Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	11097
Gene name	Nucleoporin 42
Gene symbol	NUP42
Synonyms (NCBI Gene)	CG1NLP-1NLP1NLP_1NUPL2UIP1hCG1
Chromosome	7
Chromosome location	7p15.3

23 Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005049	Function	Nuclear export signal receptor activity	IBA
GO:0005049	Function	Nuclear export signal receptor activity	IDA	10358091
GO:0005515	Function	Protein binding	IPI	10358091, 22250199, 32296183
GO:0005634	Component	Nucleus	IDA	10358091, 22250199
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IBA
GO:0005635	Component	Nuclear envelope	IDA	22250199
GO:0005635	Component	Nuclear envelope	IDA	24315095
GO:0005643	Component	Nuclear pore	IEA
GO:0005643	Component	Nuclear pore	NAS	24315095
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006611	Process	Protein export from nucleus	IGI	22250199
GO:0006913	Process	Nucleocytoplasmic transport	NAS	27016207
GO:0008270	Function	Zinc ion binding	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0031965	Component	Nuclear membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051028	Process	MRNA transport	IEA

MIM	HGNC	e!Ensembl
619998	17010	ENSG00000136243

Protein Protein information from UniProt database. Download as csv Download as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.	O15504
Protein name	Nucleoporin NUP42 (NLP-1) (NUP42 homolog) (Nucleoporin hCG1) (Nucleoporin-42) (Nucleoporin-like protein 2)
Protein function	Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. ; (Microbial infection) In case of infection by HIV-1, it may participate in the
PDB	6B4F , 6B4I , 6B4J
Family and domains
Tissue specificity	TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269\|PubMed:10358091}.
Sequence	MAICQFFLQGRCRFGDRCWNEHPGARGAGGGRQQPQQQPSGNNRRGWNTTSQRYSNVIQP SSFSKSTPWGGSRDQEKPYFSSFDSGASTNRKEGFGLSENPFASLSPDEQKDEKKLLEGI VKDMEVWESSGQWMFSVYSPVKKKPNISGFTDISPEELRLEYHNFLTSNNLQSYLNSVQR LINQWRNRVNELKSLNISTKVALLSDVKDGVNQAAPAFGFGSSQAATFMSPGFPVNNSSS DNAQNFSFKTNSGFAAASSGSPAGFGSSPAFGAAASTSSGISTSAPAFGFGKPEVTSAAS FSFKSPAASSFGSPGFSGLPASLATGPVRAPVAPAFGGGSSVAGFGSPGSHSHTAFSKPS SDTFGNSSISTSLSASSSIIATDNVLFTPRDKLTVEELEQFQSKKFTLGKIPLKPPPLEL LNV
Sequence length	423
Interactions	View interactions

KEGG Pathway	Reactome Pathway
Nucleocytoplasmic transport	ISG15 antiviral mechanism
	Transport of the SLBP independent Mature mRNA
	Transport of the SLBP Dependant Mature mRNA
	Transport of Mature mRNA Derived from an Intronless Transcript
	Transport of Mature mRNA derived from an Intron-Containing Transcript
	Rev-mediated nuclear export of HIV RNA
	Transport of Ribonucleoproteins into the Host Nucleus
	NS1 Mediated Effects on Host Pathways
	Viral Messenger RNA Synthesis
	NEP/NS2 Interacts with the Cellular Export Machinery
	Regulation of Glucokinase by Glucokinase Regulatory Protein
	Vpr-mediated nuclear import of PICs
	snRNP Assembly
	SUMOylation of DNA damage response and repair proteins
	SUMOylation of ubiquitinylation proteins
	Nuclear Pore Complex (NPC) Disassembly
	Regulation of HSF1-mediated heat shock response
	SUMOylation of SUMOylation proteins
	SUMOylation of chromatin organization proteins
	SUMOylation of RNA binding proteins
	SUMOylation of DNA replication proteins
	Transcriptional regulation by small RNAs
	Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
	tRNA processing in the nucleus
	HCMV Early Events
	HCMV Late Events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	25584925	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29134320	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	17980240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	30367317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25584925		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder)	Deafness	BEFREE	9450185		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17980240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17980240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	8490624		★★★★★ ★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	8490624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	30367317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33523105	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peroxisome biogenesis disorders	Zellweger Syndrome	BEFREE	11330042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25584925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
NUP50	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	[]
NUP210	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	[]
NUP62	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	[]
NUP88	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	[]
NUP54	[]	27	["Nucleocytoplasmic transport","Regulation of HSF1-mediated heat shock response","HCMV Late Events","SUMOylation of DNA damage response and repair proteins","SUMOylation of chromatin organization proteins","SUMOylation of RNA binding proteins","snRNP Assembly","HCMV Early Events","Transport of the SLBP independent Mature mRNA","Transport of the SLBP Dependant Mature mRNA","Transport of Mature mRNA Derived from an Intronless Transcript","Transport of Mature mRNA derived from an Intron-Containing Transcript"]	[]

NUP42 (nucleoporin 42)

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