Q9BTX1 (NDC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 89.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Nucleoporin NDC1 Short name=hNDC1 Alternative name(s): Transmembrane protein 48 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 674 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.8 |
| Subunit structure | Interacts with the NUP35/NUP53 By similarity. |
| Subcellular location | Nucleus › nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note: Central core structure of the nuclear pore complex. Ref.6 Ref.8 |
| Sequence similarities | Belongs to the NDC1 family. |
| Sequence caution | The sequence BAB14135.1 differs from that shown. Reason: Erroneous initiation. The sequence BAC03665.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Translocation Transport mRNA transport |
| Cellular component | Membrane Nuclear pore complex Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane Transmembrane helix |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | mRNA transport Inferred from electronic annotation. Source: UniProtKB-KW nuclear pore complex assemblyInferred from mutant phenotype Ref.8. Source: UniProtKB nuclear pore distributionInferred from mutant phenotype Ref.8. Source: UniProtKB protein transportNon-traceable author statement Ref.8. Source: UniProtKB |
| Cellular_component | nuclear membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear poreInferred from direct assay Ref.8. Source: UniProtKB |
| Molecular_function | structural constituent of nuclear pore Inferred from mutant phenotype Ref.8. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9BTX1-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9BTX1-2) The sequence of this isoform differs from the canonical sequence as follows: 93-93: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9BTX1-3) The sequence of this isoform differs from the canonical sequence as follows: 376-492: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9BTX1-4) The sequence of this isoform differs from the canonical sequence as follows: 509-542: GKTMRQPSVIYSWIQNKREQIKNFLSKRVLIMYF → APRGLHSGCFFRCPNAYLGIRRSVALSSSIIYRG 543-674: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 674 | 674 | Nucleoporin NDC1 | PRO_0000235240 | |||||
Regions | |||||||||
| Topological domain | 1 – 24 | 24 | Cytoplasmic Potential | ||||||
| Transmembrane | 25 – 45 | 21 | Helical; Name=1; Potential | ||||||
| Topological domain | 46 – 68 | 23 | Perinuclear space Potential | ||||||
| Transmembrane | 69 – 89 | 21 | Helical; Name=2; Potential | ||||||
| Topological domain | 90 – 114 | 25 | Cytoplasmic Potential | ||||||
| Transmembrane | 115 – 135 | 21 | Helical; Name=3; Potential | ||||||
| Topological domain | 136 – 165 | 30 | Perinuclear space Potential | ||||||
| Transmembrane | 166 – 186 | 21 | Helical; Name=4; Potential | ||||||
| Topological domain | 187 – 225 | 39 | Cytoplasmic Potential | ||||||
| Transmembrane | 226 – 246 | 21 | Helical; Name=5; Potential | ||||||
| Topological domain | 247 – 272 | 26 | Perinuclear space Potential | ||||||
| Transmembrane | 273 – 293 | 21 | Helical; Name=6; Potential | ||||||
| Topological domain | 294 – 674 | 381 | Cytoplasmic Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 406 | 1 | Phosphoserine Ref.7 Ref.9 Ref.12 | ||||||
| Modified residue | 414 | 1 | Phosphothreonine Ref.12 | ||||||
| Modified residue | 439 | 1 | Phosphoserine Ref.10 | ||||||
| Modified residue | 440 | 1 | Phosphothreonine Ref.10 | ||||||
| Modified residue | 445 | 1 | Phosphoserine Ref.10 Ref.12 | ||||||
| Modified residue | 449 | 1 | Phosphothreonine Ref.10 | ||||||
| Modified residue | 471 | 1 | Phosphoserine Ref.10 Ref.12 | ||||||
| Modified residue | 474 | 1 | Phosphoserine Ref.10 Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 93 | 1 | Missing in isoform 2. | VSP_018396 | |||||
| Alternative sequence | 376 – 492 | 117 | Missing in isoform 3. | VSP_018397 | |||||
