Property Summary

NCBI Gene PubMed Count 14
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 5.7e-14
glioblastoma -2.400 1.3e-03
medulloblastoma -3.400 7.6e-08
medulloblastoma, large-cell -3.400 3.3e-05
non-small cell lung cancer -1.075 2.9e-03
intraductal papillary-mucinous neoplasm ... 1.500 1.8e-02
breast carcinoma 1.600 1.6e-04
fibroadenoma 1.700 8.3e-03
pediatric high grade glioma -1.900 3.6e-04
pilocytic astrocytoma -2.100 9.9e-07
lung adenocarcinoma -1.100 4.6e-03
nasopharyngeal carcinoma -3.600 2.6e-06
ductal carcinoma in situ 1.100 1.2e-03
Breast cancer -1.400 1.5e-03
chronic rhinosinusitis -2.037 3.2e-02
psoriasis -1.100 6.9e-38

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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10830953 2000 The DNA sequence of human chromosome 21.
9578619 1998 Molecular cloning and characterization of meichroacidin (male meiotic metaphase chromosome-associated acidic protein).
9403069 1997 Mapping of eight testis-specific genes to mouse chromosomes.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.