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

Summary

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: mouse all
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Genomic context

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
NECAP1 mutation links trafficking pathway in early infantile epileptic encephalopathy.
Title: NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20881 (e-PCR)
- UniSTS:16978

A006J36 (e-PCR)
- UniSTS:16979

RH103823 (e-PCR)
- UniSTS:98148

NoName (e-PCR)
- UniSTS:483009

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

NG_034155.2 RefSeqGene

Range

5002..20609

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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