NPAP1 - nuclear pore associated protein 1 Gene

Also Known as C15orf2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23742

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

POM121: POM121 family (155 - 384)

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  • 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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS09467 NPAP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown