NECAP1 (NECAP endocytosis associated 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 25977
Gene name NECAP endocytosis associated 1
Gene symbol NECAP1
Synonyms (NCBI Gene)
DEE21EIEE21
Chromosome 12
Chromosome location 12p13.31
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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs587777420 C>T Pathogenic-likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
977
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (977)
miRTarBase ID miRNA Experiments Reference
MIRT038063 hsa-miR-423-5p CLASH 23622248
MIRT035856 hsa-miR-1254 CLASH 23622248
MIRT485313 hsa-miR-27a-3p PAR-CLIP 20371350
MIRT485312 hsa-miR-27b-3p PAR-CLIP 20371350
MIRT067293 hsa-miR-5197-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
GO:0005905 Component Clathrin-coated pit IEA
GO:0006897 Process Endocytosis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611623 24539 ENSG00000089818
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NC96
Protein name Adaptin ear-binding coat-associated protein 1 (NECAP endocytosis-associated protein 1) (NECAP-1)
Protein function Involved in endocytosis.
PDB 6RH5 , 6RH6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07933 DUF1681 7 → 164 Protein of unknown function (DUF1681) Domain
Sequence 
MATELEYESVLCVKPDVSVYRIPPRASNRGYRASDWKLDQPDWTGRLRITSKGKTAYIKL
EDKVSGELFAQAPVEQYPGIAVETVTDSSRYFVIRIQDGTGRSAFIGIGFTDRGDAFDFN
VSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIKLCIGNITNKKGGASKPRTAR
GGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF
Sequence length 275
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
183
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy, 21 Likely pathogenic; Pathogenic rs587777420, rs2498172659, rs2498155401, rs1947531929 RCV000119841
RCV002819076
RCV003140599
RCV001194672
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NECAP1-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign rs370869772, rs2498179572, rs2498172776, rs762477119, rs2231752, rs149738880, rs752918460 RCV004756358
RCV003421096
RCV004731542
RCV003921387
RCV003925703
RCV003943132
RCV003950484