Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25977
Gene name Gene Name - the full gene name approved by the HGNC.
NECAP endocytosis associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NECAP1
Synonyms (NCBI Gene) Gene synonyms aliases
DEE21, EIEE21
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE21
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005829 Component Cytosol TAS
GO:0005905 Component Clathrin-coated pit IEA
GO:0006897 Process Endocytosis IEA
GO:0015031 Process Protein transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611623 24539 ENSG00000089818
Protein
UniProt ID 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
VSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIKLCIG
NITNKKGGASKPRTAR
GGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF
Sequence length 275
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Golgi Associated Vesicle Biogenesis
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC