SUMF1 (sulfatase modifying factor 1)

2014-11-01  

Identity

HGNC
SUMF1
LOCATION
3p26.1
LOCUSID
285362
ALIAS
AAPA3037,FGE,UNQ3037
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285362
MIM: 607939
HGNC: 20376
Ensembl: ENSG00000144455

Variants:

dbSNP: 285362
ClinVar: 285362
TCGA: ENSG00000144455
COSMIC: SUMF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144455ENST00000272902Q8NBK3
ENSG00000144455ENST00000383843Q8NBK3
ENSG00000144455ENST00000405420Q8NBK3
ENSG00000144455ENST00000448413F5GXA0
ENSG00000144455ENST00000458465E9PF05

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
The activation of arylsulfatasesREACTOMER-HSA-1663150
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384609462024SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma.0
384609462024SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma.0
373447882023Association between SUMF1 polymorphisms and COVID-19 severity.1
373447882023Association between SUMF1 polymorphisms and COVID-19 severity.1
320484572020A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.2
324141212020Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.19
326215192020A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.7
327497162020Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.14
320484572020A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.2
324141212020Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.19
326215192020A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.7
327497162020Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.14
294796722018The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.0
299727882018Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase.8
301241082018Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation.7

Citation

Dessen P

SUMF1 (sulfatase modifying factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74371/meetings/hgnc