Version 5.4
Homo sapiens Gene: SHFM1
Summary
InnateDB Gene IDBG-28030.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SHFM1
Gene Name split hand/foot malformation (ectrodactyly) type 1
Synonyms DSS1; ECD; SEM1; SHFD1; Shfdg1; SHSF1
Species Homo sapiens
Ensembl Gene ENSG00000127922
Encoded Proteins
IDBP-28032
split hand/foot malformation (ectrodactyly) type 1
IDBP-382407
split hand/foot malformation (ectrodactyly) type 1
IDBP-382408
split hand/foot malformation (ectrodactyly) type 1
IDBP-382409
split hand/foot malformation (ectrodactyly) type 1
IDBP-382410
split hand/foot malformation (ectrodactyly) type 1
IDBP-813827
split hand/foot malformation (ectrodactyly) type 1
IDBP-813835
split hand/foot malformation (ectrodactyly) type 1
IDBP-813829
split hand/foot malformation (ectrodactyly) type 1
IDBP-813830
split hand/foot malformation (ectrodactyly) type 1
IDBP-813831
split hand/foot malformation (ectrodactyly) type 1
IDBP-813832
split hand/foot malformation (ectrodactyly) type 1
IDBP-813833
split hand/foot malformation (ectrodactyly) type 1
IDBP-813834
split hand/foot malformation (ectrodactyly) type 1
IDBP-813836
split hand/foot malformation (ectrodactyly) type 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:96481626-96709891
Strand Reverse strand
Band q21.3
Transcripts
ENST00000248566 ENSP00000248566
ENST00000417009 ENSP00000416322
ENST00000444799 ENSP00000390049
ENST00000449279 ENSP00000392852
ENST00000413065 ENSP00000409481
ENST00000493858
ENST00000466986 ENSP00000481400
ENST00000488005 ENSP00000478651
ENST00000482389
ENST00000476463
ENST00000611360
ENST00000618105 ENSP00000484478
ENST00000619259 ENSP00000480885
ENST00000617133 ENSP00000484726
ENST00000613919 ENSP00000482085
ENST00000606019
ENST00000616956
ENST00000622838
ENST00000623693 ENSP00000485353
ENST00000623498 ENSP00000485341
ENST00000618028
ENST00000622128
ENST00000615352 ENSP00000481021
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 146 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 146 [view]
Protein-Protein 145 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008233 peptidase activity
Biological Process
GO:0000724 double-strand break repair via homologous recombination
GO:0006508 proteolysis
Cellular Component
GO:0000502 proteasome complex
GO:0032039 integrator complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000042541
View Gene Order
ENSBTAG00000034496
Not yet available
Pathways
NETPATH
REACTOME
KEGG
hsa03050
Proteasome pathway
hsa03440
Homologous recombination pathway
INOH
PID NCI
Cross-References
SwissProt P60896
TrEMBL Q6IBB7
UniProt Splice Variant
Entrez Gene 7979
UniGene Hs.489201 Hs.734935
RefSeq NM_006304 NM_001201450 NM_001201451
HUGO HGNC:10845
OMIM 601285
CCDS CCDS5646 CCDS75638
HPRD 03182
IMGT
EMBL AC073230 AK291070 BC032782 CH236949 CH471091 CR456887 U41515
GenPept AAA91179 AAH32782 AAQ93368 BAF83759 CAG33168 EAL24125 EAW76746
RNA Seq Atlas 100506136 401388 7979

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca