RAP1A (RAP1A, member of RAS oncogene family)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5906 |
Gene nameGene Name - the full gene name approved by the HGNC.
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RAP1A, member of RAS oncogene family |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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RAP1A |
SynonymsGene synonyms aliases
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C21KG, G-22K, KREV-1, KREV1, RAP1, SMGP21 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide ex |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
TWIST1 |
Repression |
19051271 |
TWIST2 |
Repression |
19051271 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P62834 |
Protein name |
Ras-related protein Rap-1A (EC 3.6.5.2) (C21KG) (G-22K) (GTP-binding protein smg p21A) (Ras-related protein Krev-1) |
Protein function |
Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes (PubMed:17916086). Plays a role |
PDB |
1C1Y
,
1GUA
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3KUC
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4KVG
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00071 |
Ras |
5 → 167 |
Ras family |
Domain |
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Sequence |
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Sequence length |
184 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital diaphragmatic hernia |
Congenital diaphragmatic hernia |
rs121908602, rs121908604, rs864309713, rs780263938, rs756636036, rs775394591 |
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Congenital ocular coloboma |
Congenital ocular coloboma (disorder) |
rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799 |
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Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Hearing loss |
Conductive hearing loss, Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 |
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Hydrocephalus |
Hydrocephalus |
rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546 |
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Kabuki syndrome |
Kabuki make-up syndrome |
rs267607237, rs267607240, rs267607239, rs398122929, rs397514628, rs398122829, rs398122969, rs398123704, rs398123708, rs398123715, rs398123721, rs398123729, rs398123744, rs398123751, rs398123753, rs367537992, rs587783703, rs587783702, rs587783700, rs587783699, rs587783698, rs587783697, rs587783696, rs587783695, rs587783693, rs587783692, rs587783691, rs587783690, rs587783688, rs587783687, rs587783686, rs587783685, rs587783683, rs587783682, rs587783681, rs587783729, rs587783728, rs587783727, rs587783725, rs556669370, rs587783723, rs587783719, rs587783715, rs587783713, rs587783712, rs587783711, rs587783705, rs587783689, rs587783714, rs587783708, rs727503979, rs727503987, rs727503983, rs793888515, rs793888514, rs793888513, rs793888511, rs793888512, rs35584294, rs793888509, rs793888510, rs786205676, rs786205478, rs756471180, rs794727420, rs794727549, rs794727688, rs797045001, rs797045659, rs797045658, rs797045672, rs797045671, rs797045669, rs797045668, rs797045667, rs797045663, rs797045662, rs797045660, rs797045670, rs797045661, rs797045642, rs797045643, rs797045644, rs863224890, rs863224886, rs886039399, rs886039398, rs886040960, rs886041106, rs886041398, rs886041404, rs886041405, rs886043414, rs886043497, rs886043506, rs1057516039, rs1057517992, rs1057518571, rs1057518680, rs1057519067, rs1057519422, rs1057519595, rs1060499665, rs1060499669, rs1060499724, rs1060499552, rs1555190375, rs1064794026, rs1064796275, rs1064796125, rs1064793351, rs1555044700, rs1555185301, rs1555186232, rs1555187577, rs1555188129, rs1555188155, rs1555188469, rs1135401809, rs940178682, rs1555188653, rs1555189207, rs1555194045, rs1555195441, rs1555198491, rs1555198886, rs1555191598, rs1555196415, rs1555186079, rs1555186436, rs1555187105, rs188017299, rs1555191521, rs1555194510, rs1555197682, rs1555198201, rs1555187758, rs1555190324, rs1555192996, rs1555185299, rs1555192667, rs1555195442, rs1555185217, rs1555188501, rs1556328781, rs1556341546, rs886040420, rs1555190635, rs1555187452, rs35493001, rs1555187956, rs1333678798, rs1555186053, rs1251778848, rs1556346208, rs1555188379, rs1452715535, rs1555187117, rs1556357314, rs1555184777, rs1555186066, rs1350605713, rs1555192751, rs1555188518, rs1555195432, rs1422752351, rs1555188704, rs767415197, rs