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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 dog; 1 chicken; 1 zebrafish

Gene Tree: Shfm1

Human
homologs
Human Homolog SHFM1, split hand/foot malformation (ectrodactyly) type 1
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
Alleles
and
phenotypes
All alleles(13) : Targeted(2) Gene trapped(11)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process double-strand break repair via homologous recombination, proteolysis
Component integrator complex, proteasome complex
Function peptidase activity, protein binding
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (235)    Tissues (157)    Images (45)
Theiler Stages: 20, 22, 23, 24, 28
Assay TypeResults
RNA in situ 189
RT-PCR 46
cDNA source data(79)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(84) Genomic(1) cDNA(80) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000024492 (Evidence)
Ensembl Gene ModelENSMUSG00000042541 (Evidence)
Entrez Gene20422 (Evidence)
UniGene2469
DFCITC1575444
DoTSDT.534171, DT.55187205, DT.91315251
NIA Mouse Gene IndexU027028
Consensus CDS ProjectCCDS39422.1
International Mouse Knockout Project StatusShfm1
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:188336 Birnbaum RY, et al., Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet. 2012 Nov 15;21(22):4930-8
All references(43)
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
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory