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.	11311
Gene name Gene Name - the full gene name approved by the HGNC.	Vacuolar protein sorting 45 homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	VPS45
Synonyms (NCBI Gene) Gene synonyms aliases	H1, H1VPS45, SCN5, VPS45A, VPS45B, VPS54A, VSP45, VSP45A
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SCN5
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.2
Summary Summary of gene provided in NCBI Entrez Gene.	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuol

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs782269909	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255237	C>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1131691903	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

Show/Hide all(232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003873	hsa-miR-15a-5p	Microarray	18362358
MIRT004367	hsa-miR-16-5p	Microarray	18362358
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT025396	hsa-miR-34a-5p	Proteomics	21566225
MIRT048645	hsa-miR-99a-5p	CLASH	23622248
MIRT048519	hsa-miR-100-5p	CLASH	23622248
MIRT045187	hsa-miR-186-5p	CLASH	23622248
MIRT635404	hsa-miR-320a	HITS-CLIP	23824327
MIRT635403	hsa-miR-320b	HITS-CLIP	23824327
MIRT635402	hsa-miR-320c	HITS-CLIP	23824327
MIRT635401	hsa-miR-320d	HITS-CLIP	23824327
MIRT635400	hsa-miR-4429	HITS-CLIP	23824327
MIRT635399	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT635398	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT635397	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT635396	hsa-miR-5695	HITS-CLIP	23824327
MIRT635395	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT635394	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT635404	hsa-miR-320a	HITS-CLIP	23824327
MIRT635403	hsa-miR-320b	HITS-CLIP	23824327
MIRT635402	hsa-miR-320c	HITS-CLIP	23824327
MIRT635401	hsa-miR-320d	HITS-CLIP	23824327
MIRT635400	hsa-miR-4429	HITS-CLIP	23824327
MIRT635399	hsa-miR-6782-3p	HITS-CLIP	23824327
MIRT635398	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT635397	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT635396	hsa-miR-5695	HITS-CLIP	23824327
MIRT635395	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT635394	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT1486976	hsa-miR-1270	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486980	hsa-miR-148a	CLIP-seq
MIRT1486981	hsa-miR-148b	CLIP-seq
MIRT1486982	hsa-miR-152	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486985	hsa-miR-218	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT1486987	hsa-miR-219-5p	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486991	hsa-miR-3168	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT1486996	hsa-miR-3616-5p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486998	hsa-miR-3647-5p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT1487001	hsa-miR-3713	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT1487004	hsa-miR-4254	CLIP-seq
MIRT1487005	hsa-miR-4264	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT1487008	hsa-miR-4417	CLIP-seq
MIRT1487009	hsa-miR-4445	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT1487012	hsa-miR-4683	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT1487017	hsa-miR-4782-3p	CLIP-seq
MIRT1487018	hsa-miR-4795-5p	CLIP-seq
MIRT1487019	hsa-miR-4797-3p	CLIP-seq
MIRT1487020	hsa-miR-4800-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT1487022	hsa-miR-508-3p	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT1487025	hsa-miR-573	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT1487030	hsa-miR-619	CLIP-seq
MIRT1487031	hsa-miR-620	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT1486980	hsa-miR-148a	CLIP-seq
MIRT1486981	hsa-miR-148b	CLIP-seq
MIRT1486982	hsa-miR-152	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487005	hsa-miR-4264	CLIP-seq
MIRT1487019	hsa-miR-4797-3p	CLIP-seq
MIRT2146540	hsa-miR-4802-3p	CLIP-seq
MIRT2146541	hsa-miR-485-3p	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT2660593	hsa-miR-1193	CLIP-seq
MIRT2660594	hsa-miR-1197	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT2660595	hsa-miR-1258	CLIP-seq
MIRT1486976	hsa-miR-1270	CLIP-seq
MIRT2660596	hsa-miR-1273f	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT2660597	hsa-miR-24	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2660598	hsa-miR-3117-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT1487001	hsa-miR-3713	CLIP-seq
MIRT2660599	hsa-miR-3940-5p	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT1487004	hsa-miR-4254	CLIP-seq
MIRT2660600	hsa-miR-4282	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT1487008	hsa-miR-4417	CLIP-seq
MIRT2660601	hsa-miR-4437	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT2660602	hsa-miR-4475	CLIP-seq
MIRT2660603	hsa-miR-4494	CLIP-seq
MIRT2660604	hsa-miR-4507	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT2660605	hsa-miR-4674	CLIP-seq
MIRT1487012	hsa-miR-4683	CLIP-seq
MIRT2660606	hsa-miR-4708-5p	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT2660607	hsa-miR-4786-3p	CLIP-seq
MIRT2660608	hsa-miR-4796-3p	CLIP-seq
MIRT1487020	hsa-miR-4800-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT2660609	hsa-miR-499a-5p	CLIP-seq
MIRT2660610	hsa-miR-548t	CLIP-seq
MIRT2660611	hsa-miR-548u	CLIP-seq
MIRT2660612	hsa-miR-549	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT1487030	hsa-miR-619	CLIP-seq
MIRT1487031	hsa-miR-620	CLIP-seq
MIRT2660613	hsa-miR-671-5p	CLIP-seq
MIRT2660614	hsa-miR-760	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq
MIRT1486974	hsa-miR-1	CLIP-seq
MIRT2660593	hsa-miR-1193	CLIP-seq
MIRT2660594	hsa-miR-1197	CLIP-seq
MIRT2695074	hsa-miR-122	CLIP-seq
MIRT1486975	hsa-miR-1227	CLIP-seq
MIRT2660595	hsa-miR-1258	CLIP-seq
MIRT2660596	hsa-miR-1273f	CLIP-seq
MIRT1486977	hsa-miR-1273g	CLIP-seq
MIRT1486978	hsa-miR-1286	CLIP-seq
MIRT1486979	hsa-miR-143	CLIP-seq
MIRT1486983	hsa-miR-186	CLIP-seq
MIRT1486984	hsa-miR-206	CLIP-seq
MIRT1486986	hsa-miR-219-1-3p	CLIP-seq
MIRT2660597	hsa-miR-24	CLIP-seq
MIRT1486988	hsa-miR-302f	CLIP-seq
MIRT1486989	hsa-miR-3064-3p	CLIP-seq
MIRT2660598	hsa-miR-3117-3p	CLIP-seq
MIRT1486990	hsa-miR-3133	CLIP-seq
MIRT1486992	hsa-miR-3192	CLIP-seq
MIRT1486993	hsa-miR-326	CLIP-seq
MIRT1486994	hsa-miR-330-5p	CLIP-seq
MIRT1486995	hsa-miR-3607-3p	CLIP-seq
MIRT2146539	hsa-miR-3613-3p	CLIP-seq
MIRT1486997	hsa-miR-3647-3p	CLIP-seq
MIRT1486999	hsa-miR-3668	CLIP-seq
MIRT1487000	hsa-miR-3686	CLIP-seq
MIRT2660599	hsa-miR-3940-5p	CLIP-seq
MIRT1487002	hsa-miR-3942-3p	CLIP-seq
MIRT1487003	hsa-miR-3944-5p	CLIP-seq
MIRT2660600	hsa-miR-4282	CLIP-seq
MIRT1487006	hsa-miR-4294	CLIP-seq
MIRT1487007	hsa-miR-4314	CLIP-seq
MIRT2660601	hsa-miR-4437	CLIP-seq
MIRT1487010	hsa-miR-4464	CLIP-seq
MIRT2660602	hsa-miR-4475	CLIP-seq
MIRT2660603	hsa-miR-4494	CLIP-seq
MIRT2660604	hsa-miR-4507	CLIP-seq
MIRT1487011	hsa-miR-4646-5p	CLIP-seq
MIRT2660605	hsa-miR-4674	CLIP-seq
MIRT2660606	hsa-miR-4708-5p	CLIP-seq
MIRT1487013	hsa-miR-4711-3p	CLIP-seq
MIRT1487014	hsa-miR-4722-5p	CLIP-seq
MIRT1487015	hsa-miR-4748	CLIP-seq
MIRT1487016	hsa-miR-4770	CLIP-seq
MIRT2660607	hsa-miR-4786-3p	CLIP-seq
MIRT2660608	hsa-miR-4796-3p	CLIP-seq
MIRT1487021	hsa-miR-494	CLIP-seq
MIRT2660609	hsa-miR-499a-5p	CLIP-seq
MIRT2660610	hsa-miR-548t	CLIP-seq
MIRT2660611	hsa-miR-548u	CLIP-seq
MIRT2660612	hsa-miR-549	CLIP-seq
MIRT1487023	hsa-miR-569	CLIP-seq
MIRT1487024	hsa-miR-571	CLIP-seq
MIRT2695075	hsa-miR-574-5p	CLIP-seq
MIRT1487026	hsa-miR-581	CLIP-seq
MIRT1487027	hsa-miR-592	CLIP-seq
MIRT1487028	hsa-miR-599	CLIP-seq
MIRT1487029	hsa-miR-613	CLIP-seq
MIRT2660613	hsa-miR-671-5p	CLIP-seq
MIRT2660614	hsa-miR-760	CLIP-seq
MIRT1487032	hsa-miR-924	CLIP-seq

