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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	11321
Gene name	GPN-loop GTPase 1
Gene symbol	GPN1
Synonyms (NCBI Gene)	ATPBD1AMBDINNTPBPRPAP4XAB1
Chromosome	2
Chromosome location	2p23.3
Summary	This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019517	hsa-miR-151a-5p	Sequencing	20371350
MIRT027807	hsa-miR-98-5p	Microarray	19088304
MIRT052371	hsa-let-7a-5p	CLASH	23622248
MIRT044449	hsa-miR-320a	CLASH	23622248
MIRT1029613	hsa-miR-1225-3p	CLIP-seq
MIRT1029614	hsa-miR-361-3p	CLIP-seq
MIRT1029615	hsa-miR-3943	CLIP-seq
MIRT1029616	hsa-miR-4257	CLIP-seq
MIRT1029617	hsa-miR-4277	CLIP-seq
MIRT1029618	hsa-miR-4511	CLIP-seq
MIRT1029619	hsa-miR-4773	CLIP-seq
MIRT1029620	hsa-miR-548b-3p	CLIP-seq
MIRT2005485	hsa-miR-105	CLIP-seq
MIRT2005486	hsa-miR-1264	CLIP-seq
MIRT2005487	hsa-miR-148a	CLIP-seq
MIRT2005488	hsa-miR-148b	CLIP-seq
MIRT2005489	hsa-miR-152	CLIP-seq
MIRT2005490	hsa-miR-1909	CLIP-seq
MIRT2005491	hsa-miR-335	CLIP-seq
MIRT2005492	hsa-miR-3671	CLIP-seq
MIRT2005493	hsa-miR-3691-3p	CLIP-seq
MIRT1029617	hsa-miR-4277	CLIP-seq
MIRT2005494	hsa-miR-502-5p	CLIP-seq
MIRT2005495	hsa-miR-548k	CLIP-seq
MIRT2005496	hsa-miR-548n	CLIP-seq
MIRT2005497	hsa-miR-582-5p	CLIP-seq
MIRT2005498	hsa-miR-600	CLIP-seq
MIRT2005499	hsa-miR-607	CLIP-seq
MIRT2005500	hsa-miR-891b	CLIP-seq
MIRT2450562	hsa-miR-1275	CLIP-seq
MIRT2450563	hsa-miR-1284	CLIP-seq
MIRT2450564	hsa-miR-1305	CLIP-seq
MIRT2005487	hsa-miR-148a	CLIP-seq
MIRT2005488	hsa-miR-148b	CLIP-seq
MIRT2005489	hsa-miR-152	CLIP-seq
MIRT2005490	hsa-miR-1909	CLIP-seq
MIRT2450565	hsa-miR-3065-5p	CLIP-seq
MIRT2450566	hsa-miR-320e	CLIP-seq
MIRT2005491	hsa-miR-335	CLIP-seq
MIRT2450567	hsa-miR-337-3p	CLIP-seq
MIRT2450568	hsa-miR-3920	CLIP-seq
MIRT2450569	hsa-miR-421	CLIP-seq
MIRT2450570	hsa-miR-431	CLIP-seq
MIRT2450571	hsa-miR-4320	CLIP-seq
MIRT2450572	hsa-miR-451b	CLIP-seq
MIRT2450573	hsa-miR-4525	CLIP-seq
MIRT2450574	hsa-miR-4665-5p	CLIP-seq
MIRT2450575	hsa-miR-4723-5p	CLIP-seq
MIRT2450576	hsa-miR-4731-5p	CLIP-seq
MIRT2450577	hsa-miR-4762-3p	CLIP-seq
MIRT2450578	hsa-miR-494	CLIP-seq
MIRT2450579	hsa-miR-495	CLIP-seq
MIRT2450580	hsa-miR-556-5p	CLIP-seq
MIRT2005497	hsa-miR-582-5p	CLIP-seq
MIRT2450581	hsa-miR-610	CLIP-seq
MIRT2450582	hsa-miR-625	CLIP-seq
MIRT2450583	hsa-miR-637	CLIP-seq
MIRT2450584	hsa-miR-664	CLIP-seq
MIRT2005485	hsa-miR-105	CLIP-seq
MIRT2542061	hsa-miR-1226	CLIP-seq
