SCLT1 (sodium channel and clathrin linker 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132320
Gene name Gene Name - the full gene name approved by the HGNC.
Sodium channel and clathrin linker 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SCLT1
Synonyms (NCBI Gene) Gene synonyms aliases
CAP-1A, CAP1A
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q28.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005813 Component Centrosome IDA 21399614
GO:0005814 Component Centriole IDA 23348840
GO:0005829 Component Cytosol TAS
GO:0008022 Function Protein C-terminus binding IEA
GO:0017080 Function Sodium channel regulator activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611399 26406 ENSG00000151466
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Orofaciodigital syndrome Orofaciodigital Syndromes rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845
View all (42 more)		 24285566
Renal dysplasia and retinal aplasia Renal dysplasia and retinal aplasia (disorder) rs121918244, rs387906980, rs753627675, rs866982675, rs1573920009, rs1576559094 30425282, 28005958, 24285566
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 24621683 ClinVar
Senior-Loken Syndrome Senior-Loken syndrome GenCC
Retinitis Pigmentosa retinitis pigmentosa GenCC
Show/Hide Text Mining Associations (15)
Associations from Text Mining
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