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SCLT1 (sodium channel and clathrin linker 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
132320
Gene nameGene Name - the full gene name approved by the HGNC.
Sodium channel and clathrin linker 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SCLT1
SynonymsGene synonyms aliases
CAP-1A, CAP1A
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q28.2
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 24621683
Orofaciodigital syndrome Orofaciodigital Syndromes rs122460150, rs312262822, rs312262833, rs312262886, rs312262890, rs2139738553, rs387907273, rs793888507, rs768525869, rs312262863, rs312262868, rs312262887, rs312262821, rs312262834, rs312262845, rs312262858, rs587777067, rs587777653, rs587777654, rs149366137, rs606231258, rs606231259, rs606231260, rs375009168, rs606231261, rs730882217, rs764091969, rs752171066, rs147416429, rs749523755, rs863225159, rs141153181, rs777686211, rs869312898, rs149170427, rs886039813, rs1060500123, rs1555526172, rs1553741312, rs1555901146, rs1555900675, rs1555900734, rs1555901137, rs1555901169, rs1555904480, rs1569145145, rs1560127636, rs1174615027, rs1565237232, rs1575420160, rs1571603072, rs1602904530, rs773114666, rs1589623689, rs1602826217, rs1602942625, rs766699868 24285566
Renal dysplasia and retinal aplasia Renal dysplasia and retinal aplasia (disorder) rs121918244, rs387906980, rs753627675, rs866982675, rs1573920009, rs1576559094 30425282, 28005958, 24285566

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