MIRT2542062	hsa-miR-1261	CLIP-seq
MIRT2450562	hsa-miR-1275	CLIP-seq
MIRT2450563	hsa-miR-1284	CLIP-seq
MIRT2542063	hsa-miR-1299	CLIP-seq
MIRT2450564	hsa-miR-1305	CLIP-seq
MIRT2005487	hsa-miR-148a	CLIP-seq
MIRT2005488	hsa-miR-148b	CLIP-seq
MIRT2005489	hsa-miR-152	CLIP-seq
MIRT2542064	hsa-miR-15a	CLIP-seq
MIRT2542065	hsa-miR-15b	CLIP-seq
MIRT2542066	hsa-miR-16	CLIP-seq
MIRT2005490	hsa-miR-1909	CLIP-seq
MIRT2542067	hsa-miR-195	CLIP-seq
MIRT2542068	hsa-miR-204	CLIP-seq
MIRT2542069	hsa-miR-211	CLIP-seq
MIRT2542070	hsa-miR-214	CLIP-seq
MIRT2450565	hsa-miR-3065-5p	CLIP-seq
MIRT2542071	hsa-miR-3154	CLIP-seq
MIRT2542072	hsa-miR-3189-3p	CLIP-seq
MIRT2542073	hsa-miR-3200-5p	CLIP-seq
MIRT2450566	hsa-miR-320e	CLIP-seq
MIRT2542074	hsa-miR-323-5p	CLIP-seq
MIRT2005491	hsa-miR-335	CLIP-seq
MIRT2450567	hsa-miR-337-3p	CLIP-seq
MIRT2542075	hsa-miR-3619-5p	CLIP-seq
MIRT2005492	hsa-miR-3671	CLIP-seq
MIRT2450568	hsa-miR-3920	CLIP-seq
MIRT2542076	hsa-miR-3975	CLIP-seq
MIRT2542077	hsa-miR-3976	CLIP-seq
MIRT2450569	hsa-miR-421	CLIP-seq
MIRT2542078	hsa-miR-424	CLIP-seq
MIRT2542079	hsa-miR-4291	CLIP-seq
MIRT2450570	hsa-miR-431	CLIP-seq
MIRT2450571	hsa-miR-4320	CLIP-seq
MIRT2542080	hsa-miR-4446-5p	CLIP-seq
MIRT2450572	hsa-miR-451b	CLIP-seq
MIRT2450573	hsa-miR-4525	CLIP-seq
MIRT2542081	hsa-miR-4649-3p	CLIP-seq
MIRT2450574	hsa-miR-4665-5p	CLIP-seq
MIRT2542082	hsa-miR-4715-3p	CLIP-seq
MIRT2450575	hsa-miR-4723-5p	CLIP-seq
MIRT2450576	hsa-miR-4731-5p	CLIP-seq
MIRT2542083	hsa-miR-4733-3p	CLIP-seq
MIRT2542084	hsa-miR-4755-5p	CLIP-seq
MIRT2450577	hsa-miR-4762-3p	CLIP-seq
MIRT2542085	hsa-miR-4768-3p	CLIP-seq
MIRT2542086	hsa-miR-4782-5p	CLIP-seq
MIRT2450578	hsa-miR-494	CLIP-seq
MIRT2450579	hsa-miR-495	CLIP-seq
MIRT2542087	hsa-miR-497	CLIP-seq
MIRT2005494	hsa-miR-502-5p	CLIP-seq
MIRT2542088	hsa-miR-516b	CLIP-seq
MIRT2542089	hsa-miR-545	CLIP-seq
MIRT2005495	hsa-miR-548k	CLIP-seq
MIRT2005496	hsa-miR-548n	CLIP-seq
MIRT2542090	hsa-miR-548p	CLIP-seq
MIRT2450580	hsa-miR-556-5p	CLIP-seq
MIRT2005497	hsa-miR-582-5p	CLIP-seq
MIRT2005498	hsa-miR-600	CLIP-seq
MIRT2542091	hsa-miR-604	CLIP-seq
MIRT2005499	hsa-miR-607	CLIP-seq
MIRT2450581	hsa-miR-610	CLIP-seq
MIRT2542092	hsa-miR-623	CLIP-seq
MIRT2450582	hsa-miR-625	CLIP-seq
MIRT2450583	hsa-miR-637	CLIP-seq
MIRT2542093	hsa-miR-647	CLIP-seq
MIRT2450584	hsa-miR-664	CLIP-seq
MIRT2542094	hsa-miR-665	CLIP-seq
MIRT2542095	hsa-miR-761	CLIP-seq
