| Type | Description |
|---|---|
| Definition | sulfatase modifying factor 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-13 13:21:00 | Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification. | 32414121 |
| 2019-12-14 11:25:00 | protein disulfide isomerase (PDI) plays a pivotal role in the recognition and quality control of Multiple sulfatase deficiency-causing FGE variants. | 29972788 |
| 2019-10-05 10:06:00 | Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder due to a deficiency in formylglycine-generating enzyme, which is encoded by the Sulfatase Modifying Factor 1 ( SUMF1) gene. | 30124108 |
| 2019-01-26 11:09:00 | Herein, in this report, it was aimed to depict two rare cases from two different families with similar gene mutations and clinical presentation, neuro-imaging, and laboratory result of MSD in Iran. | 29479672 |
| 2018-03-03 11:31:00 | We show that SUMF1 expression is affected in COPD patients compared to controls, and that SNPs in SUMF1 are associated with an increased risk of COPD. Certain COPD-associated SNPs have effects on either SUMF1 gene expression or on lung function. Collectively, this study shows that SUMF1 is associated with an increased risk of developing COPD. | 28464818 |
| Type | IDs |
|---|---|
| Synonymous | AAPA3037, FGE, UNQ3037 |
| Gene |
UniProtKB-ID:
SUMF1_HUMAN
UniprotKB:
Q8NBK3
UniParc:
UPI00000724A2,
UPI00015E084D,
UPI0000040734,
UPI00004EAD22,
UPI0000EE27DD
EMBL:
BC017005,
AK075459,
AC018822,
AC024167,
AC023483,
BC121122,
AY208752,
CH471055,
AY358092,
AC034191,
AC023484,
AY323910,
AC023480,
AB448737,
AK302018,
BC110862,
AK057983,
AC024168,
BC121123
Ensembl:
ENSG00000144455
KO:
hsa:285362
|
| Nucleutide sequences |
EMBL-CDS:
EAW63907.1,
AAQ88459.1,
AAP86217.1,
BAB71625.1,
AAI21124.1,
BAG63417.1,
AAH17005.2,
BAC11634.1,
AAI10863.1,
AAI21123.1,
BAH11168.1,
EAW63906.1,
AAO34683.1
Gene_ORFName:
UNQ3037/PRO9852,
PSEC0152
Ensembl_TRS:
ENST00000405420,
ENST00000272902,
ENST00000383843
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000272902,
ENSP00000384977,
ENSP00000373355
RefSeq:
XP_011531928.1,
NP_001158146.1,
XP_011531926.1,
XP_011531927.1,
XP_016861741.1,
XP_016861744.1,
NP_001158147.1,
NP_877437.2,
XP_016861742.1,
XP_016861743.1
|
| Others |
UniRef100:
UniRef100_Q8NBK3
UniRef90:
UniRef90_Q8NBK3
UniRef50:
UniRef50_Q8NBK3
UniGene:
Hs.350475
CCDS:
CCDS54549.1,
CCDS54548.1,
CCDS2564.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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