Show/Hide all(13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0000139	Component	Golgi membrane	TAS
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25416956, 28514442, 32296183
GO:0005575	Component	Cellular_component	ND
GO:0005794	Component	Golgi apparatus	ISS
GO:0006886	Process	Intracellular protein transport	IBA	21873635
GO:0006886	Process	Intracellular protein transport	NAS	10404641
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0010008	Component	Endosome membrane	TAS
GO:0016021	Component	Integral component of membrane	ISS
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635

MIM	HGNC	e!Ensembl
610035	14579	ENSG00000136631

Protein

UniProt ID

Q9NRW7

Protein name

Vacuolar protein sorting-associated protein 45 (h-VPS45) (hlVps45)

Protein function

May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00995	Sec1	23 → 546	Sec1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liv

Sequence

MNVVFAVKQYISKMIEDSGPGMKVLLMDKETTGIVSMVYTQSEILQKEVYLFERIDSQNR
EIMKHLKAICFLRPTKENVDYIIQELRRPKYTIYFIYFSNVISKSDVKSLAEADEQEVVA
EVQEFYGDYIAVNPHLFSLNILGCCQGRNWDPAQLSRTTQGLTALLLSLKKCPMIRYQLS
SEAAKRLAECVKQVITKEYELFEFRRTEVPPLLLILDRCDDAITPLLNQWTYQAMVHELL
GINNNRIDLSRVPGISKDLREVVLSAENDEFYANNMYLNFAEIGSNIKNLMEDFQKKKPK
EQQKLESIADMKAFVENYPQFKKMSGTVSKHVTVVGELSRLVSERNLLEVSEVEQELACQ
NDHSSALQNIKRLLQNPKVTEFDAARLVMLYALHYERHSSNSLPGLMMDLRNKGVSEKYR
KLVSAVVEYGGKRVRGSDLFSPKDAVAITKQFLKGLKGVENVYTQHQPFLHETLDHLIKG
RLKENLYPYLGPSTLRDRPQDIIVFVIGGATYEEALTVYNLNRTTPGVRIVLGGTTVHNT
KSFLEEVLASGLHSRSKESSQVTSRSASRR

Sequence length

570

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Intra-Golgi traffic Factors involved in megakaryocyte development and platelet production

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Congenital neutropenia	Congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475 View all (30 more)	23599270
Congenital neutropenia, myelofibrosis, nephromegaly syndrome	Congenital neutropenia, myelofibrosis, nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome	rs879255237, rs782269909	23599270
Myelofibrosis	Familial myelofibrosis	rs77375493, rs587776885, rs1555760738, rs146249964, rs755257605	23599270
Neutropenia	Neutropenia, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE	rs879253882	23738510, 23599270
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	30626913

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Mental depression	Major Depressive Disorder	30626913	ClinVar
Congenital Neutropenia, Myelofibrosis, Nephromegaly Syndrome	congenital neutropenia-myelofibrosis-nephromegaly syndrome		GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Blood Platelet Disorders	Associate	23599270
Bone Marrow Failure Disorders	Associate	23599270
Carcinoma Hepatocellular	Associate	31811111
Carcinoma Non Small Cell Lung	Associate	32590190
Cardiovascular Diseases	Associate	34732130
Fibrosis	Associate	31811111
Neutropenia	Associate	23599270
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	23599270
Ovarian Neoplasms	Associate	31578411
Primary Myelofibrosis	Associate	23599270
Thrombasthenia	Associate	23599270

VPS45 (vacuolar protein sorting 45 homolog)