Property Summary

NCBI Gene PubMed Count 40
PubMed Score 627.13
PubTator Score 170.41

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
non-small cell lung cancer 1.009 2.3e-19
lung cancer 1.500 9.4e-05
sonic hedgehog group medulloblastoma 1.100 2.4e-04
Pneumonia -1.800 1.9e-03
subependymal giant cell astrocytoma 1.080 1.5e-02

Gene RIF (19)

PMID Text
26839112 three phenotypic subregions within the SHFM1 locus link both size and genomic position of the chromosomal aberrations to the clinical variability seen in SHFM1 patients
26145171 by targeting RPA and mimicking DNA, DSS1 functions with BRCA2 in a two-component homologous recombination mediator complex in genome maintenance and tumor suppression
25697906 SHFM1 confers cell cycle progression and resistance to p53 stabilizing drugs in gastric cancer cells.
24289229 Breast cancers with high DSS1 expression have worse prognosis and shorter relapse-free survival times.
23371468 Mutation screening of the SHFM1 gene in familial breast/ovarian cancer cases.
23024267 DSS1 protein is critically involved in the maintenance of the transformed phenotype in cervical cancer cells, and that it might be a specific, robust and reliable marker for early detection, diagnosis and trea
20817001 DSS1 has a role in homologous recombinational repair in human cells
20808887 p63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and DLX5 which are important for limb development.
20610542 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20220765 The DSS1 c.143G>A variant is associated with reduced DSS1 expression at RNA and protein levels and altered traffic of the DSS1 protein from the cytoplasm to the nucleus. These alterations could impair DSS1 function and may be implicated in skin cancer.
20220765 Observational study of gene-disease association. (HuGE Navigator)
19690177 Observational study of gene-disease association. (HuGE Navigator)
18950845 Observational study of gene-disease association. (HuGE Navigator)
18775730 Data suggest that the R3IM motif of DSS1, in conjunction with the complexes of 19S RP and 20S core particle, regulates proteasome interaction through RPN3/S3 molecule, and utilizes a specific subset of poly-ubiquitinated p53 as a substrate.
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17563742 DSS1 has been shown to interact with components of the 26S proteasome in Saccharomyces cerevisiae and in human tumour cells
17406092 DSS1, responsible for autism, was studied in a linkage disequilibrium model.
17066443 Observational study of genotype prevalence. (HuGE Navigator)
12228710 3.1 angstrom crystal structure of approximately 90-kilodalton BRCA2 domain bound to DSS1, which reveals three oligonucleotide-binding (OB) folds and a helix-turn-helix (HTH) motif

AA Sequence

MSEKKQPVDLGLLEEDDEFEEFPAEDWAGLDEDEDAHVWEDNWDDDNVEDDFSNQLRAELEKHGYKMETS      1 - 70
//

Text Mined References (43)

PMID Year Title
26839112 2016 Phenotypic subregions within the split-hand/foot malformation 1 locus.
26145171 2015 Promotion of BRCA2-Dependent Homologous Recombination by DSS1 via RPA Targeting and DNA Mimicry.
25697906 2015 Upregulated, 7q21-22 amplicon candidate gene SHFM1 confers oncogenic advantage by suppressing p53 function in gastric cancer.
25416956 2014 A proteome-scale map of the human interactome network.
25293881 2015 The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations.
24896180 2014 BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2.
24289229 2013 Breast cancers with high DSS1 expression that potentially maintains BRCA2 stability have poor prognosis in the relapse-free survival.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23371468 2013 Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.
23024267 2013 Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer.
22307388 2012 Functional and structural characterization of the mammalian TREX-2 complex that links transcription with nuclear messenger RNA export.
22293751 2012 APRIN is a cell cycle specific BRCA2-interacting protein required for genome integrity and a predictor of outcome after chemotherapy in breast cancer.
21719596 2011 A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
20817001 2010 Depletion of DSS1 protein disables homologous recombinational repair in human cells.
20808887 2010 Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
20732625 2010 Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
20694011 2010 Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency.
20610542 2010 Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk.
20220765 2010 Association of the DSS1 c.143G>A polymorphism with skin squamous cell carcinoma.
19690177 2009 Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.
18950845 2009 Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
18775730 2008 Identification of a specific motif of the DSS1 protein required for proteasome interaction and p53 protein degradation.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
17563742 2007 The proteasome is involved in determining differential utilization of double-strand break repair pathways.
17406092 2006 Sample size computation for association studies using case-parents design.
17323924 2007 Mass spectrometric characterization of the affinity-purified human 26S proteasome complex.
17066443 2007 Mutations in the BRCA2 interacting DSS1 are not a risk factor for male breast cancer.
16239144 2005 Integrator, a multiprotein mediator of small nuclear RNA processing, associates with the C-terminal repeat of RNA polymerase II.
16205630 2006 DSS1 is required for the stability of BRCA2.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15117943 2004 Sem1p is a novel subunit of the 26 S proteasome from Saccharomyces cerevisiae.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12228710 2002 BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure.
10373512 1999 Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.
9927667 1999 SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast.
9847074 1998 Toward a complete human genome sequence.
8733122 1996 Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
1895319 1991 Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.
1877619 1991 Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.