PRRT1 (proline rich transmembrane protein 1)

Gene

• Entrez ID: 80863
• Gene name: Proline rich transmembrane protein 1
• Gene symbol: PRRT1
• Synonyms (NCBI Gene): C6orf31, DSPD1, IFITMD7, NG5, SynDIG4
• Chromosome: 6
• Chromosome location: 6p21.32

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0006468	Process	Protein phosphorylation	ISS
GO:0007611	Process	Learning or memory	IEA
GO:0016020	Component	Membrane	IBA	21873635
GO:0030545	Function	Receptor regulator activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0034394	Process	Protein localization to cell surface	ISS
GO:0050808	Process	Synapse organization	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060292	Process	Long-term synaptic depression	ISS
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:2000311	Process	Regulation of AMPA receptor activity	ISS

Other IDs

• MIM: 618297
• HGNC: 13943
• e!Ensembl: ENSG00000204314

Protein

• UniProt ID: 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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	17632545
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	21156761

Unknown
Disease term	Disease name	Evidence	References	Source
Systemic lupus erythematosus	Systemic lupus erythematosus			GWAS
Diabetes	Diabetes			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	39773540
Breast Neoplasms	Associate	25774687
Cardiomyopathy Hypertrophic	Associate	36499607
Mevalonate Kinase Deficiency	Associate	29268706
Ovarian Diseases	Associate	19849863
Seizures	Associate	27251580