SCLT1 (sodium channel and clathrin linker 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 132320
Gene name Sodium channel and clathrin linker 1
Gene symbol SCLT1
Synonyms (NCBI Gene)
CAP-1ACAP1A
Chromosome 4
Chromosome location 4q28.2
Summary This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT2097685 hsa-miR-3148 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005814 Component Centriole IBA
GO:0005814 Component Centriole IDA 23348840
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611399 26406 ENSG00000151466
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96NL6
Protein name Sodium channel and clathrin linker 1 (Sodium channel-associated protein 1)
Protein function Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity).
Family and domains
Sequence 
MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLV
TEYDKHLGELNGQLKYYQKQVGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVG
TDIYADDETVRNLQEQLQLANQEKTQAVELWQTVSQELDRLHKLYQEHMTEAQIHVFESQ
KQKDQLFDFQQLTKQLHVTNENMEVTNQQFLKTVTEQSVIIEQLRKKLRQAKLELRVAVA
KVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQLQSSIKQLEIRLCVTIQEANQ
LRTENTHLEKQTRELQAKCNELENERYEAIVRARNSMQLLEEANLQKSQALLEEKQKEED
IEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEELSALQMECAEKQGQIERVIK
EKKAVEEELEKIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLETD
SSEEISRYQEMIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKK
AKVKISTMEHEFSIKERGFEVQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTE
SAEIRINNLKSELSRQKLHTQELLSQLEMANEKVAENEKLILEHQEKANRLQRRLSQAEE
RAASASQQLSVITVQRRKAASLMNLENI
Sequence length 688
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
75
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Likely pathogenic rs779357435 RCV005934648
SCLT1-related disorder Pathogenic rs1743299340 RCV005253947
Uterine corpus endometrial carcinoma Likely pathogenic rs770099403 RCV005928558
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs13118479 RCV005909664
Esophageal atresia/tracheoesophageal fistula Conflicting classifications of pathogenicity; Uncertain significance rs760824351, rs747582277 RCV002279776
RCV002279777
Familial pancreatic carcinoma Benign rs13118479 RCV005909660
Hepatocellular carcinoma Benign; Likely benign rs13118479, rs1579661419, rs115924008 RCV005909658
RCV005921170
RCV005904473
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bardet Biedl Syndrome Associate 32055034, 32253632, 33132306, 37246745
Breast Neoplasms Associate 26474971
Carcinoma Squamous Cell Associate 37185598
Ciliopathies Associate 24882706, 32055034, 37246745
Fatty Liver Associate 33132306
Hypogonadism Associate 32253632
Kidney Diseases Associate 32253632
Neoplasm Metastasis Associate 37185598
Nephronophthisis familial juvenile Associate 24882706
Orofacial Cleft 1 Associate 40147726