NDC1 - NDC1 transmembrane nucleoporin Gene

Also Known as NET3; TMEM48

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55706

About NDC1

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:53,765,478-53,838,296 (from NCBI)

This gene has 2 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues.

Summary

A structural constituent of nuclear pore. Involved in nuclear pore complex assembly and nuclear pore localization. Located in actin cytoskeleton; nuclear membrane; and plasma membrane. Part of nuclear pore. [provided by Alliance of Genome Resources, Apr 2022]

NDC1 Products (2)

mRNA Protein Name
NM_001168551.2 NP_001162023.1 nucleoporin NDC1 isoform 2
NM_018087.5 NP_060557.3 nucleoporin NDC1 isoform 1
Molecular Function GO Annotation Evidence References Source
enables structural constituent of nuclear pore IMP
IMP: Inferred from mutant phenotype
16600873 GOA
Biological Process GO Annotation Evidence References Source
involved in nuclear pore complex assembly IMP
IMP: Inferred from mutant phenotype
16600873 GOA
involved in nuclear pore localization IMP
IMP: Inferred from mutant phenotype
16600873 GOA
Cellular Component GO Annotation Evidence References Source
located in nuclear envelope IDA
IDA: Inferred from direct assay
24315095 GOA
part of nuclear pore IDA
IDA: Inferred from direct assay
16600873 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

NDC1 Protein Structure

Ndc1_Nup

Ndc1_Nup: Nucleoporin protein Ndc1-Nup (19 - 667)

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

nucleoporin NDC1

  • nuclear division cycle 1 homolog

Related Diseases

Diseases Alias
Achalasia-Addisonianism-Alacrima Syndrome
  • Allgrove Syndrome

  • Triple-A Syndrome

  • Achalasia-Addisonianism-Alacrimia Syndrome

  • Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

  • Triple A Syndrome

  • Aaa Syndrome

  • AAAS

  • Glucocorticoid Deficiency With Achalasia

  • Glucocorticoid Deficiency And Achalasia

  • Addisonian-Achalasia Syndrome

  • Hypoadrenalism With Achalasia

  • Alacrima-Achalasia-Addisonianism

  • Aaa

  • Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

  • Achalasia Addisonianism Alacrimia Syndrome

  • Achalasia Alacrima Syndrome

  • Addisonian Achalasia Syndrome

  • Achalasia-Addisonian Syndrome

  • Achalasia-Alacrima Syndrome

  • 2a Syndrome

  • 3a Syndrome

  • 4a Syndrome

  • Adrenal Insufficiency-Achalasia-Alacrima Syndrome

  • Double A Syndrome

  • Quaternary A Syndrome

  • Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

  • Allgrove'S Syndrome

  • Adrenal Gland Hypofunction

  • Adrenal Cortical Hypofunction

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
Canis familiaris NDC1 VGNC VGNC:43669
Felis catus NDC1 VGNC VGNC:63746
Mus musculus NDC1 MGD MGI:1920037
Rattus norvegicus NDC1 RGD RGD:1560173
Bos taurus NDC1 VGNC VGNC:31930
Others NDC1 NCBI