1. Gene
  2. ENC1 - ectodermal-neural cortex 1 Gene

ENC1 - ectodermal-neural cortex 1 Gene

Homo sapiens

Also known as NRPB; CCL28; ENC-1; PIG10; KLHL35; KLHL37; TP53I10

Gene ID: 8507 | Gene type: protein coding

About ENC1

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:74,627,409-74,640,728 (from NCBI)

This gene has 8 transcripts (splice variants), 204 orthologues and 2 paralogues. Biased expression in brain (RPKM 180.1), gall bladder (RPKM 11.8) and 4 other tissues.

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]

ENC1 Products(4)

mRNA Protein Name
NM_001256574.2 NP_001243503.1 ectoderm-neural cortex protein 1 isoform 1
NM_001256575.2 NP_001243504.1 ectoderm-neural cortex protein 1 isoform 1
NM_001256576.2 NP_001243505.1 ectoderm-neural cortex protein 1 isoform 2
NM_003633.4 NP_003624.1 ectoderm-neural cortex protein 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19424503 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of translation IDA
IDA: Inferred from direct assay
19424503 GOA
involved in proteasomal ubiquitin-independent protein catabolic process IDA
IDA: Inferred from direct assay
19424503 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
15983046 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Cul3-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
15983046 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19424503 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ENC1 Protein Structure

BTB

BTB: BTB/POZ domain (36 - 143)

BACK

BACK: BTB And C-terminal Kelch (149 - 250)

Kelch_1

Kelch_1: Kelch motif (329 - 374)

Kelch_1

Kelch_1: Kelch motif (377 - 431)

Kelch_1

Kelch_1: Kelch motif (483 - 522)

Kelch_1

Kelch_1: Kelch motif (528 - 569)

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  • 500
  • 589 a.a.
Protein Preferred Names Protein Names

ectoderm-neural cortex protein 1

ectodermal-neural cortex 1 (with BTB domain)

Related Diseases

Diseases Alias
Necrotizing Gastritis
Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ENC1 RGD RGD:1303152
Felis catus ENC1 VGNC VGNC:61857
Bos taurus ENC1 VGNC VGNC:28489
Mus musculus ENC1 MGD MGI:109610
Canis familiaris ENC1 VGNC VGNC:40359
Macaca mulatta ENC1 VGNC VGNC:72217