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NECAP1 Gene(Protein Coding)

NECAP Endocytosis Associated 1

GCID:
GC12P008082
GIFtS:
55
Genes Participants
UDN Logo

Aliases for NECAP1 Gene

Aliases for NECAP1 Gene

  • NECAP Endocytosis Associated 1 2 3 5
  • 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 Infantile Epileptic Encephalopathy. Among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. 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

Products:

  1. Regulatory Element

Regulatory Elements for NECAP1 Gene

Enhancers for NECAP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around NECAP1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the NECAP1 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for NECAP1 Gene

Proteins for NECAP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for NECAP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NECAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NECAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NECAP1 Gene

Domains & Families for NECAP1 Gene

Protein Domains for NECAP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NECAP1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for NECAP1 Gene

UniProtKB/Swiss-Prot Function:
Involved in endocytosis.

Phenotypes for NECAP1 Gene

GenomeRNAi human phenotypes for NECAP1:
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

miRNA for NECAP1 Gene

miRTarBase miRNAs that target NECAP1

Inhibitory RNA 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:0016020 membrane IEA --
GO:0030125 clathrin vesicle coat 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

None

No data available for SIGNOR curated interactions for NECAP1 Gene

Drugs & Compounds for NECAP1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for NECAP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for NECAP1 Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(237) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NECAP1 Gene

NECAP endocytosis associated 1:
Representative Sequences:

Inhibitory RNA 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

Products:

  1. Primer

mRNA expression in normal human tissues for NECAP1 Gene

mRNA expression in normal human tissues for NECAP1 Gene
mRNA expression by BioGPS for NECAP1 GenemRNA expression by GTEx 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, MOPED, and MaxQB for NECAP1 Gene



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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
 Mammalia NECAP1 35
  • 99.27 (n)
  • 99.27 (a)
NECAP1 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Necap1 35
  • 89.09 (n)
  • 93.09 (a)
oppossum
(Monodelphis domestica)
 Mammalia NECAP1 36
  • 78 (a)
 OneToOne
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)
zgc73124 35
necap1 36
  • 70 (a)
 OneToOne
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

(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
rs2231752 - 8,093,049(+) GCAGT(A/G)ATGCA nc-transcript-variant, reference, missense
rs1985484 -- 8,085,310(-) ccggg(C/T)gcggt intron-variant
rs10846464 -- 8,085,689(+) TTCTT(C/T)TTTTT intron-variant
rs10846465 -- 8,086,023(+) TTCAC(A/G)AGAAT intron-variant
rs7299921 -- 8,095,394(+) caggc(A/G)cccgc intron-variant

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

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

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, 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 67
  2. Characterization of the localization and function of NECAP 1 in neurons. (PMID: 16879712) Murshid A. … Presley J.F. (J. Neurochem. 2006) 3 23
  3. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. (PMID: 15494011) Ritter B. … McPherson P.S. (Biochem. Soc. Trans. 2004) 2 3
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for NECAP1 Gene

Sources for NECAP1 Gene

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