Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23534
Gene name Gene Name - the full gene name approved by the HGNC.	Transportin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TNPO3
Synonyms (NCBI Gene) Gene synonyms aliases	IPO12, LGMD1F, LGMDD2, MTR10A, TRN-SR, TRN-SR2, TRNSR
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction wi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs61756249	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs61756250	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs140709222	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs140754153	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs141881594	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs142268279	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148885407	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs201210726	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs567711266	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587777430	T>-	Pathogenic	Frameshift variant, terminator codon variant, non coding transcript variant, stop lost
rs587777431	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs750548861	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs769500215	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs773574448	A>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant
rs1563083759	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1585339231	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019682	hsa-miR-375	Microarray	20215506
MIRT025217	hsa-miR-34a-5p	Proteomics	21566225
MIRT025217	hsa-miR-34a-5p	Proteomics	21566225
MIRT028439	hsa-miR-30a-5p	Proteomics	18668040
MIRT030364	hsa-miR-24-3p	Microarray	19748357
MIRT031422	hsa-miR-16-5p	Proteomics	18668040
MIRT031422	hsa-miR-16-5p	CLASH	23622248
MIRT050985	hsa-miR-17-5p	CLASH	23622248
MIRT046428	hsa-miR-15b-5p	CLASH	23622248
MIRT045648	hsa-miR-149-5p	CLASH	23622248
MIRT042607	hsa-miR-423-3p	CLASH	23622248
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT698144	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT698142	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT698143	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT698141	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT665696	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT665697	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT665695	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT665694	hsa-miR-940	HITS-CLIP	23824327
MIRT665693	hsa-miR-3929	HITS-CLIP	23824327
MIRT665692	hsa-miR-4419b	HITS-CLIP	23824327
MIRT665691	hsa-miR-4478	HITS-CLIP	23824327
MIRT665690	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT665689	hsa-miR-4459	HITS-CLIP	23824327
MIRT665688	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT665687	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT665686	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT665685	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT665684	hsa-miR-1827	HITS-CLIP	23824327
MIRT665683	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT665682	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT665681	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT665680	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT665679	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT665678	hsa-miR-711	HITS-CLIP	23824327
MIRT665677	hsa-miR-665	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT652315	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT515632	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT515631	hsa-miR-5693	PAR-CLIP	21572407
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT515628	hsa-miR-4284	PAR-CLIP	21572407
MIRT030364	hsa-miR-24-3p	PAR-CLIP	21572407
MIRT515626	hsa-miR-7977	PAR-CLIP	21572407
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	23446348
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515632	hsa-miR-383-3p	PAR-CLIP	23446348
MIRT515631	hsa-miR-5693	PAR-CLIP	23446348
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	23446348
MIRT515629	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT515628	hsa-miR-4284	PAR-CLIP	23446348
MIRT030364	hsa-miR-24-3p	PAR-CLIP	23446348
MIRT515627	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT515626	hsa-miR-7977	PAR-CLIP	23446348
MIRT515625	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT439407	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT439407	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT715368	hsa-miR-4760-3p	HITS-CLIP	19536157
MIRT715367	hsa-miR-3607-5p	HITS-CLIP	19536157
MIRT715366	hsa-miR-4286	HITS-CLIP	19536157
MIRT715365	hsa-miR-1257	HITS-CLIP	19536157
MIRT715364	hsa-miR-6516-3p	HITS-CLIP	19536157
MIRT698144	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT698142	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT698143	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT698141	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT665696	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT665697	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT665695	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT665694	hsa-miR-940	HITS-CLIP	23824327
MIRT665693	hsa-miR-3929	HITS-CLIP	23824327
MIRT665692	hsa-miR-4419b	HITS-CLIP	23824327
MIRT665691	hsa-miR-4478	HITS-CLIP	23824327
MIRT665690	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT665689	hsa-miR-4459	HITS-CLIP	23824327
MIRT665688	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT665687	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT665686	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT665685	hsa-miR-767-3p	HITS-CLIP	23824327
MIRT665684	hsa-miR-1827	HITS-CLIP	23824327
