NECAP1 - NECAP endocytosis associated 1 Gene

Also Known as DEE21; EIEE21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25977

About NECAP1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,082,274-8,097,881 (from NCBI)

This gene has 27 transcripts (splice variants), 244 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 49.7), bone marrow (RPKM 34.9) and 25 other tissues.

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 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]

NECAP1 Products (1)

mRNA	Protein	Name
NM_015509.4	NP_056324.2	adaptin ear-binding coat-associated protein 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NECAP1 Protein Structure

DUF1681

0
100
200
275 a.a.

Protein Preferred Names	Protein Names
adaptin ear-binding coat-associated protein 1

NECAP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NECAP1	Q8NC96	AP1B1	Homo sapiens	Q10567-3	Y2H Prey Pooling	32296183
Intra	NECAP1	Q8NC96	AP1B1	Homo sapiens	Q10567-3	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 21	DEE21 Epileptic Encephalopathy, Early Infantile, 21 Eiee21 Developmental And Epileptic Encephalopathy, 21 Early Infantile Epileptic Encephalopathy 21 Encephalopathy, Epileptic, Early Infantile, Type 21
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Epilepsy, Idiopathic Generalized 14	EIG14 Epilepsy, Idiopathic Generalized, Susceptibility To, 14 Idiopathic Generalized Epilepsy 14 {Epilepsy, Idiopathic Generalized, Susceptibility To, 14}
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile
Lissencephaly 8	LIS8
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Neonatal Period Electroclinical Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09172	NECAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NECAP1	VGNC	VGNC:43716
Bos taurus	NECAP1	VGNC	VGNC:31980
Rattus norvegicus	NECAP1	RGD	RGD:1306053
Felis catus	NECAP1	VGNC	VGNC:63765
Macaca mulatta	NECAP1	VGNC	VGNC:75246
Mus musculus	NECAP1	MGD	MGI:1914852
Others	NECAP1	NCBI