LINS1 (lines homolog 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55180
Gene name Gene Name - the full gene name approved by the HGNC.
Lines homolog 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LINS1
Synonyms (NCBI Gene) Gene synonyms aliases
LINS, MRT27, WINS1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.3
Summary Summary of gene provided in NCBI Entrez Gene.
The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered wit
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs144513217 A>G Likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, synonymous variant
rs149644940 A>C Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs587777225 CATG>- Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs587777226 CTTTC>- Pathogenic Splice donor variant, coding sequence variant, non coding transcript variant
rs764442764 A>- Likely-pathogenic 5 prime UTR variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(143)
miRTarBase ID miRNA Experiments Reference
MIRT607248 hsa-miR-345-3p HITS-CLIP 23824327
MIRT607247 hsa-miR-4732-3p HITS-CLIP 23824327
MIRT607246 hsa-miR-125a-5p HITS-CLIP 23824327
MIRT607245 hsa-miR-125b-5p HITS-CLIP 23824327
MIRT607244 hsa-miR-4319 HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0050890 Process Cognition IMP 23773660
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610350 30922 ENSG00000140471
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8NG48
Protein name Protein Lines homolog 1 (Wnt-signaling molecule Lines homolog 1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14694 LINES_N 193 → 542 Lines N-terminus Family
PF14695 LINES_C 712 → 748 Lines C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adult testis, prostate, prostate, spleen, thymus, skeletal muscle, fetal kidney and brain. {ECO:0000269|PubMed:12119551}.
Sequence 
MKVFCEVLEELYKKVLLGATLENDSHDYIFYLNPAVSDQDCSTATSLEWANTCGIQGRHQ
PISVGVAPIAVAPVCLKTNSQMSGSREVMLLQLTVIKVMTTRILSVKTEFHAKEQYRDVI
KILLESAKVDSKLICMFQNSDKLLSHMAAQCLALLLYFQLREKITLSNSWIAFCQKNLSE
YSESNKAIYCLWTLTAIIKEIFKDSCSQKTEILKQFLTHFDTIFEVFYNSLFSQHFENCR
DTSKIVNILMCFLDLLELLIASRIHLKLHFTCQRILFLKPSCMLEVITWPIQAFVKRKVI
IFLKKCLLCKVGEDLCRGSVPALMPPDHHVAVDMLALANAVLQAVNSGLLKTLSVYEKHS
FFGGDEVQPECELITSPDHVILRAASLVIMKSLEIKFQNYSSASEVKVDLQRFMSELLTF
LKPHLQPSLQLHNPCKWLSRVFIEQDDDMLEAAKASLGIYLTLTRGCEATESLTQGKEMW
DHHTHENGYNPHCIFLFFLKNIGFDSTVLLDFLISSETCFLEYFVRYLKLLQKDWDNFFT
ICNNFDATESKYDISICGCVPSLVQDQSSNQTIPHRLTAPHSHRDVCARHSWASDAPSEP
LKAVMSKGAHTMCASSLSSPRASQSLVDYDSSDDSDVESTEQCLANSKQTSLHQQATKEI
QDAAGTSRDKKEFSLEPPSRPLVLKEFDTAFSFDCEVAPNDVVSEVGIFYRIVKCFQELQ
DAICRLQKKNLFPYNPTALLKLLKYIEVISNKTMNTL
Sequence length 757
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation Intellectual disability, autosomal recessive 27, intellectual disability rs587777225, rs587777226, rs149644940, rs1057519019, rs1596891223 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Intellectual Disability Associate 23773660
Microcephaly Associate 23773660