SUMF1 - sulfatase modifying factor 1 Gene

Homo sapiens

Also known as FGE; UNQ3037; AAPA3037

Gene ID: 285362 | Gene type: protein coding

About SUMF1

Cytogenetic location: 3p26.1 Genomic coordinates (GRCh38): 3:4,034,486-4,467,269 (from NCBI)

This gene has 8 transcripts (splice variants), 196 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues.

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]

SUMF1 Products(3)

mRNA	Protein	Name
NM_001164674.2	NP_001158146.1	formylglycine-generating enzyme isoform 2 precursor
NM_001164675.2	NP_001158147.1	formylglycine-generating enzyme isoform 3 precursor
NM_182760.4	NP_877437.2	formylglycine-generating enzyme isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cupric ion binding	IDA IDA: Inferred from direct assay	25931126	GOA
enables formylglycine-generating oxidase activity	IDA IDA: Inferred from direct assay	21224894	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15962010	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15962010	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in post-translational protein modification	IDA IDA: Inferred from direct assay	21224894	GOA
involved in protein oxidation	IDA IDA: Inferred from direct assay	21224894	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18266766	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SUMF1 Protein Structure

FGE-sulfatase

0
100
200
300
374 a.a.

Protein Preferred Names

Protein Names

formylglycine-generating enzyme

C-alpha-formylglycine-generating enzyme 1

Recombinant SUMF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71345	SUMF1 Protein, Human (HEK293, His)	Q8NBK3-1 (S34-D374)	≥95%

Related Diseases

Diseases

Alias

Multiple Sulfatase Deficiency

Mucosulfatidosis	MSD
Sulfatidosis, Juvenile, Austin Type	Multiple Sulfatase Deficiency Disease
Juvenile Sulfatidosis, Austin Type	Juvenile Sulfatidosis
Sulfatidosis Juvenile, Austin Type	Austin Syndrome
Sulfatidosis Juvenile Austin Type	Sulfatase Deficiency, Multiple

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency	MLD
Arsa Deficiency	Sulfatide Lipidosis
Metachromatic Leukoencephalopathy	Cerebral Sclerosis, Diffuse, Metachromatic Form
Cerebroside Sulfatase Deficiency	Leukodystrophy, Metachromatic
Pseudoarylsulfatase A Deficiency	Leukodystrophy Metachromatic
Sulfatidosis	Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy Variant	Deficiency Of Cerebroside-Sulfatase
Scholz Cerebral Sclerosis	Sulfatide Lipoidosis
Cerebral Sclerosis Diffuse Metachromatic Form	Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease	Greenfield Disease
Metachromatic Leukodystrophy, Adult	Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Adult	Leukodystrophy Metachromatic Juvenile
Leukodystrophy Metachromatic Late Infantile	Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy, Juvenile Type	Metachromatic Leukodystrophy, Infant
Greenfield'S Disease

Spinocerebellar Ataxia 15

SCA15	Spinocerebellar Ataxia Type 15
Spinocerebellar Ataxia Type 16	Sca16
Spinocerebellar Ataxia Type 15/16	Spinocerebellar Ataxia 16, Formerly
Sca16, Formerly	Spinocerebellar Ataxia 16
Sca15/16	Ataxia, Spinocerebellar, Type 15

Leukodystrophy

Leukodystrophies

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

X-Linked Chondrodysplasia Punctata 1

Chondrodysplasia Punctata 1, X-Linked	Arylsulfatase E Deficiency
Chondrodystrophia Calcificans Congenita	Cdpx1
X-Linked Recessive Chondrodysplasia Punctata 1	Brachytelephalangic Chondrodysplasia Punctata

