Free for academic non-profit institutions. Other users need a Commercial license

NECAP1 Gene(Protein Coding)

NECAP Endocytosis Associated 1

GCID:
GC12P008082
GIFtS:
48
Genes Participants
UDN Logo

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 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.

Additional gene information for NECAP1 Gene

No data available for CIViC summary , 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

GeneHancer (GH) Regulatory Elements for NECAP1 Gene

Promoters and enhancers for NECAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH12I008079 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556.9 +4.7 4693 3.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 NECAP1 ENSG00000279865 ENSG00000284697 FOXJ2 ENSG00000256967 M6PR POU5F1P3 LINC00612 C1RL-AS1 HADHAP2
GH12I008078 Enhancer 1 Ensembl ENCODE dbSUPER 550.8 +1.7 1661 0.4 CTCF ZNF654 ZNF362 ZNF384 REST RAD21 HMBOX1 SMC3 ZNF143 NECAP1 FOXJ2 ENSG00000279865
GH12I008108 Enhancer 0.9 Ensembl ENCODE 46.8 +32.1 32077 0.4 CTCF MAX ZNF384 ZNF2 RAD21 RFX5 TEAD3 ZNF335 CC2D1A ARID2 NECAP1 GC12P008103 CLEC4A ENSG00000284697
GH12I008096 Enhancer 0.4 Ensembl dbSUPER 49.4 +19.6 19562 0.6 NECAP1 CLEC4A FOXJ2 GC12P008091 GC12P008103 ENSG00000284697
GH12I007969 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -105.7 -105739 4.4 HDGF PKNOX1 SMAD1 ARNT SIN3A FEZF1 POLR2B ZNF207 ZNF143 FOS SLC2A3 NECAP1 CLEC4A FOXJ2 CLEC6A C3AR1 GC12P007976
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NECAP1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NECAP1 Gene

Genomic Locations for NECAP1 Gene
chr12:8,076,939-8,097,859
(GRCh38/hg38)
Size:
20,921 bases
Orientation:
Plus strand
chr12:8,234,807-8,250,373
(GRCh37/hg19)

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; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NECAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NECAP1 Gene

Protein Expression for NECAP1 Gene

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

Post-translational modifications for NECAP1 Gene

No Post-translational modifications

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

Gene Families for NECAP1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

Function for NECAP1 Gene

Products:

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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NECAP1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
cytoskeleton 2
extracellular 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NECAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005905 clathrin-coated pit 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006897 endocytosis IEA --
GO:0015031 protein transport IEA --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with NECAP1: view

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

mRNA/cDNA for NECAP1 Gene

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

Unigene Clusters for NECAP1 Gene

NECAP endocytosis associated 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NECAP1 Gene

mRNA expression in normal human tissues for NECAP1 Gene
mRNA expression by GTEx for NECAP1 GenemRNA expression by BioGPS 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

Evidence on tissue expression from TISSUES for NECAP1 Gene

  • Nervous system(5)
  • Kidney(4.2)
  • Lung(4.2)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NECAP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NECAP1: view

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 33 34
  • 99.27 (n)
dog
(Canis familiaris)
 Mammalia NECAP1 33 34
  • 93.09 (n)
cow
(Bos Taurus)
 Mammalia NECAP1 33 34
  • 92.85 (n)
mouse
(Mus musculus)
 Mammalia Necap1 33 16 34
  • 89.7 (n)
rat
(Rattus norvegicus)
 Mammalia Necap1 33
  • 89.09 (n)
oppossum
(Monodelphis domestica)
 Mammalia NECAP1 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves NECAP1 33 34
  • 76.54 (n)
lizard
(Anolis carolinensis)
 Reptilia NECAP1 34
  • 74 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.17597 33
zebrafish
(Danio rerio)
 Actinopterygii necap1 33 34
  • 66.8 (n)
zgc73124 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000322 33
  • 56.44 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG9132 33 34
  • 56.05 (n)
worm
(Caenorhabditis elegans)
 Secernentea Y110A2AR.3 34
  • 47 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.2050 34
  • 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 Variation AA Info Type
rs137964265 uncertain-significance, Early infantile epileptic encephalopathy 21 8,090,249(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs145154841 uncertain-significance, Early infantile epileptic encephalopathy 21 8,096,053(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs2231752 benign, Early infantile epileptic encephalopathy 21 8,093,049(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs374365372 uncertain-significance, Early infantile epileptic encephalopathy 21 8,090,266(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs587777420 conflicting-interpretations-of-pathogenicity, Early infantile epileptic encephalopathy 21 8,089,982(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained

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)

Additional Variant Information 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

(5) MalaCards diseases for NECAP1 Gene - From: HGMD, OMIM, GTR, 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.

Additional Disease Information for NECAP1

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 AM … Alkuraya FS (Journal of medical genetics 2014) 3 4 58
  2. Characterization of the localization and function of NECAP 1 in neurons. (PMID: 16879712) Murshid A … Presley JF (Journal of neurochemistry 2006) 3 22 58
  3. Molecular mechanisms in clathrin-mediated membrane budding revealed through subcellular proteomics. (PMID: 15494011) Ritter B … McPherson PS (Biochemical Society transactions 2004) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for NECAP1 Gene

Sources for NECAP1 Gene

Content
Loading form....