Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	285362
Gene name	Sulfatase modifying factor 1
Gene symbol	SUMF1
Synonyms (NCBI Gene)	AAPA3037FGEUNQ3037
Chromosome	3
Chromosome location	3p26.1
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 multi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852844	G>A,T	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852845	G>A,C	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs137852846	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852847	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852848	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852849	G>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852850	A>G	Pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852851	A>C	Pathogenic	Initiator codon variant, missense variant
rs137852852	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852853	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852854	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852855	T>C	Pathogenic	Initiator codon variant, missense variant
rs146050361	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs387906976	C>A	Pathogenic	Missense variant, coding sequence variant
rs770241913	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs775324176	TACT>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs986500427	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1057517363	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793391	T>C	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1085307107	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553575867	A>C	Pathogenic	Stop gained, coding sequence variant
rs1575196325	CT>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant
rs1575197564	C>T	Pathogenic	Stop gained, coding sequence variant
rs1575266004	CCTTTGAGTGCGCGAGTTGCCGCTCTCCGGGTACGGGGCCCGGAGCGTTAGCCTCCCGCGAGTATCGGTGAGCGGCTGCCGAACTGCCATGGGCGCCAGGCCGCTGGGGCGTGCCGCAGCCGCAAGAACCCGCAAGGGACCCCGCGCCCGCACCGGTCCCGGCCTCCTGGCTCCCTGCCGCTCCACACAGCAGCGAGAGCAGCAGCAGCAAGAGGACGAGACCCAGCTCAGGGCAACGTCCACACACCA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1575266034	G>C	Pathogenic	Stop gained, coding sequence variant

