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NECAP1 (NECAP endocytosis associated 1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25977
Gene nameGene Name - the full gene name approved by the HGNC.
NECAP endocytosis associated 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NECAP1
SynonymsGene synonyms aliases
DEE21, EIEE21
ChromosomeChromosome number
12
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.31
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs587777420 C>T Pathogenic-likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
VSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIKLCIGNITNKKGGASKPRTAR
GGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF
Sequence length 275
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression Developmental regression rs1224421127
Unknown
Disease name Disease term dbSNP ID References
Brain atrophy Brain atrophy
Cerebral atrophy Cerebral atrophy
Dwarfism Dwarfism
Dyskinetic syndrome Dyskinetic syndrome

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