NPAP1 - nuclear pore associated protein 1 Gene

Homo sapiens

Also known as C15orf2

Gene ID: 23742 | Gene type: protein coding

About NPAP1

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:24,675,775-24,683,393 (from NCBI)

This gene has 1 transcript (splice variant), 129 orthologues, 6 paralogues and is associated with 1 phenotype.

Summary

This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021]

NPAP1 Products(1)

mRNA	Protein	Name
NM_018958.3	NP_061831.2	nuclear pore-associated protein 1

NPAP1 Protein Structure

POM121

0
200
400
600
800
1000
1156 a.a.

Protein Preferred Names

Protein Names

nuclear pore-associated protein 1

protein C15orf2

Related Diseases

Diseases

Alias

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Schaaf-Yang Syndrome

Prader-Willi-Like Syndrome	Chitayat-Hall Syndrome
SHFYNG	Pwls
Magel2-Related Prader-Willi-Like Syndrome	Magel2-Related Pwls
Arthrogryposis, Distal, With Hypopituitarism, Mental Retardation, And Facial Anomalies	Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial A
Distal Arthrogryposis With Hypopituitarism, Intellectual Disability And Facial Anomalies	Pws Due To A Point Mutation
Pws Due To Point Mutation	Prader-Willi Syndrome Due To A Point Mutation
Prader-Willi Syndrome Due To Point Mutation	Pws-Like

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

Leptin Deficiency Or Dysfunction

Morbid Obesity	Obesity Due To Congenital Leptin Deficiency
LEPD	Congenital Leptin Deficiency
Obesity, Morbid	Obesity, Morbid, Due To Leptin Deficiency
Severe Obesity	Obesity, Morbid, Nonsyndromic 1
Leptin Deficiency	Obesity, Severe, Due To Leptin Deficiency
Leptin	Morbid Obesity Due To Leptin Deficiency
Obesity Morbid	Leptin Dysfunction

Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14	Temple Syndrome Due To Paternal 14q32.2 Microdeletion
Paternal Del(14)(Q32.2)	Temple Syndrome Due To Paternal 14q32.2 Hypomethylation
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Upd(14)Mat

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14	Uniparental Disomy, Paternal, Chromosome 14
Kos	Mca Due To 14q32.2 Maternally Expressed Gene Defect
Paternal Uniparental Disomy 14	Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion
Maternal Del(14)(Q32.2)	Maternal Monosomy 14q32.2
Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation	Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upd(14)Pat

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

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-RS09467	NPAP1 Human Pre-designed siRNA Set A		/	Unkown

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