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

Gene ID: 25977, updated on 18-Aug-2020

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
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
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

Genomic context

See NECAP1 in Genome Data Viewer
Location:
12p13.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (8082274..8097881)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8234807..8250373)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene forkhead box J2 Neighboring gene complement C3a receptor 1 Neighboring gene C-type lectin domain family 4 member A Neighboring gene POU class 5 homeobox 1 pseudogene 3 Neighboring gene glycine cleavage system protein H pseudogene 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131900, DKFZP566B183

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
adaptin ear-binding coat-associated protein 1

NCBI Reference Sequences (RefSeq)

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_034155.1 RefSeqGene

    Range
    5001..20566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015509.4NP_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
    Q8NC96
    Related
    ENSP00000341737.5, ENST00000339754.11
    Conserved Domains (2) summary
    pfam07933
    Location:7164
    DUF1681; Protein of unknown function (DUF1681)
    pfam16617
    Location:212272
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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