NECAP1 Gene Summary [Human]

This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Details

Type
Protein Coding
Official Symbol
NECAP1
Official Name
NECAP endocytosis associated 1 [Source:HGNC Symbol;Acc:HGNC:24539]
Ensembl ID
ENSG00000089818
Bio databases IDs NCBI: 25977 Ensembl: ENSG00000089818
Aliases NECAP endocytosis associated 1, adaptin-ear-binding coat-associated protein 1
Synonyms 1200016B17RIK, DEE21, EIEE21, NECAP endocytosis associated 1, RGD1306053
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NECAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Protein of unknown function (DUF1681)
  • protein binding
  • Pleckstrin homology-like domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • early infantile epileptic encephalopathy type 21
  • developmental epileptic encephalopathy
regulated by
  • YAP1
  • Immunoglobulin

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • presynaptic regions
  • cellular membrane
  • cytosol
  • clathrin-coated pits
  • clathrin-coated vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NECAP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • vesicle-mediated transport
  • protein transport
  • endocytosis

Cellular Component

Where in the cell the gene product is active
  • coated pit
  • cytosol
  • clathrin vesicle coat
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.