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mutLBSgeneDB |
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| Gene summary for SUMF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SUMF1 |
| Gene name | sulfatase modifying factor 1 | |
| Synonyms | AAPA3037|FGE | |
| Cytomap | UCSC genome browser: 3p26.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164674.1, NM_001164675.1,NM_182760.3, | |
| Description | C-alpha-formylglycine-generating enzyme 1FGly-generating enzymesulfatase-modifying factor 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607939 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000144455 | ||
| HPRD : 06399 | ||
| Vega : OTTHUMG00000090269 | ||
| Protein | UniProt: Q8NBK3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SUMF1 | |
| BioGPS: 285362 | ||
| Pathway | NCI Pathway Interaction Database: SUMF1 | |
| KEGG: SUMF1 | ||
| REACTOME: SUMF1 | ||
| Pathway Commons: SUMF1 | ||
| Context | iHOP: SUMF1 | |
| ligand binding site mutation search in PubMed: SUMF1 | ||
| UCL Cancer Institute: SUMF1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for SUMF1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A298 | A298T | STAD | 2 | H200 | H200Y | COAD | 1 | W179 | P178L | HNSC | 1 | Y340 | R338M | LUAD | 1 | R242 | L243V | LUAD | 1 | D368 | R369H | UCEC | 1 | D154 | D154N | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for SUMF1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R242 | L243V | -1.4711576 | D154 | D154N | -1.1544817 | D368 | R369H | -0.77024137 | H200 | H200Y | -0.65358359 | A298 | A298T | -0.5808204 | Y340 | R338M | -0.11548546 | W179 | P178L | -0.094258513 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SUMF1 from PDB |
| PDB ID | PDB title | PDB structure | 1Y1E | human formylglycine generating enzyme |  |
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| Differential gene expression and gene-gene network for SUMF1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SUMF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0268263 | Multiple Sulfatase Deficiency Disease | 9 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SUMF1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SUMF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1y1e | X | A298 | CA | CALCIUM(2+) | 1y1f | X | A298 | CA | CALCIUM(2+) | 1y1g | X | A298 | CA | CALCIUM(2+) | 1y1i | X | A298 | CA | CALCIUM(2+) | 1y1j | X | A298 | CA | CALCIUM(2+) | 2aft | X | A298 | CA | CALCIUM(2+) | 2afy | X | A298 | CA | CALCIUM(2+) | 2aii | X | A298 | CA | CALCIUM(2+) | 2aij | X | A298 | CA | CALCIUM(2+) | 2aik | X | A298 | CA | CALCIUM(2+) | 2hi8 | X | A298 | CA | CALCIUM(2+) | 2hib | X | A298 | III | Peptide ligand (CYS,THR,PRO,SER,ARG) | 2aij | X | D154 | III | Peptide ligand (CYS,THR,PRO,SER,ARG) | 2hi8 | X | D154 | III | Peptide ligand (LEU,CYS,THR,PRO,SER,ARG) | 2aik | X | D154 Y340 | BR | BROMIDE | 2hi8 | X | D368 | IOD | IODIDE | 2hib | X | D368 | BR | BROMIDE | 2hi8 | X | H200 | BR | BROMIDE | 2hi8 | X | R242 | IOD | IODIDE | 2hib | X | R242 | IOD | IODIDE | 2hib | X | W179 Y340 | IOD | IODIDE | 2hib | X | Y340 |
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| Conservation information for LBS of SUMF1 |
| Multiple alignments for Q8NBK3 in multiple species |
| LBS | AA sequence | # species | Species | A176 | QQAVAAAPWWL | 2 | Homo sapiens, Bos taurus | A176 | HQAVAAAPWWL | 1 | Mus musculus | A298 | NIVGNAWEWTS | 2 | Homo sapiens, Bos taurus | A298 | NIVGNVWEWTS | 1 | Mus musculus | A358 | TPDSSASNLGF | 3 | Homo sapiens, Mus musculus, Bos taurus | A367 | GFRCAADHLPT | 2 | Mus musculus, Bos taurus | A367 | GFRCAADRLPT | 1 | Homo sapiens | C341 | CHKSYCYRYRC | 2 | Mus musculus, Bos taurus | C341 | CHRSYCYRYRC | 1 | Homo sapiens | D154 | AEKFGDSFVFE | 3 | Homo sapiens, Mus musculus, Bos taurus | D273 | TNTGEDGFQGT | 1 | Homo sapiens | D273 | SNTGEDGFQGT | 1 | Mus musculus | D273 | TNTGEDGFRGT | 1 | Bos taurus | D355 | SQNTPDSSASN | 3 | Homo sapiens, Mus musculus, Bos taurus | D368 | FRCAADRLPTM | 1 | Homo sapiens | D368 | FRCAADHLPTA | 1 | Mus musculus | D368 | FRCAADHLPTT | 1 | Bos taurus | E130 | YMDAYEVSNTE | 1 | Homo sapiens | E130 | YMDAYEVSNAD | 1 | Mus musculus | E130 | YMDAYEVSNAE | 1 | Bos taurus | E300 | VGNAWEWTSDW | 2 | Homo sapiens, Bos taurus | E300 | VGNVWEWTSDW | 1 | Mus musculus | F152 | TEAEKFGDSFV | 3 | Homo sapiens, Mus musculus, Bos taurus | F156 | KFGDSFVFEGM | 3 | Homo sapiens, Mus musculus, Bos taurus | F158 | GDSFVFEGMLS | 3 | Homo sapiens, Mus musculus, Bos taurus | F275 | TGEDGFQGTAP | 2 | Homo sapiens, Mus musculus | F275 | TGEDGFRGTAP | 1 | Bos taurus | G247 | RLFPWGNKLQP | 3 | Homo sapiens, Mus musculus, Bos taurus | G296 | LYNIVGNAWEW | 2 | Homo sapiens, Bos taurus | G296 | LYNIVGNVWEW | 1 | Mus musculus | H200 | DSTILHRPDHP | 1 | Homo sapiens | H200 | DSSILHRSNHP | 1 | Mus musculus | H200 | DSTVLHRPDHP | 1 | Bos taurus | I260 | QHYANIWQGEF | 2 | Homo sapiens, Bos taurus | I260 | QHYANIWQGKF | 1 | Mus musculus | I294 | YGLYNIVGNAW | 2 | Homo sapiens, Bos taurus | I294 | YGLYNIVGNVW | 1 | Mus musculus | K249 | FPWGNKLQPKG | 3 | Homo sapiens, Mus musculus, Bos taurus | K253 | NKLQPKGQHYA | 3 | Homo sapiens, Mus musculus, Bos taurus | K329 | GKDRVKKGGSY | 3 | Homo sapiens, Mus musculus, Bos taurus | L225 | WAGKRLPTEAE | 3 | Homo sapiens, Mus musculus, Bos taurus | N241 | RGGLQNRLFPW | 2 | Mus musculus, Bos taurus | N241 | RGGLHNRLFPW | 1 | Homo sapiens | N248 | LFPWGNKLQPK | 3 | Homo sapiens, Mus musculus, Bos taurus | N259 | GQHYANIWQGE | 2 | Homo sapiens, Bos taurus | N259 | GQHYANIWQGK | 1 | Mus musculus | N269 | EFPVTNTGEDG | 2 | Homo sapiens, Bos taurus | N269 | KFPVSNTGEDG | 1 | Mus musculus | N293 | GYGLYNIVGNA | 2 | Homo sapiens, Bos taurus | N293 | GYGLYNIVGNV | 1 | Mus musculus | N352 | AARSQNTPDSS | 3 | Homo sapiens, Mus musculus, Bos taurus | N360 | DSSASNLGFRC | 3 | Homo sapiens, Mus musculus, Bos taurus | P252 | GNKLQPKGQHY | 3 | Homo sapiens, Mus musculus, Bos taurus | Q262 | YANIWQGEFPV | 2 | Homo sapiens, Bos taurus | Q262 | YANIWQGKFPV | 1 | Mus musculus | Q276 | GEDGFQGTAPV | 2 | Homo sapiens, Mus musculus | Q276 | GEDGFRGTAPV | 1 | Bos taurus | R201 | STILHRPDHPV | 1 | Homo sapiens | R201 | SSILHRSNHPV | 1 | Mus musculus | R201 | STVLHRPDHPV | 1 | Bos taurus | R224 | TWAGKRLPTEA | 3 | Homo sapiens, Mus musculus, Bos taurus | R236 | WEYSCRGGLQN | 2 | Mus musculus, Bos taurus | R236 | WEYSCRGGLHN | 1 | Homo sapiens | R242 | GGLQNRLFPWG | 2 | Mus musculus, Bos taurus | R242 | GGLHNRLFPWG | 1 | Homo sapiens | R343 | KSYCYRYRCAA | 2 | Mus musculus, Bos taurus | R343 | RSYCYRYRCAA | 1 | Homo sapiens | S196 | PEGPDSTILHR | 1 | Homo sapiens | S196 | PEGPDSSILHR | 1 | Mus musculus | S196 | PEGPDSTVLHR | 1 | Bos taurus | S356 | QNTPDSSASNL | 3 | Homo sapiens, Mus musculus, Bos taurus | S357 | NTPDSSASNLG | 3 | Homo sapiens, Mus musculus, Bos taurus | T103 | VFTMGTDDPQI | 3 | Homo sapiens, Mus musculus, Bos taurus | T197 | EGPDSTILHRP | 1 | Homo sapiens | T197 | EGPDSSILHRS | 1 | Mus musculus | T197 | EGPDSTVLHRP | 1 | Bos taurus | T353 | ARSQNTPDSSA | 3 | Homo sapiens, Mus musculus, Bos taurus | V215 | SWNDAVAYCTW | 3 | Homo sapiens, Mus musculus, Bos taurus | W179 | VAAAPWWLPVK | 3 | Homo sapiens, Mus musculus, Bos taurus | W180 | AAAPWWLPVKG | 3 | Homo sapiens, Mus musculus, Bos taurus | W261 | HYANIWQGEFP | 2 | Homo sapiens, Bos taurus | W261 | HYANIWQGKFP | 1 | Mus musculus | W299 | IVGNAWEWTSD | 2 | Homo sapiens, Bos taurus | W299 | IVGNVWEWTSD | 1 | Mus musculus | Y340 | MCHKSYCYRYR | 2 | Mus musculus, Bos taurus | Y340 | MCHRSYCYRYR | 1 | Homo sapiens |
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