MIRT665683	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT665682	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT665681	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT665680	hsa-miR-3934-3p	HITS-CLIP	23824327
MIRT665679	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT665678	hsa-miR-711	HITS-CLIP	23824327
MIRT665677	hsa-miR-665	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT652315	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT621732	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT621731	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT621730	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT621729	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	21572407
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	21572407
MIRT515632	hsa-miR-383-3p	PAR-CLIP	21572407
MIRT515631	hsa-miR-5693	PAR-CLIP	21572407
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	21572407
MIRT515628	hsa-miR-4284	PAR-CLIP	21572407
MIRT030364	hsa-miR-24-3p	PAR-CLIP	21572407
MIRT515626	hsa-miR-7977	PAR-CLIP	21572407
MIRT515634	hsa-miR-5588-3p	PAR-CLIP	23446348
MIRT515633	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515632	hsa-miR-383-3p	PAR-CLIP	23446348
MIRT515631	hsa-miR-5693	PAR-CLIP	23446348
MIRT515630	hsa-miR-20b-3p	PAR-CLIP	23446348
MIRT515629	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT515628	hsa-miR-4284	PAR-CLIP	23446348
MIRT030364	hsa-miR-24-3p	PAR-CLIP	23446348
MIRT515627	hsa-miR-143-5p	PAR-CLIP	23446348
MIRT515626	hsa-miR-7977	PAR-CLIP	23446348
MIRT515625	hsa-miR-6776-5p	PAR-CLIP	23446348
MIRT1444500	hsa-miR-1207-5p	CLIP-seq
MIRT1444501	hsa-miR-129-3p	CLIP-seq
MIRT1444502	hsa-miR-146b-3p	CLIP-seq
MIRT1444503	hsa-miR-147b	CLIP-seq
MIRT1444504	hsa-miR-185	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT1444506	hsa-miR-210	CLIP-seq
MIRT1444507	hsa-miR-30a	CLIP-seq
MIRT1444508	hsa-miR-30b	CLIP-seq
MIRT1444509	hsa-miR-30c	CLIP-seq
MIRT1444510	hsa-miR-30d	CLIP-seq
MIRT1444511	hsa-miR-30e	CLIP-seq
MIRT1444512	hsa-miR-3123	CLIP-seq
MIRT1444513	hsa-miR-3173-3p	CLIP-seq
MIRT1444514	hsa-miR-3175	CLIP-seq
MIRT1444515	hsa-miR-329	CLIP-seq
MIRT1444516	hsa-miR-33a	CLIP-seq
MIRT1444517	hsa-miR-33b	CLIP-seq
MIRT1444518	hsa-miR-3607-3p	CLIP-seq
MIRT1444519	hsa-miR-3646	CLIP-seq
MIRT1444520	hsa-miR-3692	CLIP-seq
MIRT1444521	hsa-miR-3942-3p	CLIP-seq
MIRT1444522	hsa-miR-425	CLIP-seq
MIRT1444523	hsa-miR-4256	CLIP-seq
MIRT1444524	hsa-miR-4281	CLIP-seq
MIRT1444525	hsa-miR-4306	CLIP-seq
MIRT1444526	hsa-miR-4311	CLIP-seq
MIRT1444527	hsa-miR-4501	CLIP-seq
MIRT1444528	hsa-miR-4644	CLIP-seq
MIRT1444529	hsa-miR-4687-5p	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444531	hsa-miR-4736	CLIP-seq
MIRT1444532	hsa-miR-4740-3p	CLIP-seq
MIRT1444533	hsa-miR-4763-3p	CLIP-seq
MIRT1444534	hsa-miR-4779	CLIP-seq
MIRT1444535	hsa-miR-4780	CLIP-seq
MIRT1444536	hsa-miR-4803	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444538	hsa-miR-579	CLIP-seq
MIRT1444539	hsa-miR-623	CLIP-seq
MIRT1444540	hsa-miR-642b	CLIP-seq
MIRT1444541	hsa-miR-802	CLIP-seq
MIRT1444542	hsa-miR-887	CLIP-seq
MIRT1444543	hsa-miR-933	CLIP-seq
MIRT1444500	hsa-miR-1207-5p	CLIP-seq
MIRT1444544	hsa-miR-1301	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT1444545	hsa-miR-3121-5p	CLIP-seq
MIRT1444512	hsa-miR-3123	CLIP-seq
MIRT1444546	hsa-miR-3179	CLIP-seq
MIRT1444547	hsa-miR-3611	CLIP-seq
MIRT1444521	hsa-miR-3942-3p	CLIP-seq
MIRT1444523	hsa-miR-4256	CLIP-seq
MIRT1444524	hsa-miR-4281	CLIP-seq
MIRT1444548	hsa-miR-4446-3p	CLIP-seq
MIRT1444527	hsa-miR-4501	CLIP-seq
MIRT1444549	hsa-miR-4660	CLIP-seq
MIRT1444550	hsa-miR-4687-3p	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444531	hsa-miR-4736	CLIP-seq
MIRT1444532	hsa-miR-4740-3p	CLIP-seq
MIRT1444533	hsa-miR-4763-3p	CLIP-seq
MIRT1444551	hsa-miR-4778-3p	CLIP-seq
MIRT1444552	hsa-miR-4793-3p	CLIP-seq
MIRT1444553	hsa-miR-483-3p	CLIP-seq
MIRT1444554	hsa-miR-494	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444555	hsa-miR-5047	CLIP-seq
MIRT1444542	hsa-miR-887	CLIP-seq
MIRT2133029	hsa-miR-1228	CLIP-seq
MIRT2133030	hsa-miR-1262	CLIP-seq
MIRT2133031	hsa-miR-3064-3p	CLIP-seq
MIRT1444516	hsa-miR-33a	CLIP-seq
MIRT1444517	hsa-miR-33b	CLIP-seq
MIRT2133032	hsa-miR-3620	CLIP-seq
MIRT2133033	hsa-miR-3920	CLIP-seq
MIRT2133034	hsa-miR-4277	CLIP-seq
MIRT2133035	hsa-miR-4282	CLIP-seq
MIRT2133036	hsa-miR-4474-5p	CLIP-seq
MIRT2133037	hsa-miR-4652-3p	CLIP-seq
MIRT2133038	hsa-miR-4701-3p	CLIP-seq
MIRT2133039	hsa-miR-4727-5p	CLIP-seq
MIRT2133040	hsa-miR-4749-3p	CLIP-seq
MIRT2133041	hsa-miR-4762-3p	CLIP-seq
MIRT2133042	hsa-miR-4769-3p	CLIP-seq
MIRT1444536	hsa-miR-4803	CLIP-seq
MIRT1444538	hsa-miR-579	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT1444541	hsa-miR-802	CLIP-seq
MIRT2354087	hsa-miR-371b-3p	CLIP-seq
MIRT2354088	hsa-miR-4290	CLIP-seq
MIRT2354089	hsa-miR-4768-5p	CLIP-seq
MIRT2354090	hsa-miR-495	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT2354091	hsa-miR-654-3p	CLIP-seq
MIRT2462113	hsa-miR-4469	CLIP-seq
MIRT2354089	hsa-miR-4768-5p	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT2462113	hsa-miR-4469	CLIP-seq
MIRT1444530	hsa-miR-4725-5p	CLIP-seq
MIRT1444537	hsa-miR-504	CLIP-seq
MIRT1444501	hsa-miR-129-3p	CLIP-seq
MIRT1444502	hsa-miR-146b-3p	CLIP-seq
MIRT1444505	hsa-miR-188-5p	CLIP-seq
MIRT2693806	hsa-miR-27a	CLIP-seq
MIRT2693807	hsa-miR-27b	CLIP-seq
MIRT1444507	hsa-miR-30a	CLIP-seq
MIRT1444508	hsa-miR-30b	CLIP-seq
MIRT1444509	hsa-miR-30c	CLIP-seq
MIRT1444510	hsa-miR-30d	CLIP-seq
MIRT1444511	hsa-miR-30e	CLIP-seq
MIRT1444518	hsa-miR-3607-3p	CLIP-seq
MIRT1444529	hsa-miR-4687-5p	CLIP-seq
MIRT1444535	hsa-miR-4780	CLIP-seq
MIRT2693808	hsa-miR-513a-5p	CLIP-seq
MIRT1444539	hsa-miR-623	CLIP-seq
MIRT2133043	hsa-miR-642a	CLIP-seq
MIRT1444540	hsa-miR-642b	CLIP-seq

