Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8825
Gene name Gene Name - the full gene name approved by the HGNC.
Lin-7 cell polarity scaffold A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIN7A
Synonyms (NCBI Gene) Gene synonyms aliases
LIN-7A, LIN7, MALS-1, MALS1, TIP-33, VELI1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q21.31
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017177 hsa-miR-335-5p Microarray 18185580
MIRT022330 hsa-miR-124-3p Microarray 18668037
MIRT437380 hsa-miR-199a-5p Luciferase reporter assay 23201090
MIRT437380 hsa-miR-199a-5p Luciferase reporter assay 23201090
MIRT437380 hsa-miR-199a-5p Luciferase reporter assay 23201090
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11311936, 16688213, 16855024, 24366813, 25416956, 31515488, 32296183, 32707033, 33961781
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005911 Component Cell-cell junction IBA
GO:0005923 Component Bicellular tight junction IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603380 17787 ENSG00000111052
Protein
UniProt ID O14910
Protein name Protein lin-7 homolog A (Lin-7A) (hLin-7) (Mammalian lin-seven protein 1) (MALS-1) (Tax interaction protein 33) (TIP-33) (Vertebrate lin-7 homolog 1) (Veli-1)
Protein function Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02828 L27 29 82 L27 domain Domain
PF00595 PDZ 108 187 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, testis, kidney, placenta and liver. {ECO:0000269|PubMed:11311936}.
Sequence
MLKPSVTSAPTADMATLTVVQPLTLDRDVARAIELLEKLQESGEVPVHKLQSLKKVLQSE
FCTAIREVYQYMHETITVNGCP
EFRARATAKATVAAFAASEGHSHPRVVELPKTDEGLGF
NVMGGKEQNSPIYISRIIPGGVAERHGGLKRGDQLLSVNGVSVEGEHHEKAVELLKAAKD
SVKLVVR
YTPKVLEEMEARFEKLRTARRRQQQQLLIQQQQQQQQQQTQQNHMS
Sequence length 233
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Dopamine Neurotransmitter Release Cycle
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 26887652
Hereditary Breast and Ovarian Cancer Syndrome Associate 26887652
Leukemia Myeloid Acute Associate 36864492
Myocardial Infarction Associate 20227257
Neoplasm Invasiveness Associate 26887652