183

Show/Hide all (183)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019314	hsa-miR-148b-3p	Microarray	17612493
MIRT020442	hsa-miR-106b-5p	Microarray	17242205
MIRT022044	hsa-miR-128-3p	Microarray	17612493
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402948	hsa-miR-197	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT1402953	hsa-miR-3682-3p	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT1402955	hsa-miR-371-5p	CLIP-seq
MIRT1402956	hsa-miR-371b-5p	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402959	hsa-miR-4432	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT1402963	hsa-miR-4695-3p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402965	hsa-miR-548a-5p	CLIP-seq
MIRT1402966	hsa-miR-548ab	CLIP-seq
MIRT1402967	hsa-miR-548ak	CLIP-seq
MIRT1402968	hsa-miR-548b-5p	CLIP-seq
MIRT1402969	hsa-miR-548c-5p	CLIP-seq
MIRT1402970	hsa-miR-548d-5p	CLIP-seq
MIRT1402971	hsa-miR-548h	CLIP-seq
MIRT1402972	hsa-miR-548i	CLIP-seq
MIRT1402973	hsa-miR-548j	CLIP-seq
MIRT1402974	hsa-miR-548n	CLIP-seq
MIRT1402975	hsa-miR-548w	CLIP-seq
MIRT1402976	hsa-miR-548y	CLIP-seq
MIRT1402977	hsa-miR-559	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402987	hsa-miR-3973	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402989	hsa-miR-4251	CLIP-seq
MIRT1402990	hsa-miR-4303	CLIP-seq
MIRT1402991	hsa-miR-4329	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT1403000	hsa-miR-539	CLIP-seq
MIRT1403001	hsa-miR-577	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1403004	hsa-miR-133a	CLIP-seq
MIRT1403005	hsa-miR-133b	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT1403006	hsa-miR-4726-3p	CLIP-seq
MIRT1403007	hsa-miR-545	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT1402947	hsa-miR-142-5p	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT2120796	hsa-miR-3187-3p	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT1402952	hsa-miR-340	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2120798	hsa-miR-369-3p	CLIP-seq
MIRT2120799	hsa-miR-374c	CLIP-seq
MIRT2120800	hsa-miR-3925-5p	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT2120801	hsa-miR-4435	CLIP-seq
MIRT2120802	hsa-miR-4529-5p	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2120803	hsa-miR-4666-5p	CLIP-seq
MIRT2120804	hsa-miR-4701-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2120806	hsa-miR-548s	CLIP-seq
MIRT2120807	hsa-miR-588	CLIP-seq
MIRT2120808	hsa-miR-655	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1402980	hsa-miR-106a	CLIP-seq
MIRT1402981	hsa-miR-106b	CLIP-seq
MIRT2120795	hsa-miR-1236	CLIP-seq
MIRT2342818	hsa-miR-1269	CLIP-seq
MIRT2342819	hsa-miR-1269b	CLIP-seq
MIRT2342820	hsa-miR-1270	CLIP-seq
MIRT2342821	hsa-miR-1288	CLIP-seq
MIRT2342822	hsa-miR-1324	CLIP-seq
MIRT1402982	hsa-miR-17	CLIP-seq
MIRT2342823	hsa-miR-185	CLIP-seq
MIRT2342824	hsa-miR-188-5p	CLIP-seq
MIRT2342825	hsa-miR-1912	CLIP-seq
MIRT2342826	hsa-miR-205	CLIP-seq
MIRT1402983	hsa-miR-20a	CLIP-seq
MIRT1402984	hsa-miR-20b	CLIP-seq
MIRT2342827	hsa-miR-2110	CLIP-seq
MIRT2342828	hsa-miR-219-1-3p	CLIP-seq
MIRT1402949	hsa-miR-299-3p	CLIP-seq
MIRT1402985	hsa-miR-3148	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT1402950	hsa-miR-3189-5p	CLIP-seq
MIRT2342829	hsa-miR-337-3p	CLIP-seq
MIRT1402951	hsa-miR-337-5p	CLIP-seq
MIRT2120797	hsa-miR-34c-3p	CLIP-seq
MIRT2342830	hsa-miR-3685	CLIP-seq
MIRT1402954	hsa-miR-3692	CLIP-seq
MIRT2342831	hsa-miR-377	CLIP-seq
MIRT2342832	hsa-miR-384	CLIP-seq
MIRT2342833	hsa-miR-3938	CLIP-seq
MIRT1402988	hsa-miR-3978	CLIP-seq
MIRT2342834	hsa-miR-4257	CLIP-seq
MIRT2342835	hsa-miR-4268	CLIP-seq
MIRT2342836	hsa-miR-4271	CLIP-seq
MIRT1402957	hsa-miR-4291	CLIP-seq
MIRT2342837	hsa-miR-4306	CLIP-seq
MIRT1402958	hsa-miR-4310	CLIP-seq
MIRT1402992	hsa-miR-4422	CLIP-seq
MIRT2342838	hsa-miR-4448	CLIP-seq
MIRT2342839	hsa-miR-4515	CLIP-seq
MIRT2342840	hsa-miR-4529-3p	CLIP-seq
MIRT2342841	hsa-miR-4531	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2342842	hsa-miR-4643	CLIP-seq
MIRT2342843	hsa-miR-4644	CLIP-seq
MIRT1402961	hsa-miR-4648	CLIP-seq
MIRT1402962	hsa-miR-4654	CLIP-seq
MIRT2342844	hsa-miR-4667-5p	CLIP-seq
MIRT2342845	hsa-miR-4700-5p	CLIP-seq
MIRT2342846	hsa-miR-4717-3p	CLIP-seq
MIRT2342847	hsa-miR-4725-3p	CLIP-seq
MIRT2342848	hsa-miR-4740-5p	CLIP-seq
MIRT2120805	hsa-miR-4761-5p	CLIP-seq
MIRT1402964	hsa-miR-4769-5p	CLIP-seq
MIRT2342849	hsa-miR-4802-3p	CLIP-seq
MIRT1402993	hsa-miR-502-5p	CLIP-seq
MIRT1402994	hsa-miR-519a	CLIP-seq
MIRT1402995	hsa-miR-519b-3p	CLIP-seq
MIRT1402996	hsa-miR-519c-3p	CLIP-seq
MIRT1402997	hsa-miR-519d	CLIP-seq
MIRT1402998	hsa-miR-520g	CLIP-seq
MIRT1402999	hsa-miR-520h	CLIP-seq
MIRT2342850	hsa-miR-571	CLIP-seq
MIRT2342851	hsa-miR-579	CLIP-seq
MIRT2342852	hsa-miR-620	CLIP-seq
MIRT1402978	hsa-miR-624	CLIP-seq
MIRT2342853	hsa-miR-626	CLIP-seq
MIRT2342854	hsa-miR-7	CLIP-seq
MIRT1403002	hsa-miR-93	CLIP-seq
MIRT1403003	hsa-miR-936	CLIP-seq
MIRT1402979	hsa-miR-95	CLIP-seq
MIRT1402986	hsa-miR-3189-3p	CLIP-seq
MIRT2692436	hsa-miR-124	CLIP-seq
MIRT2692437	hsa-miR-409-3p	CLIP-seq
MIRT1402960	hsa-miR-4539	CLIP-seq
MIRT2692438	hsa-miR-4749-3p	CLIP-seq
MIRT2692439	hsa-miR-506	CLIP-seq
MIRT2692440	hsa-miR-548an	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15962010, 28514442, 33961781
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	18266766, 21224894
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016491	Function	Oxidoreductase activity	TAS
GO:0018158	Process	Protein oxidation	IDA	21224894, 25931126
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	15962010
GO:0043687	Process	Post-translational protein modification	IDA	21224894, 25931126
GO:0043687	Process	Post-translational protein modification	IEA
GO:0043687	Process	Post-translational protein modification	TAS
GO:0046479	Process	Glycosphingolipid catabolic process	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0120147	Function	Formylglycine-generating oxidase activity	IBA
GO:0120147	Function	Formylglycine-generating oxidase activity	IDA	21224894, 25931126
GO:0120147	Function	Formylglycine-generating oxidase activity	IEA
GO:1903135	Function	Cupric ion binding	IDA	25931126