1556330304, rs1556350571, rs1555184624, rs1555184635, rs1555184782, rs1555184893, rs1555185610, rs398123728, rs1555185699, rs1555185817, rs1555185969, rs1555185978, rs1555186044, rs1555186087, rs1555186257, rs1555186527, rs1555186627, rs1355372507, rs1555187461, rs1555187485, rs1555187575, rs1555187741, rs1555187869, rs1555188026, rs1555188080, rs1555188430, rs1555188520, rs1555188537, rs1555188561, rs1555188670, rs1555188687, rs1555189038, rs763440821, rs1555189421, rs1555189450, rs1210590639, rs1555190391, rs1555190550, rs1555190806, rs1555190907, rs1555191147, rs1555191177, rs1555191203, rs1555191324, rs1555191665, rs1555191740, rs1555192051, rs1555192113, rs1555192210, rs1555192218, rs1555192437, rs1555192451, rs1555192457, rs1555192531, rs1555193738, rs1555193755, rs1555193912, rs1555194236, rs1555194303, rs1290729871, rs1555194822, rs1555195118, rs1240601136, rs764942, rs1555195573, rs1555196016, rs1555196084, rs1555196459, rs1555196590, rs1555196742, rs370492566, rs1555196984, rs1555197101, rs770315135, rs1555197738, rs1555198318, rs1555198590, rs1555198640, rs1555198921, rs1555957146, rs1555186619, rs1556311265, rs1556357274, rs1565756561, rs1565756106, rs781145102, rs1565771606, rs1565781216, rs1364500207, rs1565826250, rs1565780936, rs767737749, rs1565776616, rs1565789522, rs1565802369, rs1565812092, rs1565813691, rs1565817210, rs1569537333, rs1450363794, rs1565809463, rs1565773113, rs1565763192, rs1565807707, rs1565822457, rs1569542167, rs1565756115, rs755440519, rs1565820584, rs1565753611, rs1057518149, rs1565779530, rs1592159322, rs1592129081, rs1592161182, rs1592153986, rs1602868720, rs1592133086, rs1592123162, rs1592106062, rs1592106640, rs1592112854, rs1592116886, rs1592117125, rs1592118953, rs1592118976, rs1592123024, rs1592129138, rs1592131106, rs1565790749, rs1592133696, rs1592135715, rs1592136317, rs1592136884, rs1592137369, rs1592137413, rs1592138822, rs1592142239, rs1592145939, rs1592146526, rs1592151169, rs1592156633, rs1592157335, rs1592157505, rs1592160494, rs1602985802, rs1318649487, rs867333942, rs1592110749, rs1057520722, rs1602799769, rs1602928572, rs1603068073, rs1592105909, rs1592106879, rs1592139221, rs1592150075, rs912069418, rs1602928108, rs1592102369, rs1592130816, rs1592139573, rs1592142093, rs1592106220, rs1592122640, rs1592132971, rs1592136242, rs1592162768, rs398123725, rs1592152233, rs1943461045, rs1592159924, rs1592162790, rs1942357670, rs1942587772, rs1942608745, rs1942615152, rs1942616266, rs1943016958, rs1943319609, rs1943527583, rs1157281284, rs1938072820, rs1938074857, rs1938252263, rs2044750709 |
26280580 |
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 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
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Osteoporosis |
Osteoporosis |
rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 |
20548944 |
Precocious puberty |
Precocious Puberty |
rs879255238, rs879255239, rs879255240, rs1264639964, rs1566764505 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
31374203 |
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Abnormal dermatoglyphic pattern |
Abnormal dermatoglyphic pattern |
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Aortic coarctation |
Aortic coarctation |
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Cerebral cortical atrophy |
Cerebral cortical atrophy |
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Congenital hypoplasia of penis |
Congenital hypoplasia of penis |
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Dwarfism |
Dwarfism |
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Heart septal defects |
Heart Septal Defects |
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High palate |
Byzanthine arch palate |
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Hydronephrosis |
Hydronephrosis |
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Hypodontia |
Hypodontia |
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Hypospadias |
Hypospadias |
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Macrotia |
Macrotia |
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Microcornea |
Microcornea |
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Microdontia |
Microdontia (disorder) |
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Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Strabismus |
Strabismus |
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