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ENC1 ectodermal-neural cortex 1 [ Homo sapiens (human) ]

Gene ID: 8507, updated on 21-Dec-2019

Summary

Official Symbol
ENC1provided by HGNC
Official Full Name
ectodermal-neural cortex 1provided by HGNC
Primary source
HGNC:HGNC:3345
See related
Ensembl:ENSG00000171617 MIM:605173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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

Genomic context

See ENC1 in Genome Data Viewer
Location:
5q13.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (74627406..74641424, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (73923231..73937249, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1331 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1766 Neighboring gene hexosaminidase subunit beta Neighboring gene RNA, U6 small nuclear 658, pseudogene Neighboring gene GTP dependent ribosome recycling factor mitochondrial 2 Neighboring gene RNA, U6 small nuclear 1330, pseudogene Neighboring gene family with sequence similarity 169 member A Neighboring gene NSA2 ribosome biogenesis factor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ectodermal-neural cortex 1 (with BTB-like domain) (ENC1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39259, FLJ57577

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IEA
Inferred from Electronic Annotation
more info
 
nuclear matrix IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus TAS
Traceable Author Statement
more info
PubMed 

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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256574.1NP_001243503.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001243503.1

    Status: 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:330374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48566
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. NM_001256575.1NP_001243504.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001243504.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC026405, BC000418, DA032687
    Consensus CDS
    CCDS4021.1
    UniProtKB/Swiss-Prot
    O14682
    UniProtKB/TrEMBL
    Q53XS2
    Conserved Domains (2) summary
    sd00038
    Location:330374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48566
    BTB; Broad-Complex, Tramtrack and Bric a brac
  3. NM_001256576.1NP_001243505.1  ectoderm-neural cortex protein 1 isoform 2

    Status: REVIEWED

    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.
    Source sequence(s)
    AC026405, AK295128, BT007392
    Consensus CDS
    CCDS58958.1
    UniProtKB/Swiss-Prot
    O14682
    UniProtKB/TrEMBL
    Q53XS2
    Related
    ENSP00000423804.1, ENST00000510316.5
    Conserved Domains (5) summary
    smart00612
    Location:316368
    Kelch; Kelch domain
    sd00038
    Location:257301
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:167
    BTB; BTB/POZ domain
    pfam01344
    Location:256301
    Kelch_1; Kelch motif
    pfam07707
    Location:76178
    BACK; BTB And C-terminal Kelch
  4. NM_003633.3NP_003624.1  ectoderm-neural cortex protein 1 isoform 1

    See identical proteins and their annotated locations for NP_003624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the most abundant transcript. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC026405, BC000418
    Consensus CDS
    CCDS4021.1
    UniProtKB/Swiss-Prot
    O14682
    UniProtKB/TrEMBL
    Q53XS2
    Related
    ENSP00000306356.4, ENST00000302351.8
    Conserved Domains (2) summary
    sd00038
    Location:330374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48566
    BTB; Broad-Complex, Tramtrack and Bric a brac

RNA

  1. NR_046318.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) is represented as non-coding because it lacks the coding exon found in variant 1.
    Source sequence(s)
    AC026405, DA785554

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    74627406..74641424 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543697.3XP_011541999.1  ectoderm-neural cortex protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541999.1

    UniProtKB/Swiss-Prot
    O14682
    UniProtKB/TrEMBL
    Q53XS2
    Conserved Domains (2) summary
    sd00038
    Location:330374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48566
    BTB; Broad-Complex, Tramtrack and Bric a brac
  2. XM_011543696.3XP_011541998.1  ectoderm-neural cortex protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011541998.1

    UniProtKB/Swiss-Prot
    O14682
    UniProtKB/TrEMBL
    Q53XS2
    Related
    ENSP00000499185.1, ENST00000651128.1
    Conserved Domains (2) summary
    sd00038
    Location:330374
    Kelch; KELCH repeat [structural motif]
    cl28614
    Location:48566
    BTB; Broad-Complex, Tramtrack and Bric a brac
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