| Alternative sequence | 509 – 542 | 34 | GKTMR…LIMYF → APRGLHSGCFFRCPNAYLGI RRSVALSSSIIYRG in isoform 4. | VSP_018398 | |||||
| Alternative sequence | 543 – 674 | 132 | Missing in isoform 4. | VSP_018399 | |||||
| Natural variant | 154 | 1 | G → D. Ref.1 Ref.5 Corresponds to variant rs17849721 [ dbSNP | Ensembl ]. | VAR_026388 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Characterization of NDC1 from metazoa." Stavru F., Goerlich D., Hartmann E. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-154. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 225-674 (ISOFORM 3). Tissue: Brain and Teratocarcinoma. |
| [3] | Rhodes S., Huckle E. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). |
| [4] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-154. Tissue: Brain. |
| [6] | "Nuclear membrane proteins with potential disease links found by subtractive proteomics." Schirmer E.C., Florens L., Guan T., Yates J.R. III, Gerace L. Science 301:1380-1382(2003) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "The conserved transmembrane nucleoporin NDC1 is required for nuclear pore complex assembly in vertebrate cells." Mansfeld J., Guettinger S., Hawryluk-Gara L.A., Pante N., Mall M., Galy V., Haselmann U., Muehlhaeusser P., Wozniak R.W., Mattaj I.W., Kutay U., Antonin W. Mol. Cell 22:93-103(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TOPOLOGY, PHOSPHORYLATION. |
| [9] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-439; THR-440; SER-445; THR-449; SER-471 AND SER-474, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [11] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell. |
| [12] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-406; THR-414; SER-445; SER-471 AND SER-474, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | DQ141696 mRNA. Translation: AAZ73087.1. AK001269 mRNA. Translation: BAA91592.1. AK022618 mRNA. Translation: BAB14135.1. Different initiation. AK091439 mRNA. Translation: BAC03665.1. Different initiation. AL354612 mRNA. Translation: CAB89725.1. AL354613 mRNA. Translation: CAB89726.1. AL049745 Genomic DNA. Translation: CAI22180.1. BC003082 mRNA. Translation: AAH03082.1. |
| IPI | IPI00003455. IPI00074330. IPI00386760. IPI00746642. |
| RefSeq | NP_001162023.1. NM_001168551.1. NP_060557.3. NM_018087.4. |
| UniGene | Hs.476525. |
3D structure databases | |
| ProteinModelPortal | Q9BTX1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9BTX1. 1 interaction. |
| STRING | 9606.ENSP00000360483. |
PTM databases | |
| PhosphoSite | Q9BTX1. |
Polymorphism databases | |
| DMDM | 97180263. |
Proteomic databases | |
| PaxDb | Q9BTX1. |
| PRIDE | Q9BTX1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000371429; ENSP00000360483; ENSG00000058804. ENST00000540001; ENSP00000440873; ENSG00000058804. |
| GeneID | 55706. |
| KEGG | hsa:55706. |
| UCSC | uc001cvs.3. human. |
Organism-specific databases | |
| CTD | 55706. |
| GeneCards | GC01M054231. |
| H-InvDB | HIX0000603. |
| HGNC | HGNC:25525. TMEM48. |
| MIM | 610115. gene. |
| neXtProt | NX_Q9BTX1. |
| PharmGKB | PA142670764. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG298560. |
| HOGENOM | HOG000231135. |
| HOVERGEN | HBG080133. |
| InParanoid | Q9BTX1. |
| KO | K14315. |
| OMA | IFNVEFY. |
| OrthoDB | EOG4KH2TH. |
| PhylomeDB | Q9BTX1. |
Gene expression databases | |
| ArrayExpress | Q9BTX1. |
| Bgee | Q9BTX1. |
| CleanEx | HS_TMEM48. |
| Genevestigator | Q9BTX1. |
| GermOnline | ENSG00000058804. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019049. Nucleoporin_prot_Ndc1/Nup. [Graphical view] |
| Pfam | PF09531. Ndc1_Nup. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | TMEM48. human. |
| GenomeRNAi | 55706. |
| NextBio | 60563. |
| SOURCE | Search... |
Entry information
| Entry name | NDC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BTX1 Secondary accession number(s): Q8NB76 Q9NVZ7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