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

Mucopolysaccharidosis, Type Iva

Mps Iva	Galns Deficiency
MPS4A	Morquio A Disease
Galactosamine-6-Sulfatase Deficiency	Morquio Syndrome A
Mucopolysaccharidosis Iva	Mucopolysaccharidosis Type Iva
Mpsiva	Morquio Disease Type A
Mucopolysaccharidosis Type 4a	N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
Morquio Syndrome Type A	Mps 4a
Morquio Disease, Type A	Mucopolysaccharidosis 4a
Morquio'S Syndrome A	Mps Iv A
Mucopolysaccharidosis Iv	Mucopolysaccharidosis, Mps-Iv-A

Hurler-Scheie Syndrome

Mucopolysaccharidosis Type Ih/S	Mucopolysaccharidosis Ih/S
MPS1H/S	Mpsih/S
Mucopolysaccharidosis Type 1h/S	Mps1-Hs
Alpha-L-Iduronidase Deficiency	Mucopolysaccharidosis I
Mucopolysaccharidosis 1h/S	Mps-Ih/S

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Mucopolysaccharidosis, Type Iiib

Mucopolysaccharidosis Type Iiib	MPS3B
Naglu Deficiency	Mps Iiib
Sanfilippo Syndrome B	N-Acetyl-Alpha-D-Glucosaminidase Deficiency
Mpsiiib	Mucopoly-Saccharidosis Type 3b
Mucopolysaccharidosis Type 3b	N-Acetyl-Alpha-Glucosaminidase Deficiency
Sanfilippo Syndrome Type B	Mps Iii B
Mps 3b	Mps Iii-B
Mucopolysaccharidosis 3b

Ichthyosis, X-Linked

X-Linked Ichthyosis	Steroid Sulfatase Deficiency
Placental Steroid Sulfatase Deficiency	Steroid Sulfatase Deficiency Disease
XLI	Sts Deficiency
Ssdd	X-Linked Recessive Ichthyosis
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency	X-Linked Placental Steryl-Sulphatase Deficiency
Ssd	X Linked Ichthyosis
Recessive X-Linked Ichthyosis	Rxli
Syndromic Recessive X-Linked Ichthyosis	Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
Syndromic Rxli	X-Linked Ichthyosis Syndrome
IXL	Ichthyosis X-Linked
Sex-Linked Ichthyosis	X-Linked Ichthyosis With Steryl-Sulfatase Deficiency

Mucopolysaccharidosis Iv

Morquio Syndrome	Mucopolysaccharidosis Type 4
Mucopolysaccharidosis Type Iv	Morquio Disease
Galactosamine-6-Sulfatase Deficiency	Mps4
Mpsiv	Morquio-Brailsford Disease
Chondroosteodystrophy	Deficiency Of Chondroitinsulphatase
Deficiency Of N-Acetylgalactosamine-6-Sulphatase	Mucopolysaccharidosis, Mps-Iv
Osteochondrodystrophy	Morquio'S Disease
Morquio'S Syndrome	Mps Iv
Mucopolysaccharidosis Iv	Morquios Syndrome
Mucopolysaccharidosis, Mps-Iv-A	Mucopolysaccharidosis Type Ivb
Galns Deficiency

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
MPSPS	Mucopolysaccharidoses
Mps	Mucopolysaccharidosis-Like Plus Disease
Disorders Of Glycosaminoglycan Metabolism

Mucopolysaccharidosis, Type Ii

Hunter Syndrome	Iduronate 2-Sulfatase Deficiency
Mucopolysaccharidosis Ii	Mps Ii
Mucopolysaccharidosis Type Ii	MPS2
Sulfoiduronate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Ii
Ids Deficiency	Sids Deficiency
I2s Deficiency	Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type 2, Severe Form	Deficiency Of Iduronate-2-Sulphatase
Hunter'S Syndrome	Mps Ii - Hunter Syndrome
Iduronate-2-Sulfatase Deficiency	Attenuated Mps
Mps 2	Severe Mps Ii
Mpsii	Mucopolysaccharidosis Type 2, Attenuated Form
Hunter Syndrome Type B	Iduronate 2-Sulfatase Deficiency Type B
Mps2b	Mpsiib
Mucopolysaccharidosis Type 2b	Mucopolysaccharidosis Type Ii, Attenuated Form
Mucopolysaccharidosis Type Iib	Hunter Syndrome Type A
Iduronate 2-Sulfatase Deficiency Type A	Mps2a
Mpsiia	Mucopolysaccharidosis Type 2a
Mucopolysaccharidosis Type Ii, Severe Form	Mucopolysaccharidosis Type Iia
Mucopolysaccharidosis 2	Hunters Syndrome
Iduronate 2-Sulphatase Deficiency	Iduronate Sulfatase Deficiency
Iduronate Sulphatase Deficiency	Sulfo-Iduronate Sulfatase Deficiency
Sulfoiduronidate Sulfatase Deficiency	Sulpho-Iduronate Sulphatase Deficiency
Sulphoiduronidate Sulphatase Deficiency	Mps2 - [Mucopolysaccharidosis 2]

