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	80863
Gene name	Proline rich transmembrane protein 1
Gene symbol	PRRT1
Synonyms (NCBI Gene)	C6orf31DSPD1IFITMD7NG5SynDIG4
Chromosome	6
Chromosome location	6p21.32

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments
MIRT1268180	hsa-miR-1250	CLIP-seq
MIRT1268181	hsa-miR-1253	CLIP-seq
MIRT1268182	hsa-miR-1293	CLIP-seq
MIRT1268183	hsa-miR-1908	CLIP-seq
MIRT1268184	hsa-miR-2682	CLIP-seq
MIRT1268185	hsa-miR-2909	CLIP-seq
MIRT1268186	hsa-miR-3125	CLIP-seq
MIRT1268187	hsa-miR-3126-5p	CLIP-seq
MIRT1268188	hsa-miR-3162-5p	CLIP-seq
MIRT1268189	hsa-miR-3180	CLIP-seq
MIRT1268190	hsa-miR-3180-3p	CLIP-seq
MIRT1268191	hsa-miR-3196	CLIP-seq
MIRT1268192	hsa-miR-3613-3p	CLIP-seq
MIRT1268193	hsa-miR-3661	CLIP-seq
MIRT1268194	hsa-miR-3916	CLIP-seq
MIRT1268195	hsa-miR-3976	CLIP-seq
MIRT1268196	hsa-miR-4254	CLIP-seq
MIRT1268197	hsa-miR-4292	CLIP-seq
MIRT1268198	hsa-miR-4308	CLIP-seq
MIRT1268199	hsa-miR-4434	CLIP-seq
MIRT1268200	hsa-miR-4443	CLIP-seq
MIRT1268201	hsa-miR-4455	CLIP-seq
MIRT1268202	hsa-miR-4483	CLIP-seq
MIRT1268203	hsa-miR-4487	CLIP-seq
MIRT1268204	hsa-miR-449c	CLIP-seq
MIRT1268205	hsa-miR-4516	CLIP-seq
MIRT1268206	hsa-miR-451b	CLIP-seq
MIRT1268207	hsa-miR-4695-5p	CLIP-seq
MIRT1268208	hsa-miR-4713-3p	CLIP-seq
MIRT1268209	hsa-miR-4731-5p	CLIP-seq
MIRT1268210	hsa-miR-4743	CLIP-seq
MIRT1268211	hsa-miR-4746-3p	CLIP-seq
MIRT1268212	hsa-miR-4763-5p	CLIP-seq
MIRT1268213	hsa-miR-4779	CLIP-seq
MIRT1268214	hsa-miR-518a-5p	CLIP-seq
MIRT1268215	hsa-miR-527	CLIP-seq
MIRT1268216	hsa-miR-596	CLIP-seq
MIRT1268217	hsa-miR-619	CLIP-seq
MIRT1268218	hsa-miR-629	CLIP-seq
MIRT1268219	hsa-miR-631	CLIP-seq
MIRT1268220	hsa-miR-637	CLIP-seq
MIRT1268221	hsa-miR-663	CLIP-seq
MIRT1268222	hsa-miR-765	CLIP-seq
MIRT1268223	hsa-miR-877	CLIP-seq
MIRT1268224	hsa-miR-940	CLIP-seq
MIRT1922934	hsa-miR-377	CLIP-seq
MIRT1922934	hsa-miR-377	CLIP-seq
MIRT2078837	hsa-miR-603	CLIP-seq
MIRT1268217	hsa-miR-619	CLIP-seq
MIRT1922934	hsa-miR-377	CLIP-seq
MIRT1268183	hsa-miR-1908	CLIP-seq
MIRT1922934	hsa-miR-377	CLIP-seq
MIRT2439603	hsa-miR-383	CLIP-seq
MIRT2439604	hsa-miR-4706	CLIP-seq
MIRT2439605	hsa-miR-4749-5p	CLIP-seq
MIRT2439606	hsa-miR-4781-5p	CLIP-seq
MIRT1268221	hsa-miR-663	CLIP-seq
MIRT2439607	hsa-miR-744	CLIP-seq
MIRT2439608	hsa-miR-939	CLIP-seq
MIRT1268181	hsa-miR-1253	CLIP-seq
MIRT1268183	hsa-miR-1908	CLIP-seq
MIRT2602192	hsa-miR-3612	CLIP-seq
MIRT1268193	hsa-miR-3661	CLIP-seq
MIRT2439603	hsa-miR-383	CLIP-seq
MIRT1268196	hsa-miR-4254	CLIP-seq
MIRT1268199	hsa-miR-4434	CLIP-seq
MIRT1268200	hsa-miR-4443	CLIP-seq
MIRT1268205	hsa-miR-4516	CLIP-seq
MIRT2602193	hsa-miR-4652-5p	CLIP-seq
MIRT2439604	hsa-miR-4706	CLIP-seq
MIRT2439605	hsa-miR-4749-5p	CLIP-seq
MIRT1268212	hsa-miR-4763-5p	CLIP-seq
MIRT2439606	hsa-miR-4781-5p	CLIP-seq
MIRT1268216	hsa-miR-596	CLIP-seq
MIRT1268217	hsa-miR-619	CLIP-seq
MIRT1268219	hsa-miR-631	CLIP-seq
MIRT2602194	hsa-miR-650	CLIP-seq
MIRT1268221	hsa-miR-663	CLIP-seq
MIRT2439607	hsa-miR-744	CLIP-seq
MIRT2439608	hsa-miR-939	CLIP-seq
MIRT1268183	hsa-miR-1908	CLIP-seq
MIRT2688774	hsa-miR-3689a-3p	CLIP-seq
MIRT2688775	hsa-miR-3689c	CLIP-seq
MIRT1922934	hsa-miR-377	CLIP-seq
MIRT2439603	hsa-miR-383	CLIP-seq
MIRT2602193	hsa-miR-4652-5p	CLIP-seq
MIRT2439604	hsa-miR-4706	CLIP-seq
MIRT2439605	hsa-miR-4749-5p	CLIP-seq
MIRT2439606	hsa-miR-4781-5p	CLIP-seq
MIRT1268221	hsa-miR-663	CLIP-seq
MIRT2439607	hsa-miR-744	CLIP-seq
MIRT2439608	hsa-miR-939	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0006468	Process	Protein phosphorylation	ISS
GO:0007611	Process	Learning or memory	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030545	Function	Signaling receptor regulator activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0034394	Process	Protein localization to cell surface	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0045202	Component	Synapse	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0060292	Process	Long-term synaptic depression	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	ISS

