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Sumf1 Gene Detail
Summary
  • Symbol
    Sumf1
  • Name
    sulfatase modifying factor 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1889844
    NCBI Gene: 58911
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:108083989-108162543 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 49.71 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2649 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1889844
 protein coding gene Chr6:108083989-108162552 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031099
 protein coding gene Chr6:110363812-110441191 (-)
A/J MGP_AJ_G0031068
 protein coding gene Chr6:106176680-106255790 (-)
AKR/J MGP_AKRJ_G0030999
 protein coding gene Chr6:109032721-109125948 (-)
BALB/cJ MGP_BALBcJ_G0031079
 protein coding gene Chr6:106113127-106193174 (-)
C3H/HeJ MGP_C3HHeJ_G0030629
 protein coding gene Chr6:75214823-75297005 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031538
 protein coding gene Chr6:113268291-113354961 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028702
 protein coding gene Chr6:103476297-103554761 (-)
CAST/EiJ MGP_CASTEiJ_G0030186
 protein coding gene Chr6:109415600-109502747 (-)
CBA/J MGP_CBAJ_G0030765
 protein coding gene Chr6:117647281-117740849 (-)
DBA/2J MGP_DBA2J_G0030918
 protein coding gene Chr6:105325928-105405463 (-)
FVB/NJ MGP_FVBNJ_G0030872
 protein coding gene Chr6:104349382-104428283 (-)
LP/J MGP_LPJ_G0030998
 protein coding gene Chr6:110438492-110518271 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030906
 protein coding gene Chr6:121872952-121966911 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031565
 protein coding gene Chr6:108997087-109076871 (-)
PWK/PhJ MGP_PWKPhJ_G0029902
 protein coding gene Chr6:104231278-104315879 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029730
 protein coding gene Chr6:107782267-107863511 (-)
WSB/EiJ MGP_WSBEiJ_G0030270
 protein coding gene Chr6:109529051-109613513 (-)



Homology
more
  • Human Ortholog
    SUMF1, sulfatase modifying factor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SUMF1, sulfatase modifying factor 1
  • Synonyms
    AAPA3037, FGE, UNQ3037
  • Links
    NCBI Gene ID: 285362
    neXtProt AC: NX_Q8NBK3
    UniProt: Q8NBK3

  • Chr Location
    3p26.1; chr3:3700814-4467273 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Sumf1 mouse models; 1 with human SUMF1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    28 phenotypes from 2 alleles in 2 genetic backgrounds
    2 images
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    744
  • Tissues
    23
  • cDNA Data
    43
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030101 Ensembl Gene Model | MGI Sequence Detail 78555 C57BL/6J ±  kb
    transcript ENSMUST00000032191 Ensembl | MGI Sequence Detail 2593 Not Applicable  
    polypeptide ENSMUSP00000032191 Ensembl | MGI Sequence Detail 372 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 44
      cDNA 43
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2141504, MGI:3034440
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 6
      Phenotypes 27
    • Earliest
      J:87486 Akeson EC, Chromosomal inversion discovered in C3H/HeJ mice. JAX Notes. 2003;491:15
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory