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Protein Coding Gene : Sumf1 sulfatase modifying factor 1

Primary Identifier  MGI:1889844 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  58911
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables identical protein binding activity. Predicted to be involved in post-translational protein modification. Located in endoplasmic reticulum. Is expressed in several structures, including brain; brown fat; eye; genitourinary system; and gut. Used to study mucosulfatidosis. Human ortholog(s) of this gene implicated in mucosulfatidosis. Orthologous to human SUMF1 (sulfatase modifying factor 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • Sumf1,
  • AA543204,
  • MGI:3034440,
  • expressed sequence AA543204,
  • AI851573,
  • MGI:2141504,
  • sulfatase modifying factor 1,
  • AI463102,
  • EST AI463102,
  • expressed sequence AI851573

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

9 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For