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12628928, 15829567, 22872640, 24449914, 30916345, 31465518, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	31192305
GO:0005635	Component	Nuclear envelope	IEA
GO:0005642	Component	Annulate lamellae	IDA	31192305
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006606	Process	Protein import into nucleus	IBA
GO:0006606	Process	Protein import into nucleus	IDA	12628928, 24449914, 30916345, 31465518
GO:0006606	Process	Protein import into nucleus	IEA
GO:0015031	Process	Protein transport	IEA
GO:0031267	Function	Small GTPase binding	IDA	23878195, 24449914
GO:0042802	Function	Identical protein binding	IPI	22872640
GO:0061608	Function	Nuclear import signal receptor activity	TAS	10366588

MIM	HGNC	e!Ensembl
610032	17103	ENSG00000064419

Protein

UniProt ID

Q9Y5L0

Protein name

Transportin-3 (Importin-12) (Imp12) (Transportin-SR) (TRN-SR)

Protein function

Importin, which transports target proteins into the nucleus (PubMed:10366588, PubMed:10713112, PubMed:11517331, PubMed:12628928, PubMed:24449914). Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as

PDB

4C0O , 4C0P , 4C0Q , 4OL0 , 6GX9 , 8CMK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08389	Xpo1	101 → 249	Exportin 1-like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:23667635}.

Sequence

MEGAKPTLQLVYQAVQALYHDPDPSGKERASFWLGELQRSVHAWEISDQLLQIRQDVESC
YFAAQTMKMKIQTSFYELPTDSHASLRDSLLTHIQNLKDLSPVIVTQLALAIADLALQMP
SWKGCVQTLVEKYSNDVTSLPFLLEILTVLPEEVHSRSLRIGANRRTEIIEDLAFYSSTV
VSLLMTCVEKAGTDEKMLMKVFRCLGSWFNLGVLDSNFMANNKLLALLFEVLQQDKTSSN
LHEAASDCVCSALYAIENVETNLPLAMQLFQGVLTLETAYHMAVAREDLDKVLNYCRIFT
ELCETFLEKIVCTPGQGLGDLRTLELLLICAGHPQYEVVEISFNFWYRLGEHLYKTNDEV
IHGIFKAYIQRLLHALARHCQLEPDHEGVPEETDDFGEFRMRVSDLVKDLIFLIGSMECF
AQLYSTLKEGNPPWEVTEAVLFIMAAIAKSVDPENNPTLVEVLEGVVRLPETVHTAVRYT
SIELVGEMSEVVDRNPQFLDPVLGYLMKGLCEKPLASAAAKAIHNICSVCRDHMAQHFNG
LLEIARSLDSFLLSPEAAVGLLKGTALVLARLPLDKITECLSELCSVQVMALKKLLSQEP
SNGISSDPTVFLDRLAVIFRHTNPIVENGQTHPCQKVIQEIWPVLSETLNKHRADNRIVE
RCCRCLRFAVRCVGKGSAALLQPLVTQMVNVYHVHQHSCFLYLGSILVDEYGMEEGCRQG
LLDMLQALCIPTFQLLEQQNGLQNHPDTVDDLFRLATRFIQRSPVTLLRSQVVIPILQWA
IASTTLDHRDANCSVMRFLRDLIHTGVANDHEEDFELRKELIGQVMNQLGQQLVSQLLHT
CCFCLPPYTLPDVAEVLWEIMQVDRPTFCRWLENSLKGLPKETTVGAVTVTHKQLTDFHK
QVTSAEECKQVCWALRDFTRLFR

Sequence length

923

Interactions

View interactions

	KEGG
	Nucleocytoplasmic transport Viral life cycle - HIV-1

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Limb-girdle muscular dystrophy	Autosomal dominant limb-girdle muscular dystrophy type 1F	rs587777430, rs587777431, rs1563083759	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Cholangitis	Primary biliary cholangitis	N/A	N/A	GWAS
Biliary Cirrhosis	Primary biliary cirrhosis	N/A	N/A	GWAS
Diffuse Cutaneous Systemic Sclerosis	Diffuse cutaneous systemic sclerosis	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS
Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	21807777, 27092776, 31169264
Autism Spectrum Disorder	Associate	31674007
Autoimmune Diseases	Associate	20639879, 25205108
Carcinoma Hepatocellular	Associate	29375210
Carcinoma Renal Cell	Inhibit	35876041
Developmental Disabilities	Associate	31674007
Hepatitis B Chronic	Associate	29375210
HIV Infections	Associate	22398280, 24915079, 28356354, 31465518
Infections	Associate	27783955, 35456945
Influenza Human	Associate	35456945
Liver Cirrhosis	Associate	29375210
Liver Cirrhosis Biliary	Associate	20639879, 20639880, 24915079, 25205108
Lupus Erythematosus Systemic	Associate	17133578, 17189288, 17389033, 18200047, 18668568, 19854706, 20112383, 23372721, 25205108, 26606652, 31421124
Muscular Dystrophies	Associate	23667635
Muscular Dystrophy Limb Girdle Type 1F	Associate	23543484, 23667635, 24915079, 31465518
Neoplasm Metastasis	Inhibit	35876041
Scleroderma Systemic	Associate	22440820, 23372721, 25205108, 31421124, 31980060
Severe Acute Respiratory Syndrome	Associate	31916109
Sjogren's Syndrome	Associate	24097067, 38016737
Virus Diseases	Associate	21326825

TNPO3 (transportin 3)