Gene Gene information from NCBI Gene database.
Entrez ID 9147
Gene name Nuclear export mediator factor
Gene symbol NEMF
Synonyms (NCBI Gene)
IDDSAPNNY-CO-1RQC2SDCCAG1
Chromosome 14
Chromosome location 14q21.3
Summary This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [
miRNA miRNA information provided by mirtarbase database.
89
miRTarBase ID miRNA Experiments Reference
MIRT031899 hsa-miR-16-5p Proteomics 18668040
MIRT1180527 hsa-miR-133a CLIP-seq
MIRT1180528 hsa-miR-133b CLIP-seq
MIRT1180529 hsa-miR-3148 CLIP-seq
MIRT1180530 hsa-miR-3153 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IBA
GO:0001680 Process TRNA 3'-terminal CCA addition IDA 32075755
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 25578875
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608378 10663 ENSG00000165525
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60524
Protein name Ribosome quality control complex subunit NEMF (Antigen NY-CO-1) (Nuclear export mediator factor) (Serologically defined colon cancer antigen 1)
Protein function Key component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates the extraction of incompletely synthesized nascent chains from stalled ribosomes as well as their ubiquitin-mediated proteasomal degradation
PDB 3J92
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05833 FbpA 6 525 Family
PF05670 NFACT-R_1 529 639 NFACT protein RNA binding domain Domain
PF11923 NFACT-C 973 1066 NFACT protein C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, liver, lung, spleen, and skeletal muscle. Also expressed at lower levels in stomach and testis. {ECO:0000269|PubMed:16103875, ECO:0000269|PubMed:33048237}.
Sequence
MKSRFSTIDLRAVLAELNASLLGMRVNNVYDVDNKTYLIRLQKPDFKATLLLESGIRIHT
TEFEWPKNMMPSSFAMKCRKHLKSRRLVSAKQLGVDRIVDFQFGSDEAAYHLIIELYDRG
NIVLTDYEYVILNILRFRTDEADDVKFAVRERYPLDHARAAEPLLTLERLTEIVASAPKG
ELLKRVLNPLLPYGPALIEHCLLENGFSGNVKVDEKLETKDIEKVLVSLQKAEDYMKTTS
NFSGKGYIIQKREIKPSLEADKPVEDILTYEEFHPFLFSQHSQCPYIEFESFDKAVDEFY
SKIEGQKIDLKALQQEKQALKKLDNVRKDHENRLEALQQAQEIDKLKGELIEMNLQIVDR
AIQVVRSALANQIDWTEIGLIVKEAQAQGDPVASAIKELKLQTNHVTMLLRNPYLLSEEE
DDDVDGDVNVEKNETEPPKGKKKKQKNKQLQKPQKNKPLLVDVDLSLSAYANAKKYYDHK
RYAAKKTQKTVEAAEKAFKSAEKKTKQTLKEVQTVTSIQKARKVY
WFEKFLWFISSENYL
IIGGRDQQQNEIIVKRYLTPGDIYVHADLHGATSCVIKNPTGEPIPPRTLTEAGTMALCY
SAAWDARVITSAWWVYHHQVSKTAPTGEYLTTGSFMIRG
KKNFLPPSYLMMGFSFLFKVD
ESCVWRHQGERKVRVQDEDMETLASCTSELISEEMEQLDGGDTSSDEDKEEHETPVEVEL
MTQVDQEDITLQSGRDELNEELIQEESSEDEGEYEEVRKDQDSVGEMKDEGEETLNYPDT
TIDLSHLQPQRSIQKLASKEESSNSSDSKSQSRRHLSAKERREMKKKKLPSDSGDLEALE
GKDKEKESTVHIETHQNTSKNVAAVQPMKRGQKSKMKKMKEKYKDQDEEDRELIMKLLGS
AGSNKEEKGKKGKKGKTKDEPVKKQPQKPRGGQRVSDNIKKETPFLEVITHELQDFAVDD
PHDDKEEQDLDQQGNEENLFDSLTGQPHPEDVLLFAIPICAPYTTMTNYKYKVKLTPGVQ
KKGKAAKTALNSFMHSKEATAREKDLFRSVKDTDLSRNIPGKVKVS
APNLLNVKRK
Sequence length 1076
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
40
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy Likely pathogenic; Pathogenic rs2139857246, rs371405135, rs2503091962, rs2503270978, rs1892669150, rs765802022, rs766931948, rs1891004545, rs1890324880, rs1890664852, rs1892495985, rs1892495588, rs1892998702 RCV001814944
RCV005406565
RCV003131043
RCV003988280
RCV001267817
RCV005232221
RCV001267813
RCV001267814
RCV001267815
RCV001267816
RCV001267818
RCV001281347
RCV001283802
NEMF-related disorder Likely pathogenic rs2503266718 RCV003402446
See cases Likely pathogenic; Pathogenic rs1892669150, rs1890324880 RCV001198080
RCV003313206
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs184927855 RCV005929297
Familial cancer of breast Likely benign rs148593806 RCV005933196
Hereditary breast ovarian cancer syndrome Uncertain significance rs2168538 RCV001374555
Lung cancer Likely benign rs184927855 RCV005929298
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Obesity Associate 30309776