MIM	HGNC	e!Ensembl
607939	20376	ENSG00000144455

Q8NBK3

Protein name

Formylglycine-generating enzyme (FGE) (EC 1.8.3.7) (C-alpha-formylglycine-generating enzyme 1) (Sulfatase-modifying factor 1)

Protein function

Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126

PDB

1Y1E , 1Y1F , 1Y1G , 1Y1H , 1Y1I , 1Y1J , 1Z70 , 2AFT , 2AFY , 2AII , 2AIJ , 2AIK , 2HI8 , 2HIB , 5SSX , 5SSY , 5SSZ , 8ARU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03781	FGE-sulfatase	87 → 367	Sulfatase-modifying factor enzyme 1	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highly expressed in kidney, pancreas and liver. Detected at lower levels in leukocytes, lung, placenta, small intestine, skeletal muscle and heart. {ECO:0000269|PubMed:15962010}.

Sequence

MAAPALGLVCGRCPELGLVLLLLLLSLLCGAAGSQEAGTGAGAGSLAGSCGCGTPQRPGA
HGSSAAAHRYSREANAPGPVPGERQLAHSKMVPIPAGVFTMGTDDPQIKQDGEAPARRVT
IDAFYMDAYEVSNTEFEKFVNSTGYLTEAEKFGDSFVFEGMLSEQVKTNIQQAVAAAPWW
LPVKGANWRHPEGPDSTILHRPDHPVLHVSWNDAVAYCTWAGKRLPTEAEWEYSCRGGLH
NRLFPWGNKLQPKGQHYANIWQGEFPVTNTGEDGFQGTAPVDAFPPNGYGLYNIVGNAWE
WTSDWWTVHHSVEETLNPKGPPSGKDRVKKGGSYMCHRSYCYRYRCAARSQNTPDSSASN
LGFRCAADRLPTMD

Sequence length

374

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Glycosphingolipid metabolism The activation of arylsulfatases

