InnateDB Protein
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IDBP-98762.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TMEM48
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Protein Name
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transmembrane protein 48
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360483
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InnateDB Gene
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IDBG-98760 (TMEM48)
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Protein Structure
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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. {ECO:0000269PubMed:16600873, ECO:0000269PubMed:16702233}.
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Subcellular Localization |
Nucleus, nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note=Central core structure of the nuclear pore complex.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0017056
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structural constituent of nuclear pore
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019049
Nucleoporin protein Ndc1-Nup
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PFAM |
PF09531
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BTX1
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PhosphoSite |
PhosphoSite-Q9BTX1
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TrEMBL |
B4DZG6
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UniProt Splice Variant |
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Entrez Gene |
55706
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UniGene |
Hs.476525
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RefSeq |
NP_060557
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HUGO |
HGNC:25525
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OMIM |
610115
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CCDS |
CCDS583
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HPRD |
08547
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IMGT |
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EMBL |
AK001269
AK022618
AK091439
AK295000
AK298909
AK302910
AL049745
AL354612
AL354613
BC003082
CH471059
DQ141696
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GenPept |
AAH03082
AAZ73087
BAA91592
BAB14135
BAC03665
BAG58064
BAG61017
BAG64078
CAB89725
CAB89726
CAI22180
EAX06731
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