SUMF2

SUMF2

Identifiers

SUMF2, pFGE, sulfatase modifying factor 2

External IDs

OMIM: 607940; MGI: 1915152; GeneCards: SUMF2

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
1Y4J

Gene location (Human)

Chr.	Chromosome 7 (human)

Band	7p11.2	Start	56,064,002 bp
Band	7p11.2	End	56,080,670 bp

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)

Band	5\|5 G1.3	Start	129,846,986 bp
Band	5\|5 G1.3	End	129,864,050 bp

RNA expression pattern

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

right adrenal cortex

gastric mucosa

rectum

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

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

Databases

NCBI: entry; OMA: entry

Species

Human

Mouse


25870


67902


ENSG00000129103


ENSMUSG00000025538


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

View/Edit Human

View/Edit Mouse

Sulfatase-modifying factor 2 is an enzyme that in humans is encoded by the SUMF2 gene.

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000129103 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025538 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ 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.
1 2 "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. hdl:11858/00-001M-0000-0012-E989-9. PMID 15708861.
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.

v t e PDB gallery
1y4j: Crystal structure of the paralogue of the human formylglycine generating enzyme

This article on a gene on human chromosome 7 is a stub. You can help Wikipedia by adding missing information.