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Aliases for NECAP1 Gene

Aliases for NECAP1 Gene

  • NECAP Endocytosis Associated 1 2 3 5
  • 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 Undetermined Early-Onset Epileptic Encephalopathy. Among its related pathways are Vesicle-mediated transport 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

Enhancers for NECAP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F008096 0.2 Ensembl 49.4 +14.4 14390 0.8 OSR2 NECAP1 CLEC4A FOXJ2 GC12P008091 GC12P008103
GH12F008108 1.2 Ensembl ENCODE 46.8 +26.8 26806 0.4 BCOR CTCF TEAD4 MAX ZNF384 ZIC2 ZNF2 RAD21 RFX5 TEAD3 NECAP1 GC12P008103 CLEC4A
GH12F008087 1 Ensembl ENCODE 12.8 +6.2 6170 2.1 TBP PKNOX1 MXI1 WRNIP1 MAX EBF1 TBX21 ZNF623 IKZF1 ZNF143 NECAP1 C3AR1 CLEC4A FOXJ2 GC12P008091
GH12F007796 1.1 Ensembl ENCODE 12.5 -283.4 -283374 4.6 BCOR ZNF792 ZNF781 RARA ZNF316 JUND ZBTB33 NFE2 EMSY ZBTB20 FAM66C GNB3 NECAP1 ENO2 DPPA3 ENSG00000244050 RPL13P5 DSTNP2 SLC2A3 NANOG
GH12F007793 0.6 Ensembl 12.5 -288.8 -288811 0.8 NECAP1 DPPA3 ENSG00000199912 GC12M007800 NANOG
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NECAP1 on UCSC Golden Path with GeneCards custom track

Promoters for NECAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000425998 -11 2401 HDGF PKNOX1 WRNIP1 ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 YY1

Genomic Location for NECAP1 Gene

Chromosome:
12
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

Genes around NECAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NECAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NECAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NECAP1 Gene

Post-translational modifications for NECAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NECAP1 Gene

No data available for DME Specific Peptides for NECAP1 Gene

Domains & Families for NECAP1 Gene

Protein Domains for NECAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8NC96

UniProtKB/Swiss-Prot:

NECP1_HUMAN :
  • 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).
  • Belongs to the NECAP family.
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.
genes like me logo Genes that share phenotypes with NECAP1: view

Human Phenotype Ontology for NECAP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
cytosol 3
plasma membrane 3
cytoskeleton 2
extracellular 1
golgi apparatus 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 clathrin-coated pit IEA --
GO:0016020 membrane IEA --
GO:0030125 clathrin vesicle coat IEA --
GO:0030665 clathrin-coated vesicle membrane IEA --
genes like me logo Genes that share ontologies with NECAP1: view

Pathways & Interactions 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:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with NECAP1: view

No data available for SIGNOR curated interactions for NECAP1 Gene

Transcripts for NECAP1 Gene

Unigene Clusters for NECAP1 Gene

NECAP endocytosis associated 1:
Representative Sequences:

Inhibitory RNA Products

Clone 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

Protein differential expression in normal tissues from HIPED for NECAP1 Gene

This gene is overexpressed in Brain (33.5), Fetal Brain (8.9), and Breast (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NECAP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NECAP1 Gene:

NECAP1

SOURCE GeneReport for Unigene cluster for NECAP1 Gene:

Hs.555927
genes like me logo Genes that share expression patterns with NECAP1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia NECAP1 34 35
  • 93.09 (n)
cow
(Bos Taurus)
Mammalia NECAP1 34 35
  • 92.85 (n)
mouse
(Mus musculus)
Mammalia Necap1 34 16 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Necap1 34
  • 89.09 (n)
oppossum
(Monodelphis domestica)
Mammalia NECAP1 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves NECAP1 34 35
  • 76.54 (n)
lizard
(Anolis carolinensis)
Reptilia NECAP1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17597 34
zebrafish
(Danio rerio)
Actinopterygii necap1 34 35
  • 66.8 (n)
zgc73124 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000322 34
  • 56.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9132 34 35
  • 56.05 (n)
worm
(Caenorhabditis elegans)
Secernentea Y110A2AR.3 35
  • 47 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2050 35
  • 54 (a)
OneToMany
Species where no ortholog for NECAP1 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs587777420 other 8,089,982(+) GCCTC(C/T)GAATC nc-transcript-variant, reference, stop-gained
rs1004824 -- 8,085,539(-) CATGT(A/G)CTGTA intron-variant
rs10492105 -- 8,084,991(+) GATAC(A/T)TATTG intron-variant
rs10492106 -- 8,093,806(+) GAGGG(A/T)TAAAT intron-variant
rs1062836 -- 8,096,454(+) ATCAT(C/G)TCATG nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2759877 CNV gain+loss 17122850
nsv1045521 CNV gain 25217958
nsv428270 CNV gain 18775914
nsv475738 CNV novel sequence insertion 20440878

Variation tolerance for NECAP1 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NECAP1 Gene

Human Gene Mutation Database (HGMD)
NECAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NECAP1

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

Disorders for NECAP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NECAP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NECAP1
genes like me logo Genes that share disorders with NECAP1: view

No data available for Genatlas for NECAP1 Gene

Publications for NECAP1 Gene

  1. 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 64
  2. Characterization of the localization and function of NECAP 1 in neurons. (PMID: 16879712) Murshid A. … Presley J.F. (J. Neurochem. 2006) 3 22 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. 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 64
  5. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. (PMID: 15494011) Ritter B. … McPherson P.S. (Biochem. Soc. Trans. 2004) 2 3 64

Products for NECAP1 Gene

Sources for NECAP1 Gene

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