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Protein

Ectoderm-neural cortex protein 1

Gene

ENC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Developmental protein

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

EuPathDBiHostDB:ENSG00000171617.13
HGNCiHGNC:3345 ENC1
MIMi605173 gene
neXtProtiNX_O14682

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi48165

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 Expressed in 230 organ(s), highest expression level in Brodmann (1909) area 10
CleanExiHS_ENC1
ExpressionAtlasiO14682 baseline and differential
GenevisibleiO14682 HS

Organism-specific databases

HPAiHPA078061

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114079, 15 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

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150826
HOGENOMiHOG000232171
HOVERGENiHBG000905
InParanoidiO14682
KOiK10462
OMAiMNIYLFH
OrthoDBiEOG091G03JU
PhylomeDBiO14682
TreeFamiTF329218

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR030562 ENC1
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24410:SF5 PTHR24410:SF5, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 4 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 6 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9D7D6R9D7_HUMAN
Ectoderm-neural cortex protein 1
ENC1
49Annotation score:

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 dbSNP:rs16872126Ensembl.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

Similar proteinsi

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, 15 interactors
IntActiO14682, 1 interactor
STRINGi9606.ENSP00000306356

PTM databases

iPTMnetiO14682
PhosphoSitePlusiO14682

Polymorphism and mutation databases

BioMutaiENC1

Proteomic databases

EPDiO14682
PaxDbiO14682
PeptideAtlasiO14682
PRIDEiO14682
ProteomicsDBi48165

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
EuPathDBiHostDB:ENSG00000171617.13
GeneCardsiENC1
HGNCiHGNC:3345 ENC1
HPAiHPA078061
MIMi605173 gene
neXtProtiNX_O14682
OpenTargetsiENSG00000171617
PharmGKBiPA27782
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150826
HOGENOMiHOG000232171
HOVERGENiHBG000905
InParanoidiO14682
KOiK10462
OMAiMNIYLFH
OrthoDBiEOG091G03JU
PhylomeDBiO14682
TreeFamiTF329218

Miscellaneous databases

ChiTaRSiENC1 human
GeneWikiiENC1
GenomeRNAii8507
PROiPR:O14682
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000171617 Expressed in 230 organ(s), highest expression level in Brodmann (1909) area 10
CleanExiHS_ENC1
ExpressionAtlasiO14682 baseline and differential
GenevisibleiO14682 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR030562 ENC1
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24410:SF5 PTHR24410:SF5, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 4 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 6 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiENC1_HUMAN
AccessioniPrimary (citable) accession number: O14682
Secondary accession number(s): B4DHJ1
, E9PFU0, O75464, Q9UPG9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 1, 2000
Last modified: November 7, 2018
This is version 170 of the entry and version 2 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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