Property Summary

NCBI Gene PubMed Count 11
PubMed Score 1.23
PubTator Score 3.40

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Gene RIF (2)

PMID Text
24285566 study identified 2 cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX; the autozygome of each index harbored a single truncating variant and the affected genes (SCLT1 and TBC1D32/C6orf170) have roles in centrosomal biology and ciliogenesis; findings suggest a role of SCLT1 and TBC1D32 in ciliopathy pathogenesis
15797711 Functional study in rat suggests that CAP-1A links clathrin and a sodium channel.

AA Sequence

MAAEIDFLREQNRRLNEDFRRYQMESFSKYSSVQKAVCQGEGDDTFENLVFDQSFLAPLVTEYDKHLGEL      1 - 70
NGQLKYYQKQVGEMKLQLENVIKENERLHSELKDAVEKKLEAFPLGTEVGTDIYADDETVRNLQEQLQLA     71 - 140
NQEKTQAVELWQTVSQELDRLHKLYQEHMTEAQIHVFESQKQKDQLFDFQQLTKQLHVTNENMEVTNQQF    141 - 210
LKTVTEQSVIIEQLRKKLRQAKLELRVAVAKVEELTNVTEDLQGQMKKKEKDVVSAHGREEASDRRLQQL    211 - 280
QSSIKQLEIRLCVTIQEANQLRTENTHLEKQTRELQAKCNELENERYEAIVRARNSMQLLEEANLQKSQA    281 - 350
LLEEKQKEEDIEKMKETVSRFVQDATIRTKKEVANTKKQCNIQISRLTEELSALQMECAEKQGQIERVIK    351 - 420
EKKAVEEELEKIYREGRGNESDYRKLEEMHQRFLVSERSKDDLQLRLTRAENRIKQLETDSSEEISRYQE    421 - 490
MIQKLQNVLESERENCGLVSEQRLKLQQENKQLRKETESLRKIALEAQKKAKVKISTMEHEFSIKERGFE    491 - 560
VQLREMEDSNRNSIVELRHLLATQQKAANRWKEETKKLTESAEIRINNLKSELSRQKLHTQELLSQLEMA    561 - 630
NEKVAENEKLILEHQEKANRLQRRLSQAEERAASASQQLSVITVQRRKAASLMNLENI                631 - 688
//

Text Mined References (14)

PMID Year Title
24621683 2014 Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
24285566 2014 Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.
23733509 2013 Identification of submicroscopic genetic changes and precise breakpoint mapping in myelofibrosis using high resolution mate-pair sequencing.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23348840 2013 Centriole distal appendages promote membrane docking, leading to cilia initiation.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15797711 2005 CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Na(v)1.8.
More...