SUMF2

SUMF2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1Y4J
Identifiers
Aliases	SUMF2 , pFGE, sulfatase modifying factor 2
External IDs	OMIM: 607940 MGI: 1915152 HomoloGene: 41037 GeneCards: SUMF2
Gene location (Human) Chr. Chromosome 7 (human) [1] Band 7p11.2 Start 56,064,002 bp [1] End 56,080,670 bp [1]
Gene location (Mouse) Chr. Chromosome 5 (mouse) [2] Band 5|5 G1.3 Start 129,846,986 bp [2] End 129,864,050 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube stromal cell of endometrium body of pancreas gallbladder canal of the cervix islet of Langerhans pancreatic ductal cell gastric mucosa rectum right lobe of thyroid gland Top expressed in hand yolk sac external carotid artery internal carotid artery renal corpuscle cumulus cell proximal tubule neural tube medullary collecting duct condyle More reference expression data BioGPS n/a
Gene ontology Molecular function metal ion binding Cellular component endoplasmic reticulum lumen endoplasmic reticulum Biological process post-translational protein modification glycosphingolipid metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25870 67902 Ensembl ENSG00000129103 ENSMUSG00000025538 UniProt Q8NBJ7 Q8BPG6 RefSeq (mRNA) NM_001042468 NM_001042469 NM_001042470 NM_001130069 NM_001130070 NM_001146333 NM_015411 NM_001366647 NM_001366648 NM_001366649 NM_026445 RefSeq (protein) NP_001035934 NP_001035935 NP_001123541 NP_001139805 NP_056226 NP_001035933 NP_001353576 NP_001353577 NP_001353578 NP_080721 Location (UCSC) Chr 7: 56.06 – 56.08 Mb Chr 5: 129.85 – 129.86 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene. ^{[5] [6]}

The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000129103 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025538 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A (May 2003). "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases". Cell. 113 (4): 445–56. doi: 10.1016/S0092-8674(03)00348-9 . PMID   12757706. S2CID   15095377.
6. "Entrez Gene: SUMF2 sulfatase modifying factor 2".

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Dierks T, Schmidt B, Borissenko LV, et al. (2003). "Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme". Cell. 113 (4): 435–44. doi: 10.1016/S0092-8674(03)00347-7 . PMID   12757705. S2CID   11571659.
• Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7". Nature. 424 (6945): 157–64. Bibcode:2003Natur.424..157H. doi: 10.1038/nature01782 . PMID   12853948.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Landgrebe J, Dierks T, Schmidt B, von Figura K (2004). "The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes". Gene. 316: 47–56. doi:10.1016/S0378-1119(03)00746-7. PMID   14563551.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Dickmanns A, Schmidt B, Rudolph MG, et al. (2005). "Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme". J. Biol. Chem. 280 (15): 15180–7. doi: 10.1074/jbc.M414317200 . PMID   15687489.
• Mariappan M, Preusser-Kunze A, Balleininger M, et al. (2005). "Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme". J. Biol. Chem. 280 (15): 15173–9. doi: 10.1074/jbc.M413698200 . PMID   15708861.
• Zito E, Fraldi A, Pepe S, et al. (2005). "Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2". EMBO Rep. 6 (7): 655–60. doi:10.1038/sj.embor.7400454. PMC   1369113 . PMID   15962010.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi: 10.1093/dnares/12.2.117 . PMID   16303743.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.