NUP85 - nucleoporin 85 Gene

Also Known as Nup75; FROUNT; NPHS17

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79902

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15146057 GOA
Biological Process GO Annotation Evidence References Source
involved in nephron development IMP
IMP: Inferred from mutant phenotype
30179222 GOA
Cellular Component GO Annotation Evidence References 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 References
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
Others NUP85 NCBI