream gene expression. Although ENC1 interacted with Keap1 indirectly, the ENC1-mediated down-regulation of Nrf2 was independent of Keap1. The negative effect of ENC1 on Nrf2 was not due to a change in the stability of Nrf2 because neither proteasomal nor lysosomal inhibitors had any effects. Overexpression of ENC1 did not result in a change in the level of Nrf2 mRNA, rather, it caused a decrease in the rate of Nrf2 protein synthesis. These results demonstrate that ENC1 functions as a negative regulator of Nrf2 through suppressing Nrf2 protein translation, which adds another level of complexity in controlling the Nrf2 signaling pathway
4. NRP/B mutations impair Nrf2-dependent NQO1 induction in primary brain tumors.
5. NRP/B enhances oxidative stress responses in breast cancer cells via the Nrf2 pathway, identifying a novel role of nuclear matrix protein(s) in oxidative stress responses.
6. results suggest that upregulation of ENC-1 contributes to the development of HCL and provides new information on the possible dysregulation of ENC-1 including expression of a novel antisense gene, ENC-1AS