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Sumf1
Gene Detail
Symbol

Name
ID
Sumf1
sulfatase modifying factor 1
MGI:1889844
Feature Type
protein coding gene
Genetic Map
Chromosome 6
49.71 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:108107028-108185582 bp, - strand
From VEGA annotation of GRCm38

  78555 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:16268  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Sumf1

Human
homologs
Human Homolog SUMF1, sulfatase modifying factor 1
NCBI Gene ID 285362
neXtProt AC  NX_Q8NBK3
Human Synonyms  AAPA3037, FGE
Human Chr (Location)  3p26.1; chr3:3782503-4467282 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human SUMF1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes lacking all sulfatase activities exhibit frequent early postnatal lethality and growth retardation, skeletal anomalies, neurological defects, and massive GAG accumulation and cell vacuolization in all tissues in association with systemic inflammation, apoptosis, and neurodegeneration.
 
Human Diseases Modeled Using Mouse Sumf1 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(2)
Interactions
Sumf1 interacts with 201 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process oxidation-reduction process
Component endoplasmic reticulum
Function dimethyl sulfoxide reductase activity, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(42)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(42) cDNA(42)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000035993 (Evidence)
Ensembl Gene ModelENSMUSG00000030101 (Evidence)
Entrez Gene58911 (Evidence)
UniGene439876
DFCITC1579157
DoTSDT.532916
NIA Mouse Gene IndexU027704
EC1.8.99.-
Consensus CDS ProjectCCDS51868.1
International Mouse Knockout Project StatusSumf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000035993 VEGA Gene Model | MGI Sequence Detail 78555 C57BL/6J ±  kb
transcript OTTMUST00000092361 VEGA | MGI Sequence Detail 2593 Not Applicable 
polypeptide OTTMUSP00000051026 VEGA | MGI Sequence Detail 372 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(8) UniProt(7)
Polymorphisms
SNPs within 2kb(964 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR016187 C-type lectin fold
InterPro IPR005532 Formylglycine-generating sulphatase enzyme domain
Protein Ontology PR:000015827 sulfatase-modifying factor 1
References
(Earliest) J:91812 Stryke D, et al., BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Nucleic Acids Res. 2003 Jan 1;31(1):278-81
(Latest) J:188481 Di Malta C, et al., Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):E2334-42
All references(43)
Disease annotation references (1)
Other
accession IDs
MGI:2141504, MGI:3034440

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
12/09/2014
MGI 5.20
The Jackson Laboratory