Homo sapiens Protein: TMEM48
Summary
InnateDB Protein IDBP-98762.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM48
Protein Name transmembrane protein 48
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000360483
InnateDB Gene IDBG-98760 (TMEM48)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus, nuclear pore complex. Nucleus membrane; Multi-pass membrane protein. Note=Central core structure of the nuclear pore complex.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 3 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0017056 structural constituent of nuclear pore
Biological Process
GO:0007129 synapsis
GO:0007283 spermatogenesis
GO:0015031 protein transport
GO:0031081 nuclear pore distribution
GO:0051028 mRNA transport
GO:0051292 nuclear pore complex assembly
Cellular Component
GO:0005643 nuclear pore
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0031965 nuclear membrane
Protein Structure and Domains
PDB ID
InterPro IPR019049 Nucleoporin protein Ndc1-Nup
PFAM PF09531
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BTX1
PhosphoSite PhosphoSite-Q9BTX1
TrEMBL B4DZG6
UniProt Splice Variant
Entrez Gene 55706
UniGene Hs.476525
RefSeq NP_060557
HUGO HGNC:25525
OMIM 610115
CCDS CCDS583
HPRD 08547
IMGT
EMBL AK001269 AK022618 AK091439 AK295000 AK298909 AK302910 AL049745 AL354612 AL354613 BC003082 CH471059 DQ141696
GenPept AAH03082 AAZ73087 BAA91592 BAB14135 BAC03665 BAG58064 BAG61017 BAG64078 CAB89725 CAB89726 CAI22180 EAX06731