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NECAP1 NECAP endocytosis associated 1 [ Homo sapiens (human) ]

Gene ID: 25977, updated on 11-Apr-2024

Summary

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Official Symbol
NECAP1provided by HGNC
Official Full Name
NECAP endocytosis associated 1provided by HGNC
Primary source
HGNC:HGNC:24539
See related
Ensembl:ENSG00000089818 MIM:611623; AllianceGenome:HGNC:24539
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE21; EIEE21
Summary
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]
Expression
Ubiquitous expression in brain (RPKM 49.7), bone marrow (RPKM 34.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8082274..8097881)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8095874..8111478)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8234870..8250477)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5926 Neighboring gene forkhead box J2 Neighboring gene complement C3a receptor 1 Neighboring gene NANOG hESC enhancer GRCh37_chr12:8229725-8230226 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:8234132-8235331 Neighboring gene C-type lectin domain family 4 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8286281-8287059 Neighboring gene POU class 5 homeobox 1 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:8294369-8294870 Neighboring gene GCSH pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. Ritter B, et al. Biochem Soc Trans, 2004 Nov. PMID 15494011
  2. Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation via AP2 Phosphorylation. Wrobel AG, et al. Dev Cell, 2019 Aug 19. PMID 31430451, Free PMC Article
  3. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. Alazami AM, et al. J Med Genet, 2014 Apr. PMID 24399846
  4. Characterization of the localization and function of NECAP 1 in neurons. Murshid A, et al. J Neurochem, 2006 Sep. PMID 16879712
  5. Dual engagement regulation of protein interactions with the AP-2 adaptor alpha appendage. Mishra SK, et al. J Biol Chem, 2004 Oct 29. PMID 15292237

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NECAP recruits drivers of late stages of clathrin-coated pit (CCP) formation, including SNX9, via a site distinct from where NECAP binds AP2.
    Title: Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation via AP2 Phosphorylation.
  2. NECAP1 mutation links trafficking pathway in early infantile epileptic encephalopathy.
    Title: NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 21
MedGen: C4014430 OMIM: 615833 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC131900, DKFZP566B183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of clathrin vesicle coat IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
adaptin ear-binding coat-associated protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034155.2 RefSeqGene

    Range
    5002..20609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015509.4 → NP_056324.2  adaptin ear-binding coat-associated protein 1

    See identical proteins and their annotated locations for NP_056324.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a functional protein.
    Source sequence(s)
    AC006511
    Consensus CDS
    CCDS8589.1
    UniProtKB/Swiss-Prot
    Q2NL73, Q5XG95, Q6NWY6, Q8N153, Q8NC96, Q8NCB0, Q9BU52, Q9Y407
    UniProtKB/TrEMBL
    A0A1W2PR09
    Related
    ENSP00000341737.5, ENST00000339754.11
    Conserved Domains (2) summary
    pfam07933
    Location:7 → 164
    DUF1681; Protein of unknown function (DUF1681)
    pfam16617
    Location:212 → 272
    INTAP; Intersectin and clathrin adaptor AP2 binding region

RNA

  1. NR_024260.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC006511
    Related
    ENST00000450991.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    8082274..8097881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    8095874..8111478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NC96.2 GenPept UniProtKB/Swiss-Prot:Q8NC96

Gene LinkOut

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