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Aliases for SCLT1 Gene

Aliases for SCLT1 Gene

  • Sodium Channel And Clathrin Linker 1 2 3 5
  • Sodium Channel-Associated Protein 1 3 4
  • CAP-1A 3
  • CAP1A 3
  • SAP1 4

External Ids for SCLT1 Gene

Previous GeneCards Identifiers for SCLT1 Gene

  • GC04M130024
  • GC04M129805
  • GC04M125535

Summaries for SCLT1 Gene

Entrez Gene Summary for SCLT1 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 distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

GeneCards Summary for SCLT1 Gene

SCLT1 (Sodium Channel And Clathrin Linker 1) is a Protein Coding gene. Diseases associated with SCLT1 include hypertrophy of breast and orofaciodigital syndrome. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. GO annotations related to this gene include protein C-terminus binding and sodium channel regulator activity.

UniProtKB/Swiss-Prot for SCLT1 Gene

  • Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SCLT1 Gene

Genomics for SCLT1 Gene

Regulatory Elements for SCLT1 Gene

Promoters for SCLT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCLT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SCLT1 Gene

Chromosome:
4
Start:
128,864,921 bp from pter
End:
129,093,607 bp from pter
Size:
228,687 bases
Orientation:
Minus strand

Genomic View for SCLT1 Gene

Genes around SCLT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCLT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCLT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCLT1 Gene

Proteins for SCLT1 Gene

  • Protein details for SCLT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NL6-SCLT1_HUMAN
    Recommended name:
    Sodium channel and clathrin linker 1
    Protein Accession:
    Q96NL6
    Secondary Accessions:
    • A4QN04
    • Q0VAH2
    • Q6P2M4

    Protein attributes for SCLT1 Gene

    Size:
    688 amino acids
    Molecular mass:
    80910 Da
    Quaternary structure:
    • Interacts with SCN10A and clathrin. Identified in a complex containing SCN10A, clathrin and SCLT1 (By similarity).

    Alternative splice isoforms for SCLT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SCLT1 Gene

Proteomics data for SCLT1 Gene at MOPED

Post-translational modifications for SCLT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SCLT1 Gene

Domains & Families for SCLT1 Gene

Protein Domains for SCLT1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for SCLT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SCLT1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for SCLT1 Gene

Function for SCLT1 Gene

Molecular function for SCLT1 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that links SCN10A to clathrin. Regulates SCN10A channel activity, possibly by promoting channel internalization (By similarity).

Gene Ontology (GO) - Molecular Function for SCLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017080 sodium channel regulator activity IEA --
genes like me logo Genes that share ontologies with SCLT1: view
genes like me logo Genes that share phenotypes with SCLT1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SCLT1 Gene

Localization for SCLT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCLT1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCLT1 Gene COMPARTMENTS Subcellular localization image for SCLT1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SCLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071439 clathrin complex IEA --
GO:0097539 ciliary transition fiber IDA 23348840
genes like me logo Genes that share ontologies with SCLT1: view

Pathways & Interactions for SCLT1 Gene

genes like me logo Genes that share pathways with SCLT1: view

Gene Ontology (GO) - Biological Process for SCLT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045162 clustering of voltage-gated sodium channels IEA --
genes like me logo Genes that share ontologies with SCLT1: view

No data available for SIGNOR curated interactions for SCLT1 Gene

Drugs & Compounds for SCLT1 Gene

No Compound Related Data Available

Transcripts for SCLT1 Gene

Unigene Clusters for SCLT1 Gene

Sodium channel and clathrin linker 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SCLT1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: - -
SP3:
SP4:

Relevant External Links for SCLT1 Gene

GeneLoc Exon Structure for
SCLT1
ECgene alternative splicing isoforms for
SCLT1

Expression for SCLT1 Gene

mRNA expression in normal human tissues for SCLT1 Gene

mRNA differential expression in normal tissues according to GTEx for SCLT1 Gene

This gene is overexpressed in Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for SCLT1 Gene

This gene is overexpressed in Nasal epithelium (44.4) and Uterus (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SCLT1 Gene



SOURCE GeneReport for Unigene cluster for SCLT1 Gene Hs.654690

genes like me logo Genes that share expression patterns with SCLT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SCLT1 Gene

Orthologs for SCLT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SCLT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCLT1 35
  • 88.23 (n)
  • 82.53 (a)
SCLT1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCLT1 35
  • 89.97 (n)
  • 84.45 (a)
SCLT1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sclt1 35
  • 82.61 (n)
  • 75.44 (a)
Sclt1 16
Sclt1 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCLT1 35
  • 99.85 (n)
  • 99.85 (a)
SCLT1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sclt1 35
  • 83.24 (n)
  • 76.16 (a)
oppossum
(Monodelphis domestica)
Mammalia SCLT1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCLT1 36
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCLT1 35
  • 68.43 (n)
  • 60.87 (a)
SCLT1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCLT1 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sclt1 35
  • 63.69 (n)
  • 55.13 (a)
Str.17503 35
zebrafish
(Danio rerio)
Actinopterygii sclt1 35
  • 56.27 (n)
  • 49.71 (a)
sclt1 36
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7157 36
  • 32 (a)
OneToOne
Species with no ortholog for SCLT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCLT1 Gene

ENSEMBL:
Gene Tree for SCLT1 (if available)
TreeFam:
Gene Tree for SCLT1 (if available)

Paralogs for SCLT1 Gene

genes like me logo Genes that share paralogs with SCLT1: view

No data available for Paralogs for SCLT1 Gene

Variants for SCLT1 Gene

Sequence variations from dbSNP and Humsavar for SCLT1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10028124 - 128,946,125(+) ATCAC(A/T)CTCAT nc-transcript-variant, reference, missense
rs4052 -- 128,924,772(-) AGGTT(A/C/G/T)GTTTC intron-variant
rs4165 -- 129,020,933(+) aaata(A/G)taagc intron-variant
rs280592 -- 129,018,570(+) TCACT(A/C)TTCTT intron-variant
rs280594 -- 129,021,132(+) cgctt(C/T)accca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCLT1 Gene

Variant ID Type Subtype PubMed ID
nsv517249 CNV Gain 19592680
nsv4505 CNV Insertion 18451855
esv2670641 CNV Deletion 23128226
nsv522694 CNV Loss 19592680
esv2656466 CNV Deletion 23128226
nsv879931 CNV Loss 21882294
nsv822718 CNV Gain 20364138

Variation tolerance for SCLT1 Gene

Residual Variation Intolerance Score: 75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.77; 58.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCLT1 Gene

HapMap Linkage Disequilibrium report
SCLT1
Human Gene Mutation Database (HGMD)
SCLT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCLT1 Gene

Disorders for SCLT1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SCLT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypertrophy of breast
  • breasts enlarged
orofaciodigital syndrome
  • orofaciodigital syndrome i
- elite association - COSMIC cancer census association via MalaCards
Search SCLT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SCLT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCLT1
genes like me logo Genes that share disorders with SCLT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SCLT1 Gene

Publications for SCLT1 Gene

  1. Centriole distal appendages promote membrane docking, leading to cilia initiation. (PMID: 23348840) Tanos B.E. … Tsou M.F. (Genes Dev. 2013) 3 4 67
  2. CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8. (PMID: 15797711) Liu C. … Dib-Hajj S.D. (Mol. Cell. Neurosci. 2005) 2 3
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. (PMID: 24285566) Adly N. … Alkuraya F.S. (Hum. Mutat. 2014) 3

Products for SCLT1 Gene

Sources for SCLT1 Gene

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