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SUMF1

GENERAL INFORMATION

Gene name

 SUMF1

Gene description

 Sulfatase modifying factor 1

Protein class

 Disease related genes
Predicted secreted proteins

Predicted localization

 Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Secreted protein, tissue location of RNA and protein might differ and correlation is complex. Antibody staining in cells/structures not annotated, view images.

Reliability score

 Uncertain based on 1 antibody.
HPA038025
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 SUMF1 (HGNC Symbol)

Synonyms

 FGE, UNQ3037

Description

 Sulfatase modifying factor 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Chromosome

 3

Cytoband

Chromosome location (bp)

 3700814 - 4467281

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000144455 (version 83.38)

Entrez gene

 285362

UniProt

 Q8NBK3 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NBK3

Antibodypedia

 SUMF1 antibodies

PROTEIN BROWSER
SUMF1-001
SUMF1-002
SUMF1-003
SUMF1-005

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SUMF1-001
ENSP00000272902
ENST00000272902
Q8NBK3 [Direct mapping]
Sulfatase-modifying factor 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0042803 [protein homodimerization activity]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055114 [oxidation-reduction process]
Show all
 374 aa
40.6 kDa 		Yes 0
SUMF1-002
ENSP00000384977
ENST00000405420
Q8NBK3 [Direct mapping]
Sulfatase-modifying factor 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005788 [endoplasmic reticulum lumen]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055114 [oxidation-reduction process]
Show all
 354 aa
38.4 kDa 		Yes 0
SUMF1-003
ENSP00000410060
ENST00000458465
E9PF05 [Direct mapping]
Sulfatase-modifying factor 1
Show all
   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 242 aa
25.7 kDa 		Yes 0
SUMF1-005
ENSP00000373355
ENST00000383843
Q8NBK3 [Direct mapping]
Sulfatase-modifying factor 1
Show all
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005788 [endoplasmic reticulum lumen]
GO:0006665 [sphingolipid metabolic process]
GO:0006687 [glycosphingolipid metabolic process]
GO:0016491 [oxidoreductase activity]
GO:0043687 [post-translational protein modification]
GO:0044267 [cellular protein metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0055114 [oxidation-reduction process]
Show all
 349 aa
37.8 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.