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Protein

Ectoderm-neural cortex protein 1

Gene

ENC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Actin-binding protein involved in the regulation of neuronal process formation and in differentiation of neural crest cells. Down-regulates transcription factor NF2L2/NRF2 by decreasing the rate of protein synthesis and not via a ubiquitin-mediated proteasomal degradation mechanism.1 Publication

GO - Biological processi

  • multicellular organism development Source: ProtInc
  • negative regulation of translation Source: UniProtKB
  • nervous system development Source: ProtInc
  • positive regulation of neuron projection development Source: Ensembl
  • proteasomal ubiquitin-independent protein catabolic process Source: UniProtKB
  • protein ubiquitination Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171617-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Ectoderm-neural cortex protein 1
Short name:
ENC-1
Alternative name(s):
Kelch-like protein 37
Nuclear matrix protein NRP/B
p53-induced gene 10 protein
Gene namesi
Name:ENC1
Synonyms:KLHL37, NRPB, PIG10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:3345. ENC1.

Subcellular locationi

  • Nucleus matrix 1 Publication
  • Cytoplasm 1 Publication
  • Cytoplasmcytoskeleton 1 Publication

GO - Cellular componenti

  • Cul3-RING ubiquitin ligase complex Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • cytoskeleton Source: UniProtKB-SubCell
  • neuronal cell body Source: Ensembl
  • nuclear chromatin Source: Ensembl
  • nuclear matrix Source: UniProtKB-SubCell
  • nucleolus Source: Ensembl
  • nucleoplasm Source: Ensembl
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8507.
OpenTargetsiENSG00000171617.
PharmGKBiPA27782.

Polymorphism and mutation databases

BioMutaiENC1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001190681 – 589Ectoderm-neural cortex protein 1Add BLAST589

Post-translational modificationi

Ubiquitinated by E3 ubiquitin ligase complex formed by CUL3 and RBX1 and probably targeted for proteasome-independent degradation. Quinone-induced oxidative stress increases its ubiquitination.1 Publication

Keywords - PTMi

Ubl conjugation

Proteomic databases

EPDiO14682.
PaxDbiO14682.
PeptideAtlasiO14682.
PRIDEiO14682.

PTM databases

iPTMnetiO14682.
PhosphoSitePlusiO14682.

Expressioni

Tissue specificityi

Detected in fetal brain tissue, moderate expression in fetal heart, lung and kidney. Highly expressed in adult brain, particularly high in the hippocampus and amygdala, and spinal chord. Detectable in adult pancreas. May be down-regulated in neuroblastoma tumors.

Developmental stagei

Dramatically up-regulated upon neuronal differentiation.

Inductioni

By p53/TP53.1 Publication

Gene expression databases

BgeeiENSG00000171617.
CleanExiHS_ENC1.
ExpressionAtlasiO14682. baseline and differential.
GenevisibleiO14682. HS.

Organism-specific databases

HPAiCAB017111.

Interactioni

Subunit structurei

Binds to RB1. Hypophosphorylated RB1 associates with ENC1 during neuronal differentiation, while hyperphosphorylated RB1 associates with ENC1 in undifferentiating cells. Part of a complex that contains CUL3, RBX1 and ENC1. Interacts indirectly with KEAP1.2 Publications

Protein-protein interaction databases

BioGridi114079. 14 interactors.
IntActiO14682. 1 interactor.
STRINGi9606.ENSP00000306356.

Structurei

3D structure databases

ProteinModelPortaliO14682.
SMRiO14682.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini46 – 114BTBPROSITE-ProRule annotationAdd BLAST69
Repeati296 – 340Kelch 1Add BLAST45
Repeati341 – 388Kelch 2Add BLAST48
Repeati389 – 444Kelch 3Add BLAST56
Repeati446 – 492Kelch 4Add BLAST47
Repeati494 – 538Kelch 5Add BLAST45
Repeati539 – 585Kelch 6Add BLAST47

Sequence similaritiesi

Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
Contains 6 Kelch repeats.Curated