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome	Arylsulfatase B Deficiency
Mucopolysaccharidosis Type Vi	Mps Vi
Mucopolysaccharidosis Vi	Mucopolysaccharidosis Type 6
MPS6	Arsb Deficiency
N-Acetylgalactosamine-4-Sulfatase Deficiency	Mucopolysaccharidosis 6
N-Acetylgalactosamine 4-Sulfatase Deficiency	Deficiency Of N-Acetylgalactosamine-4-Sulfatase
Maroteaux - Lamy Syndrome	Mps Vi - Maroteaux-Lamy Syndrome
Mps 6	Maroteaux Lamy Syndrome
Mucopoly-Saccharidosis Type Vi	Polydystrophic Dwarfism
Asb Deficiency	Mpsvi
Maroteaux-Lamy Disease	Arsb - [Arylsulfatase B] Deficiency

Mucopolysaccharidosis, Type Iiid

Mucopolysaccharidosis Type Iiid	MPS3D
Mps Iiid	N-Acetylglucosamine-6-Sulfatase Deficiency
Sanfilippo Syndrome D	Gns Deficiency
Mucopolysaccharidosis Type 3d	Sanfilippo Syndrome Type D
Glucosamine N-Acetyl-6-Sulfatase Deficiency	Mpsiiid
Mps 3d	Mucopoly-Saccharidosis Type 3d
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency	Mps Iii-D
Mucopolysaccharidosis 3d	Sanfilippo D Syndrome
Mps Iii D

Spinocerebellar Ataxia 25

Spinocerebellar Ataxia Type 25

SCA25

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Hurler Syndrome

Mucopolysaccharidosis Ih	Mucopolysaccharidosis Type Ih
Mps1-H	MPS1H
Hurler Disease	Mpsih
Mucopolysaccharidosis Type 1h	Alpha-L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome	L-Iduronidase Deficiency, Hurler Type
Mucopolysaccharidosis Type I Severe Form	Mucopolysaccharidosis 1h
Hurler'S Syndrome	Mps Ih
Mps-Ih	Pfaundler-Hurler Syndrome
Mucopolysaccharidosis I

Cerebral Palsy, Ataxic, Autosomal Recessive

Ataxic Cerebral Palsy	Acp
Hypotonic Cerebral Palsy	Cerebral Palsy Ataxic
Cerebral Palsy, Atonic	Congenital Cerebral Palsy With Ataxia
Ataxic Cerebral Paralysis	Ataxia With Cerebral Palsy
Cerebral Infantile Diataxia

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Naga Deficiency Type 2
Schindler Disease, Type Ii	Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
Schindler Disease Type 2	Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset	Naga Deficiency, Type Ii
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset	KANZD
Naga Deficiency Type Ii	Schindler Disease Type Ii

Gm2-Gangliosidosis, Ab Variant

Hexosaminidase Activator Deficiency	Tay-Sachs Disease, Ab Variant
Gm2 Gangliosidosis, Ab Variant	Gm2 Activator Deficiency
Tay-Sachs Disease, Variant Ab	Tay-Sachs Disease Ab Variant
Ab Variant Gm2-Gangliosidosis	Tay-Sachs Variant Ab
Ab Variant	Activator Deficiency/Gm2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease	Gm2 Activator Deficiency Disease
Gm2 Gangliosidosis, Type Ab	Gm2-Gangliosidosis Ab
GM2GAB	Gm2-Gangliosidosis Ab Variant
Gangliosidosis Gm2 Ab Variant	Gm2-Gangliosidosis, Variant Ab

