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SUMF1 sulfatase modifying factor 1 [ Homo sapiens (human) ]

Gene ID: 285362, updated on 1-Jun-2020

Summary

Official Symbol
SUMF1provided by HGNC
Official Full Name
sulfatase modifying factor 1provided by HGNC
Primary source
HGNC:HGNC:20376
See related
Ensembl:ENSG00000144455 MIM:607939
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FGE; UNQ3037; AAPA3037
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]
Expression
Ubiquitous expression in kidney (RPKM 5.9), thyroid (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See SUMF1 in Genome Data Viewer
Location:
3p26.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (4034714..4467282, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4402829..4508966, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986007 Neighboring gene leucine rich repeat neuronal 1 Neighboring gene uncharacterized LOC102723512 Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 1 Neighboring gene uncharacterized LOC107986008 Neighboring gene Sharpr-MPRA regulatory region 4455 Neighboring gene SET domain and mariner transposase fusion gene Neighboring gene mitochondrial ribosomal protein S10 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 14798 Neighboring gene ITPR1 divergent transcript Neighboring gene inositol 1,4,5-trisphosphate receptor type 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Multiple sulfatase deficiency
MedGen: C0268263 OMIM: 272200 GeneReviews: Multiple Sulfatase Deficiency
Compare labs

NHGRI GWAS Catalog

Description
Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131853, MGC150436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Formylglycine-generating oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
cupric ion binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
post-translational protein modification IDA
Inferred from Direct Assay
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein oxidation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
formylglycine-generating enzyme
Names
C-alpha-formylglycine-generating enzyme 1
FGly-generating enzyme
NP_001158146.1
NP_001158147.1
NP_877437.2
XP_011531926.1
XP_011531927.1
XP_011531928.1
XP_016861741.1
XP_016861742.1
XP_016861743.1
XP_016861744.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016225.2 RefSeqGene

    Range
    5014..111137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164674.1NP_001158146.1  formylglycine-generating enzyme isoform 2 precursor

    See identical proteins and their annotated locations for NP_001158146.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AC034191, AK302018, CA413741, DA844846
    Consensus CDS
    CCDS54548.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000373355.5, ENST00000383843.9
    Conserved Domains (2) summary
    TIGR03525
    Location:91349
    GldK; gliding motility-associated lipoprotein GldK
    pfam03781
    Location:91342
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  2. NM_001164675.1NP_001158147.1  formylglycine-generating enzyme isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AC034191, BC121123, CA413741, DA844846
    Consensus CDS
    CCDS54549.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000384977.2, ENST00000405420.2
    Conserved Domains (2) summary
    TIGR03525
    Location:91354
    GldK; gliding motility-associated lipoprotein GldK
    pfam03781
    Location:91347
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  3. NM_182760.4NP_877437.2  formylglycine-generating enzyme isoform 1 precursor

    See identical proteins and their annotated locations for NP_877437.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC034191, BC121122, CA413741
    Consensus CDS
    CCDS2564.1
    UniProtKB/Swiss-Prot
    Q8NBK3
    Related
    ENSP00000272902.5, ENST00000272902.10
    Conserved Domains (2) summary
    TIGR03525
    Location:91374
    GldK; gliding motility-associated lipoprotein GldK
    pfam03781
    Location:91367
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    4034714..4467282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006254.2XP_016861743.1  formylglycine-generating enzyme isoform X4

    Related
    ENSP00000404384.1, ENST00000448413.5
  2. XM_017006253.1XP_016861742.1  formylglycine-generating enzyme isoform X3

  3. XM_017006252.2XP_016861741.1  formylglycine-generating enzyme isoform X2

  4. XM_011533624.3XP_011531926.1  formylglycine-generating enzyme isoform X1

    Conserved Domains (3) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91347
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
    cl17169
    Location:346421
    RRM_SF; RNA recognition motif (RRM) superfamily
  5. XM_011533625.3XP_011531927.1  formylglycine-generating enzyme isoform X5

    Conserved Domains (2) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91339
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
  6. XM_017006255.2XP_016861744.1  formylglycine-generating enzyme isoform X7

  7. XM_011533626.3XP_011531928.1  formylglycine-generating enzyme isoform X6

    Conserved Domains (2) summary
    COG1262
    Location:78310
    YfmG; Formylglycine-generating enzyme, required for sulfatase activity, contains SUMF1/FGE domain [Posttranslational modification, protein turnover, chaperones]
    pfam03781
    Location:91337
    FGE-sulfatase; Sulfatase-modifying factor enzyme 1
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