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NID1 (nidogen 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4811
Gene nameGene Name - the full gene name approved by the HGNC.
Nidogen 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NID1
SynonymsGene synonyms aliases
NID
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Ju
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs730882225 C>T Likely-pathogenic Splice donor variant
rs1064793217 A>T Likely-pathogenic Initiator codon variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005669 hsa-miR-29b-3p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 20971881
MIRT005669 hsa-miR-29b-3p Luciferase reporter assay, Microarray, Northern blot, qRT-PCR 20971881
MIRT002921 hsa-miR-124-3p Microarray 18668037
MIRT045142 hsa-miR-186-5p CLASH 23622248
MIRT044313 hsa-miR-106b-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 27068509, 27559042, 28675934
GO:0005509 Function Calcium ion binding IEA
GO:0005518 Function Collagen binding IDA 22952693
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P14543
Protein name Nidogen-1 (NID-1) (Entactin)
Protein function Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06119 NIDO
176 267
Nidogen-like
Family
PF07474 G2F
429 622
G2F domain
Domain
PF07645 EGF_CA
710 750
Calcium-binding EGF domain
Domain
PF12662 cEGF
784 805
Complement Clr-like EGF-like
Domain
PF12947 EGF_3
806 839
EGF domain
Domain
PF00086 Thyroglobulin_1
849 919
Thyroglobulin type-1 repeat
Domain
PF00058 Ldl_recept_b
990 1030
Low-density lipoprotein receptor repeat class B
Repeat
PF00058 Ldl_recept_b
1033 1072
Low-density lipoprotein receptor repeat class B
Repeat
PF00058 Ldl_recept_b
1076 1118
Low-density lipoprotein receptor repeat class B
Repeat
PF14670 FXa_inhibition
1212 1242
Domain
Sequence
MLASSSRIRAAWTRALLLPLLLAGPVGCLSRQELFPFGPGQGDLELEDGDDFVSPALELS
GALRFYDRSDIDAVYVTTNGIIATSEPPAKESHPGLFPPTFGAVAPFLADLDTTDGLGKV
YYREDLSPSITQRAAECVHRGFPEISFQPSSAVVVTWESVAPYQGPSRDPDQKGKRNTFQ
AVLASSDSSSYAIFLYPEDGLQFHTTFSKKENNQVPAVVAFSQGSVGFLWKSNGAYNIFA
NDRESVENLAKSSNSGQQGVWVFEIGS
PATTNGVVPADVILGTEDGAEYDDEDEDYDLAT
TRLGLEDVGTTPFSYKALRRGGADTYSVPSVLSPRRAATERPLGPPTERTRSFQLAVETF
HQQHPQVIDVDEVEETGVVFSYNTDSRQTCANNRHQCSVHAECRDYATGFCCSCVAGYTG
NGRQCVAEGSPQRVNGKVKGRIFVGSSQVPIVFENTDLHSYVVMNHGRSYTAISTIPETV
GYSLLPLAPVGGIIGWMFAVEQDGFKNGFSITGGEFTRQAEVTFVGHPGNLVIKQRFSGI
DEHGHLTIDTELEGRVPQIPFGSSVHIEPYTELYHYSTSVITSSSTREYTVTEPERDGAS
PSRIYTYQWRQTITFQECVHDD
SRPALPSTQQLSVDSVFVLYNQEEKILRYALSNSIGPV
REGSPDALQNPCYIGTHGCDTNAACRPGPRTQFTCECSIGFRGDGRTCYDIDECSEQPSV
CGSHTICNNHPGTFRCECVEGYQFSDEGTC
VAVVDQRPINYCETGLHNCDIPQRAQCIYT
GGSSYTCSCLPGFSGDGQACQDVDECQPSRCHPDAFCYNTPGSFTCQCKPGYQGDGFRCV
PGEVEKTRCQHEREHILGAAGATDPQRPIPPGLFVPECDAHGHYAPTQCHGSTGYCWCVD
RDGREVEGTRTRPGMTPPC
LSTVAPPIHQGPAVPTAVIPLPPGTHLLFAQTGKIERLPLE
GNTMRKTEAKAFLHVPAKVIIGLAFDCVDKMVYWTDITEPSIGRASLHGGEPTTIIRQDL
GSPEGIAVDH
LGRNIFWTDSNLDRIEVAKLDGTQRRVLFETDLVNPRGIVTDSVRGNLYW
TDWNRDNPKIETSYMDGTNRRILVQDDLGLPNGLTFDA
FSSQLCWVDAGTNRAECLNPSQ
PSRRKALEGLQYPFAVTSYGKNLYFTDWKMNSVVALDLAISKETDAFQPHKQTRLYGITT
ALSQCPQGHNYCSVNNGGCTHLCLATPGSRTCRCPDNTLGVDCIEQK
Sequence length 1247
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.
 
KEGG
 
Reactome
  Cytoskeleton in muscle cells   Degradation of the extracellular matrix
Laminin interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Epilepsy Epilepsies, Partial rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Tetralogy of fallot Tetralogy of Fallot rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288
Unknown
Disease name Disease term dbSNP ID References
Congenital cerebral hernia Congenital cerebral hernia
Dandy-walker syndrome Dandy-Walker Syndrome 30773799
Frontal bossing Frontal bossing
Nevus Nevus 21478494

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