NMD3 - NMD3 ribosome export adaptor Gene

Also Known as CGI-07

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51068

About NMD3

Cytogenetic location: 3q26.1 Genomic coordinates (GRCh38): 3:161,221,102-161,253,532 (from NCBI)

This gene has 10 transcripts (splice variants) and 211 orthologues. Ubiquitous expression in bone marrow (RPKM 18.0), urinary bladder (RPKM 15.3) and 25 other tissues.

Summary

Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]

NMD3 Products (2)

mRNA Protein Name
NM_001320227.2 NP_001307156.1 60S ribosomal export protein NMD3 isoform 1
NM_015938.5 NP_057022.2 60S ribosomal export protein NMD3 isoform 2
Molecular Function GO Annotation Evidence References Source
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
12773398 GOA
enables ribosomal large subunit binding IDA
IDA: Inferred from direct assay
12773398 GOA
enables ribosomal large subunit binding IPI
IPI: Inferred from physical interaction
12724356 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of RNA biosynthetic process IMP
IMP: Inferred from mutant phenotype
23782956 GOA
involved in positive regulation of protein binding IMP
IMP: Inferred from mutant phenotype
12724356 GOA
involved in positive regulation of protein localization to nucleolus IMP
IMP: Inferred from mutant phenotype
23782956 GOA
involved in ribosomal large subunit export from nucleus IMP
IMP: Inferred from mutant phenotype
12773398 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12724356 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
12773398 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
12773398 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

NMD3 Protein Structure

NMD3

NMD3: NMD3 family (17 - 246)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 503 a.a.
Protein Preferred Names Protein Names

60S ribosomal export protein NMD3

  • NMD3 homolog

Related Diseases

Diseases Alias
Retinitis Pigmentosa 34
  • RP34

Palmoplantar Keratoderma, Bothnian Type
  • PPKB

  • Diffuse Palmoplantar Keratoderma, Bothnian Type

  • Bothnian Type Palmoplantar Keratoderma

  • Keratoderma, Palmoplantar, Bothnian Type

  • Palmoplantar Keratoderma, Nonepidermolytic

Shwachman-Diamond Syndrome 1
  • Shwachman-Diamond Syndrome

  • Shwachman Syndrome

  • Shwachman-Bodian-Diamond Syndrome

  • Sds

  • Pancreatic Insufficiency And Bone Marrow Dysfunction

  • Shwachman-Bodian Syndrome

  • SDS1

  • Lipomatosis Of Pancreas, Congenital

  • Congenital Lipomatosis Of Pancreas

  • Shwachman-Diamond Type Metaphyseal Dysplasia

  • Metaphyseal Chondrodysplasia, Shwachman Type

  • Shwachman-Diamond-Oski Syndrome

Diamond-Blackfan Anemia
  • Congenital Pure Red Cell Aplasia

  • Aase Syndrome

  • Erythrogenesis Imperfecta

  • Anemia, Diamond-Blackfan

  • Congenital Hypoplastic Anemia

  • Aase-Smith Ii Syndrome

  • Bds

  • Blackfan-Diamond Anemia

  • Congenital Prca

  • Congenital Hypoplastic Anemia, Blackfan-Diamond Type

  • Dba

  • Blackfan - Diamond Syndrome

  • Chronic Constitutional Pure Red Cell Anaemia

  • Anemia Diamond Blackfan Type

  • Anemia Congenital Erythroid Hypoplastic

  • Aregenerative Anemia Chronic Congenital

  • Blackfan Diamond Syndrome

  • Red Cell Aplasia, Pure Hereditary

  • Aase-Smith Syndrome Ii

  • Bda

  • Blackfan Diamond Anemia

  • Blackfan-Diamond Disease

  • Blackfan-Diamond Syndrome

  • Chronic Congenital Agenerative Anemia

  • Congenital Erythroid Hypoplastic Anemia

  • Congenital Hypoplastic Anemia Of Blackfan And Diamond

  • Congenital Pure Red Cell Anemia

  • Hypoplastic Congenital Anemia

  • Inherited Erythroblastopenia

  • Pure Hereditary Red Cell Aplasia

  • Anemia, Hypoplastic, Congenital

  • Anemia Hypoplastic Congenital

  • Fanconi Anemia

  • Constitutional Aplastic Anemia

  • Diamond-Blackfan Anemia 1

  • Aase Smith Syndrome 2

  • Congenital Red Cell Aplasia

  • Red Cell Aplasia Of Infants

  • Pure Red Cell Aplasia Of Infants

  • Congenital Red Cell Aplastic Anaemia

  • Congenital Pure Red Cell Anaemia

  • Congenital Erythroid Hypoplasia

  • Pearson Marrow-Pancreas Syndrome

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
Bos taurus NMD3 VGNC VGNC:32125
Mus musculus NMD3 MGD MGI:2140103
Canis familiaris NMD3 VGNC VGNC:43856
Macaca mulatta NMD3 VGNC VGNC:75242
Rattus norvegicus NMD3 RGD RGD:1308468
Felis catus NMD3 VGNC VGNC:63835
Others NMD3 NCBI