UniProt:Q9BTX1 NDC1

chain
  • chain:1-674
checksum 78368FEB232895D9
comment
  • FUNCTION Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane.SUBUNIT Interacts with the NUP35/NUP53 (By similarity). Interacts with AAAS, anchoring it to the nuclear envelope.SUBCELLULAR LOCATION Central core structure of the nuclear pore complex.ALTERNATIVE PRODUCTS The disease may be caused by variants affecting the gene represented in this entry.MISCELLANEOUS Depletion of NDC1 from HeLa cells interferes with the assembly of phenylalanine-glycine (FG) repeat Nups into nuclear pore complexes.SIMILARITY Belongs to the NDC1 family.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 239013
description
  • recommendedName: Nucleoporin NDC1 shortName: hNDC1 alternativeName: Transmembrane protein 48
displayName UniProt:Q9BTX1 NDC1
geneName
  • NDC1
  • TMEM48
identifier Q9BTX1
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Intellectual disability
  • Membrane
  • mRNA transport
  • Neuropathy
  • Nuclear pore complex
  • Nucleus
  • Phosphoprotein
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Translocation
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType Protein
name
  • NDC1
otherIdentifier
  • 11749695_a_at
  • 11752409_a_at
  • 11758892_a_at
  • 16687418
  • 218073_PM_s_at
  • 218073_s_at
  • 234672_PM_s_at
  • 234672_s_at
  • 2413429
  • 2413430
  • 2413431
  • 2413432
  • 2413433
  • 2413434
  • 2413439
  • 2413441
  • 2413444
  • 2413448
  • 2413449
  • 2413450
  • 2413451
  • 2413454
  • 2413455
  • 2413456
  • 2413457
  • 2413458
  • 2413459
  • 2413461
  • 2413464
  • 2413466
  • 2413467
  • 2413468
  • 2413470
  • 2413471
  • 2413472
  • 2413473
  • 49444_at
  • 55706
  • 58400_at
  • 7916316
  • A_23_P73982
  • A_24_P222184
  • A_24_P222192
  • GE55839
  • GE82298
  • GO:0005634
  • GO:0005635
  • GO:0005643
  • GO:0005737
  • GO:0005856
  • GO:0005886
  • GO:0006913
  • GO:0006999
  • GO:0007129
  • GO:0007283
  • GO:0015031
  • GO:0015629
  • GO:0016020
  • GO:0017056
  • GO:0022414
  • GO:0030674
  • GO:0031965
  • GO:0051028
  • GO:0051292
  • GO:0051664
  • GO:0060090
  • GO:0065003
  • GO:0070762
  • HMNXSV003049061
  • Hs.30738.1.A1_3p_a_at
  • ILMN_1749930
  • PH_hs_0030232
  • TC01002676.hg
  • TC01005497.hg
  • g8922408_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • NDC1_HUMAN
  • B4DHA3
  • B4DQQ5
  • G3XA81
  • Q8NB76
  • Q9H9T6
  • Q9NSG3
  • Q9NSG4
  • Q9NVZ7
sequenceLength 674
species [Species:48887] Homo sapiens
stId uniprot:Q9BTX1
url http://purl.uniprot.org/uniprot/Q9BTX1
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