MIM	HGNC	e!Ensembl
618297	13943	ENSG00000204314

Q99946

Protein name

Proline-rich transmembrane protein 1 (Dispanin subfamily D member 1) (DSPD1) (Synapse differentiation-induced protein 4) (SynDIG4)

Protein function

Required to maintain a pool of extrasynaptic AMPA-regulated glutamate receptors (AMPAR) which is necessary for synapse development and function. Regulates basal AMPAR function and synaptic transmission during development but is dispensable at ma

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04505	CD225	219 → 286	Interferon-induced transmembrane protein	Family

Sequence

MSSEKSGLPDSVPHTSPPPYNAPQPPAEPPAPPPQAAPSSHHHHHHHYHQSGTATLPRLG
AGGLASSAATAQRGPSSSATLPRPPHHAPPGPAAGAPPPGCATLPRMPPDPYLQETRFEG
PLPPPPPAAAAPPPPAPAQTAQAPGFVVPTHAGTVGTLPLGGYVAPGYPLQLQPCTAYVP
VYPVGTPYAGGTPGGTGVTSTLPPPPQGPGLALLEPRRPPHDYMPIAVLTTICCFWPTGI
IAIFKAVQVRTALARGDMVSAEIASREARNFSFISLAVGIAAMVLCTILTVVIIIAAQHH
ENYWDP

Sequence length

306

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 (1)

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.
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	39773540	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25774687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25774687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36499607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	25774687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25774687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25774687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mevalonate Kinase Deficiency	Mevalonate kinase deficiency	Pubtator	29268706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19849863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	21156761		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	27251580	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRRT1 (proline rich transmembrane protein 1)