Property Summary

NCBI Gene PubMed Count 14
Grant Count 7
R01 Count 6
Funding $606,841.11
PubMed Score 18.75
PubTator Score 13.46

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
posterior fossa group B ependymoma 3.400 0.000
glioblastoma -2.400 0.001
medulloblastoma -3.400 0.000
medulloblastoma, large-cell -3.400 0.000
non-small cell lung cancer -1.075 0.003
intraductal papillary-mucinous neoplasm ... 1.500 0.018
breast carcinoma 1.600 0.000
fibroadenoma 1.700 0.008
pediatric high grade glioma -1.900 0.000
pilocytic astrocytoma -2.100 0.000
lung adenocarcinoma -1.100 0.005
nasopharyngeal carcinoma -3.600 0.000
ductal carcinoma in situ 1.100 0.001
Breast cancer -1.400 0.002
chronic rhinosinusitis -2.037 0.032
psoriasis -1.100 0.000

Gene RIF (4)

PMID Text
25473808 RSPH1 mutations in primary ciliary dyskinesia cause structural defects in the cilia.
24568568 Milder disease in patients with biallelic mutations in RSPH1 provides evidence of a unique genotype-phenotype relationship in primary ciliary dyskinesia, suggesting that mutations in RSPH1 may be associated with residual ciliary function.
23993197 RSPH1 mutations thus appear as a major etiology for primary ciliary dyskinesia phenotype.
17451891 Radial spoke protein 44 denotes the restricted localization of the protein to the radial spokes of the axonemes of both sperm and cilia.

AA Sequence

MSDLGSEELEEEGENDIGEYEGGRNEAGERHGRGRARLPNGDTYEGSYEFGKRHGQGIYKFKNGARYIGE      1 - 70
YVRNKKHGQGTFIYPDGSRYEGEWANDLRHGHGVYYYINNDTYTGEWFAHQRHGQGTYLYAETGSKYVGT     71 - 140
WVNGQQEGTAELIHLNHRYQGKFLNKNPVGPGKYVFDVGCEQHGEYRLTDMERGEEEEEEELVTVVPKWK    141 - 210
ATQITELALWTPTLPKKPTSTDGPGQDAPGAESAGEPGEEAQALLEGFEGEMDMRPGDEDADVLREESRE    211 - 280
YDQEEFRYDMDEGNINSEEEETRQSDLQD                                             281 - 309
//

Text Mined References (15)

PMID Year Title
25473808 2014 Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.
25416956 2014 A proteome-scale map of the human interactome network.
25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
24568568 2014 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
21630459 2011 Proteomic characterization of the human sperm nucleus.
17451891 2007 Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia.
16780588 2006 Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
More...