1. Gene
  2. NUP85 - nucleoporin 85 Gene

NUP85 - nucleoporin 85 Gene

Homo sapiens

Also known as Nup75; FROUNT; NPHS17

Gene ID: 79902 | Gene type: protein coding

About NUP85

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:75,205,679-75,235,758 (from NCBI)

This gene has 25 transcripts (splice variants), 214 orthologues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 9.1), testis (RPKM 9.0) and 25 other tissues.

Summary

This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

NUP85 Products(3)

mRNA Protein Name
NM_001303276.2 NP_001290205.1 nuclear pore complex protein Nup85 isoform 2
NM_001330472.2 NP_001317401.1 nuclear pore complex protein Nup85 isoform 3
NM_024844.5 NP_079120.1 nuclear pore complex protein Nup85 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15146057 GOA
Biological Process GO Annotation Evidence Reference Source
involved in nephron development IMP
IMP: Inferred from mutant phenotype
30179222 GOA
Cellular Component GO Annotation Evidence Reference Source
colocalizes with kinetochore IDA
IDA: Inferred from direct assay
15146057 GOA
located in nuclear envelope IDA
IDA: Inferred from direct assay
24315095 GOA
part of nuclear pore outer ring IDA
IDA: Inferred from direct assay
15146057 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

NUP85 Protein Structure

Nucleopor_Nup85

Nucleopor_Nup85: Nup85 Nucleoporin (53 - 607)

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

nuclear pore complex protein Nup85

nucleoporin 85kDa

NUP85 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
NUP85 Q9BW27 CCR2 Homo sapiens P41597-2
SPR
25283965
Intra
NUP85 Q9BW27 CCR2 Homo sapiens P41597-2
NMR
25283965
Intra
NUP85 Q9BW27 NUP133 Homo sapiens Q8WUM0 24315095
Intra
NUP85 Q9BW27 NUP160 Homo sapiens Q12769 30179222
Intra
NUP85 Q9BW27 NUP160 Homo sapiens Q12769 24315095
Intra
NUP85 Q9BW27 GET4 Homo sapiens Q7L5D6 32296183
Intra
NUP85 Q9BW27 GET4 Homo sapiens Q7L5D6 32296183
Intra
NUP85 Q9BW27 SEH1L Homo sapiens Q96EE3
GMS
26391640
Intra
NUP85 Q9BW27 SEH1L Homo sapiens Q96EE3 24315095
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 17

NPHS17

Nephrotic Syndrome Type 17

Nephrotic Syndrome 17

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Seckel Syndrome 8

SCKL8

Seckel Syndrome, Type 8

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Rattus norvegicus NUP85 RGD RGD:1311942
Macaca mulatta NUP85 VGNC VGNC:75591
Bos taurus NUP85 VGNC VGNC:32364
Canis familiaris NUP85 VGNC VGNC:44060
Felis catus NUP85 VGNC VGNC:68728
Mus musculus NUP85 MGD MGI:3046173