722

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Multiple sulfatase deficiency	Likely pathogenic; Pathogenic	rs772711848, rs1274564118, rs2125176154, rs1215549413, rs2125035926, rs1237016251, rs1702887095, rs2125124343, rs2079966666, rs2124823079, rs1350782911, rs748169616, rs1293658639, rs2124822828, rs867197652 View all (82 more)	RCV001330572 RCV001939841 RCV001379934 RCV001378446 RCV001378911 RCV001378037 RCV001389988 RCV001390846 RCV001381953 RCV001380681 RCV001385574 RCV001785032 RCV001785033 RCV001783831 RCV001928492 RCV001941755 RCV001900448 RCV001946773 RCV002045786 RCV001930099 RCV001926368 RCV002020489 RCV001884905 RCV002000148 RCV001876317 RCV001942248 RCV001994379 RCV001906358 RCV001972381 RCV001948565 RCV001951429 RCV001951461 RCV001881074 RCV002027308 RCV002221885 RCV000002782 RCV000002783 RCV000002784 RCV000002785 RCV000002786 RCV000002787 RCV000002788 RCV000002789 RCV000002790 RCV000002791 RCV000002792 RCV000002794 RCV000002795 RCV000002796 RCV000002798 RCV003052733 RCV002599655 RCV002664291 RCV002852709 RCV002880893 RCV002881312 RCV002880441 RCV002917227 RCV002949127 RCV002994427 RCV003002423 RCV003012480 RCV000490557 RCV003498230 RCV003499920 RCV003497629 RCV003497744 RCV003497635 RCV003497647 RCV003497689 RCV003497818 RCV003498570 RCV003498683 RCV003499330 RCV003499456 RCV003606132 RCV003606355 RCV003606336 RCV003605167 RCV003606750 RCV003818869 RCV003830418 RCV003852505 RCV003990377 RCV004579627 RCV000412333 RCV000023667 RCV000578288 RCV000673785 RCV000791660 RCV000801125 RCV000814104 RCV000795547 RCV001050991 RCV001061485 RCV001193352 RCV001192683 RCV001236822 RCV001243482 RCV001880164 RCV001269103
Spinocerebellar ataxia type 15/16	Likely pathogenic; Pathogenic	rs137852847	RCV003992777
SUMF1-related disorder	Likely pathogenic	rs1349733778	RCV003898856

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial pancreatic carcinoma	Benign	rs79182633	RCV005921458
Gastric cancer	Benign	rs79182633	RCV005921460
Lung cancer	Benign	rs79182633	RCV005921461
Sarcoma	Benign; Likely benign	rs79182633, rs374945651	RCV005921459 RCV005920989
See cases	Uncertain significance	rs567209740, rs1701843859, rs1575266526	RCV002252758 RCV002252606 RCV002287774

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anorchia	Associate	25885655
Apnea	Associate	25516103
Ataxia	Associate	25222778
Autism Spectrum Disorder	Associate	23715297, 28720891
Autistic Disorder	Associate	23715297
Body Dysmorphic Disorders	Associate	32048457
Breast Neoplasms	Associate	30760814
Chondrodysplasia Punctata	Associate	29397290
Colitis Ulcerative	Associate	37904461
COVID 19	Associate	37344788
Cystic Fibrosis	Associate	30598261
Deafness	Associate	25516103
Death	Associate	37344788
Emphysema	Associate	28464818
Genetic Diseases Inborn	Associate	15708861, 18508857
Glioblastoma	Associate	36856182
Hematologic Diseases	Associate	28698656
Hypertension Pulmonary	Associate	32048457
Ichthyosis	Associate	36959582
Ichthyosis X Linked	Associate	29397290
Inflammation	Associate	37344788
Leukodystrophy Metachromatic	Associate	29397290
Lung Injury	Associate	37344788
Mental Disorders	Associate	36959582
Mucopolysaccharidoses	Associate	29397290
Mucopolysaccharidosis IV	Associate	29397290
Multiple Carboxylase Deficiency	Associate	25222778
Multiple Sclerosis	Associate	20802204
Multiple Sulfatase Deficiency Disease	Associate	15708861, 18508857, 21224894, 23321616, 25516103, 25524633, 25885655, 29972788, 32048457, 32749716, 36441600, 36789546, 36959582, 38161139
Muscle Hypotonia	Associate	25516103, 32048457
Neoplasms	Associate	30760814
Neurodegenerative Diseases	Associate	20802204
Neurologic Manifestations	Associate	23715297, 25885655
Pulmonary Disease Chronic Obstructive	Associate	28464818, 30760748
Splenomegaly	Associate	25516103
Tremor	Associate	25516103
Uniparental Disomy	Associate	21152100

SUMF1 (sulfatase modifying factor 1)