NECAP1 - NECAP endocytosis associated 1 Gene

Homo sapiens

Also known as DEE21; EIEE21

Gene ID: 25977 | Gene type: protein coding

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

NECAP1 Protein Structure

DUF1681

0
100
200
275 a.a.

Protein Preferred Names

Protein Names

adaptin ear-binding coat-associated protein 1

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

Bioactive Molecules (1)

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

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