Human Gene SHFM1 (uc003uoi.3) Description and Page Index
Description: Homo sapiens split hand/foot malformation (ectrodactyly) type 1 (SHFM1), mRNA. RefSeq Summary (NM_006304): The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr7:96,318,079-96,339,203 Size: 21,125 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr7:96,318,236-96,339,075 Size: 20,840 Coding Exon Count: 3
ID:DSS1_HUMAN DESCRIPTION: RecName: Full=26S proteasome complex subunit DSS1; AltName: Full=Deleted in split hand/split foot protein 1; AltName: Full=Split hand/foot deleted protein 1; AltName: Full=Split hand/foot malformation type 1 protein; FUNCTION: Subunit of the 26S proteasome which plays a role in ubiquitin-dependent proteolysis. SUBUNIT: Part of the 26S proteasome. Interacts with the C-terminal of BRCA2. INTERACTION: P51587:BRCA2; NbExp=4; IntAct=EBI-79819, EBI-79792; TISSUE SPECIFICITY: Expressed in limb bud, craniofacial primordia and skin. SIMILARITY: Belongs to the DSS1/SEM1 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SHFM1";
Genetic Association Studies of Complex Diseases and Disorders
Immunoglobulin A Ricardo C Ferreira et al. Nature genetics 2010, Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency., Nature genetics.
Response to radiation Nifang Niu et al. Genome research 2010, Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines., Genome research.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P60896
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.