Gene Gene information from NCBI Gene database.
Entrez ID 4811
Gene name Nidogen 1
Gene symbol NID1
Synonyms (NCBI Gene)
NID
Chromosome 1
Chromosome location 1q42.3
Summary 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
SNPs SNP information provided by dbSNP.
2
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
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT005669 hsa-miR-29b-3p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20971881
MIRT005669 hsa-miR-29b-3p Luciferase reporter assayMicroarrayNorthern blotqRT-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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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:0005518 Function Collagen binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131390 7821 ENSG00000116962
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells   Degradation of the extracellular matrix
Laminin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Focal epilepsy Likely pathogenic rs730882225 RCV000162140
Hemiparesis Likely pathogenic rs730882225 RCV000162140
Hydrocephalus Likely pathogenic rs730882225 RCV000162140
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs143743775 RCV005906358
Cholangiocarcinoma Benign rs143743775 RCV005906365
Colon adenocarcinoma Benign rs143743775 RCV005906355
Familial cancer of breast Benign rs4660137 RCV005918230
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 34252262
Amyotrophic Lateral Sclerosis Associate 36768220
Breast Neoplasms Associate 28827399, 33500458
Breast Neoplasms Inhibit 30947697
Burns Associate 25844669
Carcinogenesis Associate 33890711
Colorectal Neoplasms Associate 17328794, 30831320, 33890711
Cytomegalovirus Infections Inhibit 37125912
Dandy Walker Syndrome Associate 23674478
Diabetes Mellitus Associate 12873452, 24255036, 25446319