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

Chr6:6558283-6578652 bp, - strand From VEGA annotation of GRCm38   20370 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; chr7:96318079-96339203 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SHFM1

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 Type	Results
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 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 Knockout Project Status	Shfm1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000024492	VEGA Gene Model | MGI Sequence Detail	20370	C57BL/6J
transcript	OTTMUST00000060094	VEGA | MGI Sequence Detail	477	Not Applicable
polypeptide	OTTMUSP00000029297	VEGA | MGI Sequence Detail	70	Not Applicable

All sequences(26) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(142 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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