DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)

Gene

• Entrez ID: 8813
• Gene name: Dolichyl-phosphate mannosyltransferase subunit 1, catalytic
• Gene symbol: DPM1
• Synonyms: CDGIE, MPDS
• Chromosome: 20
• Chromosome location: 20q13.13
• Summary: Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mann

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908583	G>A,C,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, non coding transcript variant, missense variant
rs587777115	A>T	Pathogenic	Intron variant
rs1272097668	ATGTAGTTTCCTG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029861	hsa-miR-26b-5p	Microarray	19088304
MIRT042406	hsa-miR-18b-5p	CLASH	23622248
MIRT1979536	hsa-miR-203	CLIP-seq
MIRT1979537	hsa-miR-300	CLIP-seq
MIRT1979538	hsa-miR-3646	CLIP-seq
MIRT1979539	hsa-miR-381	CLIP-seq
MIRT1979540	hsa-miR-4282	CLIP-seq
MIRT1979541	hsa-miR-4666-3p	CLIP-seq
MIRT1979542	hsa-miR-4717-5p	CLIP-seq
MIRT1979543	hsa-miR-4789-5p	CLIP-seq
MIRT1979544	hsa-miR-490-3p	CLIP-seq
MIRT1979545	hsa-miR-649	CLIP-seq
MIRT1979546	hsa-miR-891b	CLIP-seq
MIRT1979547	hsa-miR-944	CLIP-seq
MIRT2214629	hsa-miR-1178	CLIP-seq
MIRT2214630	hsa-miR-146a	CLIP-seq
MIRT2214631	hsa-miR-146b-5p	CLIP-seq
MIRT1979536	hsa-miR-203	CLIP-seq
MIRT2214632	hsa-miR-3120-3p	CLIP-seq
MIRT1979538	hsa-miR-3646	CLIP-seq
MIRT2214633	hsa-miR-3647-3p	CLIP-seq
MIRT2214634	hsa-miR-3662	CLIP-seq
MIRT2214635	hsa-miR-4461	CLIP-seq
MIRT2214636	hsa-miR-4698	CLIP-seq
MIRT1979544	hsa-miR-490-3p	CLIP-seq
MIRT2214637	hsa-miR-545	CLIP-seq
MIRT2214638	hsa-miR-548ad	CLIP-seq
MIRT2214639	hsa-miR-548p	CLIP-seq
MIRT2214640	hsa-miR-570	CLIP-seq
MIRT2214641	hsa-miR-580	CLIP-seq
MIRT2214642	hsa-miR-589	CLIP-seq
MIRT1979545	hsa-miR-649	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004169	Function	Dolichyl-phosphate-mannose-protein mannosyltransferase activity	IDA	9535917
GO:0004582	Function	Dolichyl-phosphate beta-D-mannosyltransferase activity	IBA	21873635
GO:0004582	Function	Dolichyl-phosphate beta-D-mannosyltransferase activity	IDA	9535917, 10835346
GO:0005515	Function	Protein binding	IPI	10835346, 16280320, 23856421, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005783	Component	Endoplasmic reticulum	IDA	9724629
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	9724629
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IDA	9535917, 9724629, 10835346
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	9535917
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0019348	Process	Dolichol metabolic process	IBA	21873635
GO:0019348	Process	Dolichol metabolic process	IDA	9535917, 9724629
GO:0033185	Component	Dolichol-phosphate-mannose synthase complex	IDA	9724629, 10835346
GO:0035268	Process	Protein mannosylation	IDA	9535917
GO:0035269	Process	Protein O-linked mannosylation	IBA	21873635
GO:0035269	Process	Protein O-linked mannosylation	IDA	9535917

Other IDs

• MIM: 603503
• HGNC: 3005
• e!Ensembl: ENSG00000000419

Protein

• UniProt ID: O60762
• Protein name: Dolichol-phosphate mannosyltransferase subunit 1 (EC 2.4.1.83) (Dolichol-phosphate mannose synthase subunit 1) (DPM synthase subunit 1) (Dolichyl-phosphate beta-D-mannosyltransferase subunit 1) (Mannose-P-dolichol synthase subunit 1) (MPD synthase subunit
• Protein function: Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00535	Glycos_transf_2	28 → 199	Glycosyl transferase family 2	Family

• Sequence:

  MASLEVSRSPRRSRRELEVRSPRQNKYSVLLPTYNERENLPLIVWLLVKSFSESGINYEI
  IIIDDGSPDGTRDVAEQLEKIYGSDRILLRPREKKLGLGTAYIHGMKHATGNYIIIMDAD
  LSHHPKFIPEFIRKQKEGNFDIVSGTRYKGNGGVYGWDLKRKIISRGANFLTQILLRPGA
  SDLTGSFRLYRKEVLEKLIEKCVSKGYVFQMEMIVRARQLNYTIGEVPISFVDRVYGESK
  LGGNEIVSFLKGLLTLFATT

• Sequence length: 260

Pathways

KEGG:

N-Glycan biosynthesis
Metabolic pathways

Reactome:

Synthesis of dolichyl-phosphate mannose
Defective DPM1 causes DPM1-CDG (CDG-1e)
Defective DPM3 causes DPM3-CDG (CDG-1o)
Defective DPM2 causes DPM2-CDG (CDG-1u)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Antithrombin deficiency	Antithrombin III Deficiency	rs121909546, rs121909547, rs121909548, rs121909549, rs121909550, rs121909551, rs2227624, rs121909552, rs121909554, rs121909555, rs121909557, rs121909558, rs28929469, rs1572088837, rs121909560, rs121909561, rs121909562, rs121909563, rs121909564, rs121909567, rs2102789885, rs2102784614, rs2102778876, rs121909569, rs387906575, rs121909570, rs121909571, rs121909572, rs121909573, rs2102773181, rs2102772927, rs483352856, rs483352854, rs786204063, rs863224495, rs542881762, rs758087836, rs1487411568, rs1460568494, rs1572088775, rs1572088823, rs1572088853, rs1572090173, rs1572091783, rs1572091831, rs1572092076, rs1572092103, rs1572086894, rs1572088865, rs765445413, rs1572090305, rs1572090368, rs1572088348, rs1572090079, rs1449772752, rs1657909645
Congenital disorder of glycosylation	Congenital Disorders of Glycosylation, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie, Congenital disorder of glycosylation type 1q, DPM1-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	10642597, 10642602, 15669674, 27604308, 23856421, 26729507, 10642597
Hemangioma	Hemangioma	rs119475040, rs121917766
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872

Unknown
Disease name	Disease term	dbSNP ID	References
Central visual impairment	Central visual impairment
Congenital camptodactyly	Congenital Camptodactyly
Micrognathism	Micrognathism
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Protein c deficiency	Protein C Deficiency
Retinal diseases	Retinal Diseases
Strabismus	Strabismus