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Shfm1
Gene Detail
Symbol

Name
ID
Shfm1
split hand/foot malformation (ectrodactyly) type 1
MGI:109238
Synonyms
DSS1, Shfdg1, Shfg
Feature Type
protein coding gene
Genetic Map
Chromosome 6
2.59 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr6:6557294-6578658 bp, - strand
From VEGA annotation of GRCm38

  21365 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:38165  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 zebrafish

HCOP human homology predictions: SHFM1
Gene Tree: Shfm1

Human
homologs
SHFM1, split hand/foot malformation (ectrodactyly) type 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 7979
neXtProt AC: NX_P60896

Human Synonyms: DSS1, ECD, SEM1, SHFD1, Shfdg1, SHSF1

Human Chr (Location): 7q21.3; chr7:96688767-96709891 (-)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(11) Targeted(2)
Interactions
Shfm1 interacts with 26 markers (Mir7-1, Mir151, Mir181a-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process double-strand break repair via homologous recombination, proteolysis
Component integrator complex, nucleus, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (235)    Tissues (158)    Images (45)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 189
RT-PCR 46
cDNA source data(79)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase shfm1 ; ZFIN shfm1    NEW 
Molecular
reagents
All nucleic(84) Genomic(1) cDNA(80) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000024492 (Evidence)
Ensembl Gene Model ENSMUSG00000042541 (Evidence)
Entrez Gene 20422 (Evidence)
UniGene 2469
DFCI TC1575444
DoTS DT.534171, DT.55187205, DT.91315251
NIA Mouse Gene Index U027028
Consensus CDS Project CCDS39422.1
International Mouse Phenotyping Consortium Status Shfm1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024492 VEGA Gene Model | MGI Sequence Detail 21365 C57BL/6J ±  kb
transcript OTTMUST00000060094 VEGA | MGI Sequence Detail 1472 Not Applicable 
polypeptide OTTMUSP00000029297 VEGA | MGI Sequence Detail 70 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(2) UniProt(2)
Polymorphisms
SNPs within 2kb(271 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007834 DSS1/SEM1
Protein Ontology PR:000014840 26S proteasome complex subunit DSS1
References
(Earliest) J:32927 Crackower MA, et al., 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. Hum Mol Genet. 1996 May;5(5):571-9
(Latest) J:210222 Hupe M, et al., Evaluation of TRAP-sequencing technology with a versatile conditional mouse model. Nucleic Acids Res. 2014 Jan;42(2):e14
All references(44)
Other
accession IDs
MGD-MRK-36045, MGD-MRK-38283

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory