• Gene id: 8507

Gene Summary

• Gene Symbol: ENC1   Gene   UCSC   Ensembl
• Aliases: CCL28, ENC-1, KLHL35, KLHL37, NRPB, PIG10, TP53I10
• Gene name: ectodermal-neural cortex 1
• Alternate names: ectoderm-neural cortex protein 1, 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 do,
• Gene location: 5q13.3 (74641423: 74627405)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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 t
• OMIM: 605173

Protein Summary

• Protein general information: O14682  
  • Name: Ectoderm neural cortex protein 1 (ENC 1) (Kelch like protein 37) (Nuclear matrix protein NRP/B) (p53 induced gene 10 protein)
  • Length: 589  
  • Mass: 66130
  • Tissue specificity: 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-regula
• Sequence:

  MSVSVHENRKSRASSGSINIYLFHKSSYADSVLTHLNLLRQQRLFTDVLLHAGNRTFPCHRAVLAACSRYFEAMF
  SGGLKESQDSEVNFDNSIHPEVLELLLDYAYSSRVIINEENAESLLEAGDMLEFQDIRDACAEFLEKNLHPTNCL
  GMLLLSDAHQCTKLYELSWRMCLSNFQTIRKNEDFLQLPQDMVVQLLSSEELETEDERLVYESAINWISYDLKKR
  YCYLPELLQTVRLALLPAIYLMENVAMEELITKQRKSKEIVEEAIRCKLKILQNDGVVTSLCARPRKTGHALFLL
  GGQTFMCDKLYLVDQKAKEIIPKADIPSPRKEFSACAIGCKVYITGGRGSENGVSKDVWVYDTLHEEWSKAAPML
  VARFGHGSAELKHCLYVVGGHTAATGCLPASPSVSLKQVEHYDPTINKWTMVAPLREGVSNAAVVSAKLKLFAFG
  GTSVSHDKLPKVQCYDQCENRWTVPATCPQPWRYTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDVT
  AKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVWNSITTVPYSLIPTAFVSTWKHLPS

• Structural information:
  • Protein Domains: (46..11-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR030562  IPR015915   IPR006652  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000479101
• Other Databases: GeneCards:  ENC1  Malacards:  ENC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031463	Cul3-RING ubiquitin ligase complex	IBA	cellular component
GO:0010499	proteasomal ubiquitin-independent protein catabolic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0017148	negative regulation of translation	IDA	biological process
GO:0010499	proteasomal ubiquitin-independent protein catabolic process	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0007275	multicellular organism development	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016363	nuclear matrix	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)