Adaptin ear-binding coat-associated protein 1 (NECAP1)

The protein contains 275 amino acids for an estimated molecular weight of 29737 Da.

 

Involved in endocytosis. (updated: March 4, 2015)

Protein identification was indicated in the following studies:

  1. Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
  2. Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
  3. Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
  4. Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.

Methods

The following articles were analysed to gather the proteome content of erythrocytes.

The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.

PublicationIdentification 1Uniprot mapping 2Not mapped /
Obsolete
TrEMBLSwiss-Prot
Goodman (2013)2289 (gene list)227853205992269
Lange (2014)123412347281224
Hegedus (2015)2638262202352387
Wilson (2016)165815281702911068
d'Alessandro (2017)18261817201815
Bryk (2017)20902060101081942
Chu (2018)18531804553621387

1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry

The compilation of older studies can be retrieved from the Red Blood Cell Collection database.

The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.

No sequence conservation computed yet.

This protein is annotated as membranous in Gene Ontology, is annotated as membranous in UniProt.


Interpro domains
Total structural coverage: 48%
Model score: 32

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VariantDescription
dbSNP:rs2231752

The reference OMIM entry for this protein is 611623

Necap endocytosis-associated protein 1; necap1
Adaptin ear-binding coat-associated protein 1

DESCRIPTION

The NECAP1 gene encodes an accessory protein involved in clathrin-mediated endocytosis in synapses (summary by Alazami et al., 2014).

CLONING

Through a proteomic analysis of rat brain clathrin-coated vesicles, Ritter et al. (2003) identified Necap1. The deduced protein contains 275 amino acids. Western blot analysis detected Necap1 expression primarily in brain. Alazami et al. (2014) found intense expression of Necap1 throughout the embryonic mouse brain and spinal cord.

GENE FUNCTION

Ritter et al. (2003) identified a motif (WVQF) in the rat Necap1 protein that bound directly to the globular ear domain of the alpha-adaptin subunit (AP2A1; 601026) of the adaptor protein-2 (AP-2) complex. Mutations in this sequence blocked clathrin-mediated endocytosis.

MAPPING

Hartz (2007) mapped the NECAP1 gene to chromosome 12p13.31 based on an alignment of the NECAP1 sequence (GenBank GENBANK AK074858) with the genomic sequence (build 36.1).

MOLECULAR GENETICS

In affected members of a consanguineous Saudi Arabian family with early infantile epileptic encephalopathy-21 (EIEE21; 615833), Alazami et al. (2014) identified a homozygous truncating mutation in the NECAP1 gene (R48X; 611623.0001). The mutation was found by a combination of homozygosity mapping and exome sequencing. ... More on the omim web site

Subscribe to this protein entry history

Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated

Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated

Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated

March 16, 2016: Protein entry updated
Automatic update: OMIM entry 611623 was added.