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Shfm1 Gene Detail
Summary
  • Symbol
    Shfm1
  • Name
    split hand/foot malformation (ectrodactyly) type 1
  • Synonyms
    DSS1, Shfdg1, Shfg
  • Feature Type
    protein coding gene
  • IDs
    MGI:109238
    NCBI Gene: 20422
  • Gene Overview
    MyGene.info: SEM1
Location & Maps
more
  • Genetic Map
    Chromosome 6, 2.59 cM, cytoband A2
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SEM1, SEM1, 26S proteasome complex subunit
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SEM1, SEM1, 26S proteasome complex subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DSS1, ECD, SHFD1, Shfdg1, SHFM1, SHSF1
  • Links
    NCBI Gene ID: 7979
    neXtProt AC: NX_P60896

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    13
  • Gene trapped
    11
  • Targeted
    2
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000024492 VEGA Gene Model | MGI Sequence Detail 21370 C57BL/6J ±  kb
transcript OTTMUST00000060094 VEGA | MGI Sequence Detail 1472 Not Applicable  
polypeptide OTTMUSP00000029297 VEGA | MGI Sequence Detail 70 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    266 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 84
    Genomic 1
    cDNA 80
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-36045, MGD-MRK-38283
References
more
  • Summaries
    All 42
    Developmental Gene Expression 11
    Gene Ontology 5
    Phenotypes 7
  • 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

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
11/29/2016
MGI 6.06
The Jackson Laboratory