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Aliases for NECAP1 Gene

Aliases for NECAP1 Gene

  • NECAP Endocytosis Associated 1 2 3
  • Adaptin Ear-Binding Coat-Associated Protein 1 3
  • NECAP Endocytosis-Associated Protein 1 4
  • NECAP-1 4
  • EIEE21 3

External Ids for NECAP1 Gene

Previous GeneCards Identifiers for NECAP1 Gene

  • GC12P008110
  • GC12P007758
  • GC12P007989
  • GC12P008234
  • GC12P008046
  • GC12P007926

Summaries for NECAP1 Gene

Entrez Gene Summary for NECAP1 Gene

  • 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]

GeneCards Summary for NECAP1 Gene

NECAP1 (NECAP Endocytosis Associated 1) is a Protein Coding gene. Diseases associated with NECAP1 include epileptic encephalopathy, early infantile, 21 and ohtahara syndrome. Among its related pathways are Clathrin derived vesicle budding and Clathrin derived vesicle budding. An important paralog of this gene is NECAP2.

UniProtKB/Swiss-Prot for NECAP1 Gene

  • Involved in endocytosis.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NECAP1 Gene

Genomics for NECAP1 Gene

Regulatory Elements for NECAP1 Gene

Genomic Location for NECAP1 Gene

Start:
8,082,211 bp from pter
End:
8,097,777 bp from pter
Size:
15,567 bases
Orientation:
Plus strand

Genomic View for NECAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NECAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NECAP1 Gene

Proteins for NECAP1 Gene

  • Protein details for NECAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NC96-NECP1_HUMAN
    Recommended name:
    Adaptin ear-binding coat-associated protein 1
    Protein Accession:
    Q8NC96
    Secondary Accessions:
    • Q2NL73
    • Q5XG95
    • Q6NWY6
    • Q8N153
    • Q8NCB0
    • Q9BU52
    • Q9Y407

    Protein attributes for NECAP1 Gene

    Size:
    275 amino acids
    Molecular mass:
    29737 Da
    Quaternary structure:
    • Interacts with AP1G1 and AP2A1 components of the adapter protein complexes AP-1 and AP-2. Interacts with the GAE domain proteins GGA1, GGA2 and GGA3 (By similarity).
    SequenceCaution:
    • Sequence=AAH02888.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NECAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NECAP1 Gene

Proteomics data for NECAP1 Gene at MOPED

Post-translational modifications for NECAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NECAP1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NECAP1 Gene

Domains for NECAP1 Gene

Protein Domains for NECAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NC96

UniProtKB/Swiss-Prot:

NECP1_HUMAN :
  • Q8NC96
Domain:
  • The WXXF motifs mediate binding of accessory proteins to the ear-domain of AP-1, GGAs and AP-2 through hydrophobic interactions. Selective binding to the GAE domains of AP-1 or to the alpha-ear domain of AP-2 is tuned by the acidic context surrounding the motif and the properties of the second residue of the motif itself. The WXXF motif 1, which is preceded by an acidic residue and has a glycine in second position mediates specific interaction with AP-1. The WXXF motif 2, which is followed by the C-terminal carboxyl group negative charge, allows specific interaction with AP-2 (By similarity).
Family:
  • Belongs to the NECAP family.
genes like me logo Genes that share domains with NECAP1: view

No data available for Gene Families for NECAP1 Gene

Function for NECAP1 Gene

Molecular function for NECAP1 Gene

UniProtKB/Swiss-Prot Function: Involved in endocytosis.

Gene Ontology (GO) - Molecular Function for NECAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NECAP1: view

Phenotypes for NECAP1 Gene

GenomeRNAi human phenotypes for NECAP1:
genes like me logo Genes that share phenotypes with NECAP1: view

Animal Model Products

CRISPR Products

miRNA for NECAP1 Gene

miRTarBase miRNAs that target NECAP1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NECAP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NECAP1 Gene

Localization for NECAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NECAP1 Gene

Cytoplasmic vesicle, clathrin-coated vesicle membrane. Cell membrane. Note=Colocalizes with AP-2 at the plasma membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NECAP1 Gene COMPARTMENTS Subcellular localization image for NECAP1 gene
Compartment Confidence
cytoskeleton 2
cytosol 2
plasma membrane 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for NECAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005905 coated pit IEA --
GO:0016020 membrane --
GO:0030125 clathrin vesicle coat IEA --
genes like me logo Genes that share ontologies with NECAP1: view

Pathways for NECAP1 Gene

genes like me logo Genes that share pathways with NECAP1: view

Gene Ontology (GO) - Biological Process for NECAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with NECAP1: view

Transcripts for NECAP1 Gene

Unigene Clusters for NECAP1 Gene

NECAP endocytosis associated 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NECAP1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NECAP1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - - - -
SP2: - -
SP3:
SP4: - -
SP5:
SP6:

Relevant External Links for NECAP1 Gene

GeneLoc Exon Structure for
NECAP1
ECgene alternative splicing isoforms for
NECAP1

Expression for NECAP1 Gene

mRNA expression in normal human tissues for NECAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NECAP1 Gene

SOURCE GeneReport for Unigene cluster for NECAP1 Gene Hs.555927

genes like me logo Genes that share expressions with NECAP1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NECAP1 Gene

Orthologs for NECAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NECAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NECAP1 35
  • 99.27 (n)
  • 99.27 (a)
NECAP1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NECAP1 35
  • 92.85 (n)
  • 95.27 (a)
NECAP1 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NECAP1 35
  • 93.09 (n)
  • 94.91 (a)
NECAP1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Necap1 35
  • 89.7 (n)
  • 94.18 (a)
Necap1 16
Necap1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NECAP1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Necap1 35
  • 89.09 (n)
  • 93.09 (a)
chicken
(Gallus gallus)
Aves NECAP1 35
  • 76.54 (n)
  • 81.85 (a)
NECAP1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NECAP1 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17597 35
zebrafish
(Danio rerio)
Actinopterygii necap1 35
  • 66.8 (n)
  • 72.76 (a)
necap1 36
  • 70 (a)
OneToOne
zgc73124 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000322 35
  • 56.44 (n)
  • 57.14 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG9132 35
  • 56.05 (n)
  • 54.69 (a)
CG9132 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A2AR.3 36
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2050 36
  • 54 (a)
OneToMany
Species with no ortholog for NECAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NECAP1 Gene

ENSEMBL:
Gene Tree for NECAP1 (if available)
TreeFam:
Gene Tree for NECAP1 (if available)

Paralogs for NECAP1 Gene

Paralogs for NECAP1 Gene

Selected SIMAP similar genes for NECAP1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for NECAP1 Gene

genes like me logo Genes that share paralogs with NECAP1: view

Variants for NECAP1 Gene

Sequence variations from dbSNP and Humsavar for NECAP1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs1004824 -- 8,085,539(-) CATGT(A/G)CTGTA intron-variant
rs1062836 -- 8,096,454(+) ATCAT(C/G)TCATG utr-variant-3-prime, nc-transcript-variant
rs1468694 -- 8,084,005(-) CAACA(C/T)TTTGG intron-variant
rs1985484 -- 8,085,310(-) ccggg(C/T)gcggt intron-variant
rs2192136 -- 8,081,375(-) AGCTC(A/G)GAAGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NECAP1 Gene

Variant ID Type Subtype PubMed ID
dgv455e1 CNV Complex 17122850
nsv428270 CNV Gain 18775914

Relevant External Links for NECAP1 Gene

HapMap Linkage Disequilibrium report
NECAP1
Human Gene Mutation Database (HGMD)
NECAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NECAP1 Gene

Disorders for NECAP1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for NECAP1 Gene including...

Search for NECAP1 Gene in MalaCards »

UniProtKB/Swiss-Prot

NECP1_HUMAN
  • Epileptic encephalopathy, early infantile, 21 (EIEE21) [MIM:615833]: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia. {ECO:0000269 PubMed:24399846}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NECAP1

Human Genome Epidemiology (HuGE) Navigator
NECAP1
genes like me logo Genes that share disorders with NECAP1: view

Publications for NECAP1 Gene

  1. Characterization of the localization and function of NECAP 1 in neurons. (PMID: 16879712) Murshid A. … Presley J.F. (J. Neurochem. 2006) 3 23
  2. Identification of a family of endocytic proteins that define a new alpha-adaptin ear-binding motif. (PMID: 14555962) Ritter B. … McPherson P.S. (EMBO Rep. 2003) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. (PMID: 15494011) Ritter B. … McPherson P.S. (Biochem. Soc. Trans. 2004) 2 3
  5. NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. (PMID: 24399846) Alazami A.M. … Alkuraya F.S. (J. Med. Genet. 2014) 3 4

Products for NECAP1 Gene

Sources for NECAP1 Gene

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