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000232171.
HOVERGENiHBG000905.
InParanoidiO14682.
KOiK10462.
OMAiLDAWNSI.
OrthoDBiEOG091G03JU.
PhylomeDBiO14682.
TreeFamiTF329218.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030562. ENC1.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24410:SF5. PTHR24410:SF5. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O14682-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSVSVHENRK SRASSGSINI YLFHKSSYAD SVLTHLNLLR QQRLFTDVLL
60 70 80 90 100
HAGNRTFPCH RAVLAACSRY FEAMFSGGLK ESQDSEVNFD NSIHPEVLEL
110 120 130 140 150
LLDYAYSSRV IINEENAESL LEAGDMLEFQ DIRDACAEFL EKNLHPTNCL
160 170 180 190 200
GMLLLSDAHQ CTKLYELSWR MCLSNFQTIR KNEDFLQLPQ DMVVQLLSSE
210 220 230 240 250
ELETEDERLV YESAINWISY DLKKRYCYLP ELLQTVRLAL LPAIYLMENV
260 270 280 290 300
AMEELITKQR KSKEIVEEAI RCKLKILQND GVVTSLCARP RKTGHALFLL
310 320 330 340 350
GGQTFMCDKL YLVDQKAKEI IPKADIPSPR KEFSACAIGC KVYITGGRGS
360 370 380 390 400
ENGVSKDVWV YDTLHEEWSK AAPMLVARFG HGSAELKHCL YVVGGHTAAT
410 420 430 440 450
GCLPASPSVS LKQVEHYDPT INKWTMVAPL REGVSNAAVV SAKLKLFAFG
460 470 480 490 500
GTSVSHDKLP KVQCYDQCEN RWTVPATCPQ PWRYTAAAVL GNQIFIMGGD
510 520 530 540 550
TEFSACSAYK FNSETYQWTK VGDVTAKRMS CHAVASGNKL YVVGGYFGIQ
560 570 580
RCKTLDCYDP TLDVWNSITT VPYSLIPTAF VSTWKHLPS
Length:589
Mass (Da):66,130
Last modified:December 1, 2000 - v2
Checksum:iDB003A1DFA65BAA0
GO
Isoform 2 (identifier: O14682-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: Missing.

Note: No experimental confirmation available.
Show »
Length:516
Mass (Da):57,854
Checksum:i4A30529496E087EB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti108S → F in BAG58153 (PubMed:14702039).Curated1
Sequence conflicti112 – 130INEEN…MLEFQ → HQLEGKCRNSLLGSLVTCWS FK (PubMed:9305847).CuratedAdd BLAST19
Sequence conflicti237 – 238RL → TR in AAC39532 (PubMed:9305847).Curated2
Sequence conflicti378R → M in BAG58153 (PubMed:14702039).Curated1
Sequence conflicti402C → S in AAC64498 (PubMed:9683534).Curated1
Sequence conflicti427V → A (PubMed:9305847).Curated1
Sequence conflicti430 – 438LREGVSNAA → RPRRRYNCAQ (PubMed:9305847).Curated9
Sequence conflicti484 – 589YTAAA…KHLPS → IHSQASCPGGTQDFLLWGVI QNFSACFCL in AAC39532 (PubMed:9305847).CuratedAdd BLAST106

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050040256I → S.Corresponds to variant rs16872126dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0450741 – 73Missing in isoform 2. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF010314 mRNA. Translation: AAC39532.1.
AF005381 mRNA. Translation: AAC64498.1.
AF059611 mRNA. Translation: AAC26109.1.
AK295128 mRNA. Translation: BAG58153.1.
AC026405 Genomic DNA. No translation available.
BC000418 mRNA. Translation: AAH00418.1.
CCDSiCCDS4021.1. [O14682-1]
CCDS58958.1. [O14682-2]
RefSeqiNP_001243503.1. NM_001256574.1. [O14682-1]
NP_001243504.1. NM_001256575.1. [O14682-1]
NP_001243505.1. NM_001256576.1. [O14682-2]
NP_003624.1. NM_003633.3. [O14682-1]
XP_011541998.1. XM_011543696.2. [O14682-1]
XP_011541999.1. XM_011543697.2. [O14682-1]
UniGeneiHs.104925.
Hs.744844.

