1. Gene
  2. NUP88 - nucleoporin 88 Gene

NUP88 - nucleoporin 88 Gene

Homo sapiens

Also known as FADS4

Gene ID: 4927 | Gene type: protein coding

About NUP88

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:5,384,833-5,419,662 (from NCBI)

This gene has 33 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 25.7), lymph node (RPKM 15.5) and 25 other tissues.

Summary

The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

NUP88 Products(2)

mRNA Protein Name
NM_001320653.2 NP_001307582.1 nuclear pore complex protein Nup88 isoform 1
NM_002532.6 NP_002523.2 nuclear pore complex protein Nup88 isoform 2

NUP88 Protein Structure

Nup88

Nup88: Nuclear pore component (11 - 741)

  • 0
  • 200
  • 400
  • 600
  • 741 a.a.
Protein Preferred Names Protein Names

nuclear pore complex protein Nup88

karyoporin

NUP88 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
NUP88 Q99567 TFIP11 Homo sapiens Q9UBB9 32296183
Intra
NUP88 Q99567 NUP214 Homo sapiens P35658 33961781
Intra
NUP88 Q99567 NUP62 Homo sapiens P37198 32296183
Intra
NUP88 Q99567 NUP62 Homo sapiens P37198 32296183
Intra
NUP88 Q99567 NUP62 Homo sapiens P37198 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Fetal Akinesia Deformation Sequence 4

FADS4

Fetal Akinesia Deformation Sequence Syndrome 4

Akinesia, Fetal, Deformation Sequence, Type 4

Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Cranioectodermal Dysplasia 4

CED4

Sensenbrenner Syndrome 4

Dysplasia, Cranioectodermal, Type 4

Anterior Horn Cell Disease
Lethal Congenital Contracture Syndrome 1

LCCS1

Multiple Contracture Syndrome, Finnish Type

Lccs

Lethal Autosomal Recessive Syndrome Of Multiple Congenital Contractures

Lethal Congenital Contracture Syndrome Type 1

Herva Disease

Multiple Contracture Syndrome Finnish Type

Contracture Syndrome, Lethal, Congenital, Type 1

Lethal Congenital Contracture Syndrome

Lccs

Lethal Congenital Contracture Syndrome 1

Polyhydramnios
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

Orthologs Information

Species Symbol Source ID
Macaca mulatta NUP88 VGNC VGNC:75562
Felis catus NUP88 VGNC VGNC:68600
Mus musculus NUP88 MGD MGI:104900
Canis familiaris NUP88 VGNC VGNC:44061
Rattus norvegicus NUP88 RGD RGD:620182
Bos taurus NUP88 VGNC VGNC:32365