MIRT2005500	hsa-miR-891b	CLIP-seq
MIRT2542096	hsa-miR-922	CLIP-seq
MIRT2542061	hsa-miR-1226	CLIP-seq
MIRT2542062	hsa-miR-1261	CLIP-seq
MIRT2450562	hsa-miR-1275	CLIP-seq
MIRT2450563	hsa-miR-1284	CLIP-seq
MIRT2542063	hsa-miR-1299	CLIP-seq
MIRT2450564	hsa-miR-1305	CLIP-seq
MIRT2005487	hsa-miR-148a	CLIP-seq
MIRT2005488	hsa-miR-148b	CLIP-seq
MIRT2005489	hsa-miR-152	CLIP-seq
MIRT2542064	hsa-miR-15a	CLIP-seq
MIRT2542065	hsa-miR-15b	CLIP-seq
MIRT2542066	hsa-miR-16	CLIP-seq
MIRT2005490	hsa-miR-1909	CLIP-seq
MIRT2542067	hsa-miR-195	CLIP-seq
MIRT2542068	hsa-miR-204	CLIP-seq
MIRT2542069	hsa-miR-211	CLIP-seq
MIRT2542070	hsa-miR-214	CLIP-seq
MIRT2450565	hsa-miR-3065-5p	CLIP-seq
MIRT2542071	hsa-miR-3154	CLIP-seq
MIRT2542072	hsa-miR-3189-3p	CLIP-seq
MIRT2542073	hsa-miR-3200-5p	CLIP-seq
MIRT2450566	hsa-miR-320e	CLIP-seq
MIRT2542074	hsa-miR-323-5p	CLIP-seq
MIRT2005491	hsa-miR-335	CLIP-seq
MIRT2450567	hsa-miR-337-3p	CLIP-seq
MIRT2542075	hsa-miR-3619-5p	CLIP-seq
MIRT2450568	hsa-miR-3920	CLIP-seq
MIRT2542076	hsa-miR-3975	CLIP-seq
MIRT2542077	hsa-miR-3976	CLIP-seq
MIRT2450569	hsa-miR-421	CLIP-seq
MIRT2542078	hsa-miR-424	CLIP-seq
MIRT2542079	hsa-miR-4291	CLIP-seq
MIRT2450570	hsa-miR-431	CLIP-seq
MIRT2450571	hsa-miR-4320	CLIP-seq
MIRT2542080	hsa-miR-4446-5p	CLIP-seq
MIRT2450572	hsa-miR-451b	CLIP-seq
MIRT2450573	hsa-miR-4525	CLIP-seq
MIRT2542081	hsa-miR-4649-3p	CLIP-seq
MIRT2450574	hsa-miR-4665-5p	CLIP-seq
MIRT2542082	hsa-miR-4715-3p	CLIP-seq
MIRT2450575	hsa-miR-4723-5p	CLIP-seq
MIRT2450576	hsa-miR-4731-5p	CLIP-seq
MIRT2542083	hsa-miR-4733-3p	CLIP-seq
MIRT2542084	hsa-miR-4755-5p	CLIP-seq
MIRT2450577	hsa-miR-4762-3p	CLIP-seq
MIRT2542085	hsa-miR-4768-3p	CLIP-seq
MIRT2542086	hsa-miR-4782-5p	CLIP-seq
MIRT2450578	hsa-miR-494	CLIP-seq
MIRT2450579	hsa-miR-495	CLIP-seq
MIRT2542087	hsa-miR-497	CLIP-seq
MIRT2005494	hsa-miR-502-5p	CLIP-seq
MIRT2542088	hsa-miR-516b	CLIP-seq
MIRT2542089	hsa-miR-545	CLIP-seq
MIRT2005495	hsa-miR-548k	CLIP-seq
MIRT2005496	hsa-miR-548n	CLIP-seq
MIRT2542090	hsa-miR-548p	CLIP-seq
MIRT2005497	hsa-miR-582-5p	CLIP-seq
MIRT2005498	hsa-miR-600	CLIP-seq
MIRT2542091	hsa-miR-604	CLIP-seq
MIRT2542092	hsa-miR-623	CLIP-seq
MIRT2450582	hsa-miR-625	CLIP-seq
MIRT2450583	hsa-miR-637	CLIP-seq
MIRT2542093	hsa-miR-647	CLIP-seq
MIRT2450584	hsa-miR-664	CLIP-seq
MIRT2542094	hsa-miR-665	CLIP-seq
MIRT2542095	hsa-miR-761	CLIP-seq
MIRT2005500	hsa-miR-891b	CLIP-seq
MIRT2542096	hsa-miR-922	CLIP-seq

Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	24981860, 25241168, 28514442, 32296183, 33961781, 35271311
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0016787	Function	Hydrolase activity	IEA

MIM	HGNC	e!Ensembl
611479	17030	ENSG00000198522

Q9HCN4

Protein name

GPN-loop GTPase 1 (EC 3.6.5.-) (MBD2-interacting protein) (MBDin) (RNAPII-associated protein 4) (XPA-binding protein 1)

Protein function

Small GTPase required for proper nuclear import of RNA polymerase II (RNAPII) (PubMed:20855544, PubMed:21768307). May act at an RNAP assembly step prior to nuclear import (PubMed:21768307). Forms an interface between the RNA polymerase II enzyme

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03029	ATP_bind_1	24 → 264	Conserved hypothetical ATP binding protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously.

Sequence

MAASAAAAELQASGGPRHPVCLLVLGMAGSGKTTFVQRLTGHLHAQGTPPYVINLDPAVH
EVPFPANIDIRDTVKYKEVMKQYGLGPNGGIVTSLNLFATRFDQVMKFIEKAQNMSKYVL
IDTPGQIEVFTWSASGTIITEALASSFPTVVIYVMDTSRSTNPVTFMSNMLYACSILYKT
KLPFIVVMNKTDIIDHSFAVEWMQDFEAFQDALNQETTYVSNLTRSMSLVLDEFYSSLRV
VGVSAVLGTGLDELFVQVTSAAEEYEREYRPEYERLKKSLANAESQQQREQLERLRKDMG
SVALDAGTAKDSLSPVLHPSDLILTRGTLDEEDEEADSDTDDIDHRVTEESHEEPAFQNF
MQESMAQYWKRNNK

Sequence length

374

Interactions

View interactions

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	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.
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	21768215, 23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21411509	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	21768215, 23263486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermaphroditism	Hermaphroditism	BEFREE	29559501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of anterior portion of floor of mouth	Malignant Neoplasm Of Anterior Portion Of Floor Of Mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of floor of mouth	Malignant neoplasm of floor of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lateral floor of mouth	Malignant tumor of lateral floor of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of other sites within the lip and oral cavity	Malignant Neoplasm Of Lip And Oral Cavity	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of other specified parts of mouth	Malignant Neoplasm Of Mouth	GWASCAT_DG	27749845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28940195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33046735	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	21386085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	27749845		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	27749845	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

GPN1 (GPN-loop GTPase 1)