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
179321202008Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.45
185798052008Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.41
185088572008Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.23
181785492008ERp44 mediates a thiol-independent retention of formylglycine-generating enzyme in the endoplasmic reticulum.14
159620102005Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.11
151464622004Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.0
156570362005Molecular characterization of the human Calpha-formylglycine-generating enzyme.0
159074682005Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.0
172069392007SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.0
174468592007Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.0

Citation

Dessen P

SUMF1 (sulfatase modifying factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74371/sumf1