Mucopolysaccharidosis, Type Iiic

Mucopolysaccharidosis Type Iiic	MPS3C
Mps Iiic	Sanfilippo Syndrome C
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency	Hgsnat Deficiency
Mpsiiic	Mucopolysaccharidosis Type 3c
Sanfilippo Syndrome Type C	Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
Mucopoly-Saccharidosis Type 3c	Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency	Mps 3c
Mps Iii-C	Mucopolysaccharidosis 3c
Mucopolysaccharidosis Iii	Mps Iii C

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Letalis
JEB1B	Epidermolysis Bullosa Junctionalis, Herlitz Type
Jeb-Herlitz Type	Herlitz-Pearson-Type Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Herlitz Type	Jeb-H
Junctional Epidermolysis Bullosa Generalisata Gravis	Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe	Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Herlitz Type Epidermolysis Bullosa Junctionalis	Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Herlitz Type	Severe Generalized Jeb
Epidermolysis Letalis	Junctional Epidermolysis Bullosa Gravis
Junctional Epidermolysis Bullosa Herlitz-Pearson Type	Herlitz Disease

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency	Gangliosidosis Gm1
Deficiency Of Beta-Galactosidase	Beta Galactosidase 1 Deficiency
Beta-Galactosidosis	Glb 1 Deficiency
Beta-Galactosidase-1 Deficiency	Beta-Galactosidase-1 Deficiency
Glb1 Deficiency	Landing Disease
Gangliosidosis, Gm1

Canavan Disease

Aspartoacylase Deficiency	Aminoacylase 2 Deficiency
Spongy Degeneration Of Central Nervous System	Aspa Deficiency
Acy2 Deficiency	Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease	Asp Deficiency
Spongy Degeneration Of The Central Nervous System	Severe Canavan Disease
Von Bogaert-Bertrand Disease	Canavan'S Disease
Spongy Degeneration Of The Brain	Juvenile Canavan Disease
Infantile Canavan Disease	Neonatal Canavan Disease
CAND	Disease, Canavan
Canavan Disease, Juvenile	Canavan Disease, Infantile
Canavan Disease, Neonatal

Sphingolipidosis

Sphingolipidoses

Gillespie Syndrome

GLSP	Aniridia, Cerebellar Ataxia And Mental Deficiency
Aniridia Cerebellar Ataxia Mental Deficiency	Aniridia, Cerebellar Ataxia, And Mental Retardation
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia-Cerebellar Ataxia-Intellectual Disability
Aniridia-Cerebellar Ataxia-Mental Deficiency	Partial Aniridia-Cerebellar Ataxia-Oligophrenia
Aniridia, Cerebellar Ataxia, And Intellectual Disability

Mucopolysaccharidosis, Type Ivb

Mucopolysaccharidosis Type Ivb	Mps Ivb
MPS4B	Morquio Syndrome B
Beta-D-Galactosidase Deficiency	Morquio Disease Type B
Mps 4b	Mucopolysaccharidosis Type 4b
Mpsivb	Morquio Disease, Type B
Mucopolysaccharidosis Type Iv-B	Mucopolysaccharidosis 4b
Morquio'S Syndrome B	Mps-Ivb

Gangliosidosis

Gangliosidoses

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14023	SUMF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SUMF1	MGD	MGI:1889844
Felis catus	SUMF1	VGNC	VGNC:65840
Canis familiaris	SUMF1	VGNC	VGNC:46982
Macaca mulatta	SUMF1	VGNC	VGNC:78177
Bos taurus	SUMF1	VGNC	VGNC:35471
Others	SUMF1	NCBI