Genome annotation databases

EnsembliENST00000302351; ENSP00000306356; ENSG00000171617. [O14682-1]
ENST00000510316; ENSP00000423804; ENSG00000171617. [O14682-2]
ENST00000537006; ENSP00000446289; ENSG00000171617. [O14682-1]
ENST00000618628; ENSP00000479101; ENSG00000171617. [O14682-1]
GeneIDi8507.
KEGGihsa:8507.
UCSCiuc011css.4. human. [O14682-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF010314 mRNA. Translation: AAC39532.1.
AF005381 mRNA. Translation: AAC64498.1.
AF059611 mRNA. Translation: AAC26109.1.
AK295128 mRNA. Translation: BAG58153.1.
AC026405 Genomic DNA. No translation available.
BC000418 mRNA. Translation: AAH00418.1.
CCDSiCCDS4021.1. [O14682-1]
CCDS58958.1. [O14682-2]
RefSeqiNP_001243503.1. NM_001256574.1. [O14682-1]
NP_001243504.1. NM_001256575.1. [O14682-1]
NP_001243505.1. NM_001256576.1. [O14682-2]
NP_003624.1. NM_003633.3. [O14682-1]
XP_011541998.1. XM_011543696.2. [O14682-1]
XP_011541999.1. XM_011543697.2. [O14682-1]
UniGeneiHs.104925.
Hs.744844.

3D structure databases

ProteinModelPortaliO14682.
SMRiO14682.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114079. 14 interactors.
IntActiO14682. 1 interactor.
STRINGi9606.ENSP00000306356.

PTM databases

iPTMnetiO14682.
PhosphoSitePlusiO14682.

Polymorphism and mutation databases

BioMutaiENC1.

Proteomic databases

EPDiO14682.
PaxDbiO14682.
PeptideAtlasiO14682.
PRIDEiO14682.

Protocols and materials databases

DNASUi8507.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302351; ENSP00000306356; ENSG00000171617. [O14682-1]
ENST00000510316; ENSP00000423804; ENSG00000171617. [O14682-2]
ENST00000537006; ENSP00000446289; ENSG00000171617. [O14682-1]
ENST00000618628; ENSP00000479101; ENSG00000171617. [O14682-1]
GeneIDi8507.
KEGGihsa:8507.
UCSCiuc011css.4. human. [O14682-1]

Organism-specific databases

CTDi8507.
DisGeNETi8507.
GeneCardsiENC1.
HGNCiHGNC:3345. ENC1.
HPAiCAB017111.
MIMi605173. gene.
neXtProtiNX_O14682.
OpenTargetsiENSG00000171617.
PharmGKBiPA27782.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441. Eukaryota.
ENOG410XNX8. LUCA.
GeneTreeiENSGT00850000132244.
HOGENOMiHOG000232171.
HOVERGENiHBG000905.
InParanoidiO14682.
KOiK10462.
OMAiLDAWNSI.
OrthoDBiEOG091G03JU.
PhylomeDBiO14682.
TreeFamiTF329218.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171617-MONOMER.

Miscellaneous databases

ChiTaRSiENC1. human.
GeneWikiiENC1.
GenomeRNAii8507.
PROiO14682.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171617.
CleanExiHS_ENC1.
ExpressionAtlasiO14682. baseline and differential.
GenevisibleiO14682. HS.

Family and domain databases

Gene3Di2.120.10.80. 1 hit.
InterProiIPR011705. BACK.
IPR017096. BTB-kelch_protein.
IPR000210. BTB/POZ_dom.
IPR030562. ENC1.
IPR015915. Kelch-typ_b-propeller.
IPR006652. Kelch_1.
IPR011333. SKP1/BTB/POZ.
[Graphical view]
PANTHERiPTHR24410:SF5. PTHR24410:SF5. 1 hit.
PfamiPF07707. BACK. 1 hit.
PF00651. BTB. 1 hit.
PF01344. Kelch_1. 4 hits.
[Graphical view]
PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
SMARTiSM00875. BACK. 1 hit.
SM00225. BTB. 1 hit.
SM00612. Kelch. 6 hits.
[Graphical view]
SUPFAMiSSF54695. SSF54695. 1 hit.
PROSITEiPS50097. BTB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiENC1_HUMAN
AccessioniPrimary (citable) accession number: O14682
Secondary accession number(s): B4DHJ1
, E9PFU0, O75464, Q9UPG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 1, 2000
Last modified: November 2, 2016
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.