Type | Description |
---|---|
Definition | arylsulfatase B |
Date | Results | Publications |
---|---|---|
2021-02-27 13:54:00 | A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism. | 32664626 |
2020-01-11 12:18:00 | Data of this study confirms the existence of mutational heterogeneity in the ARSB between Iranian patients. | 30982216 |
2019-06-22 15:01:00 | Sequencing analysis of ARSB gene revealed four pathogenic homozygote mutations, including a novel nonsense mutation c.281C>A (p.Ser94X) in 9 patients, as well as, a known nonsense mutation c.753C>G (p.Try251X) in 3 cases, and two missense mutations c.904G>A (p.Gly302Arg) and c.454C>T (p.Arg152Trp) in two cases. The type of mutations affected the severity patient's phenotypes. | 31009684 |
2019-03-16 11:49:00 | Decreased ARSB expression is associated with cystic fibrosis. | 29703589 |
2019-02-16 10:34:00 | Low ARSB expression is associated with prostate cancer. | 29794138 |
Type | IDs |
---|---|
Synonymous | ASB, G4S, MPS6 |
Gene |
UniProtKB-ID:
ARSB_HUMAN,
A0A024RAJ9_HUMAN,
A8K4A0_HUMAN
UniprotKB:
P15848,
A0A024RAJ9,
A8K4A0
UniParc:
UPI00015DA718,
UPI00000728C3,
UPI00001260A3
EMBL:
AC025755,
X72735,
CH471084,
AK290865,
X72737,
X72738,
AC114963,
X72742,
AK314903,
X72739,
BC029051,
AC020937,
AC099485,
X72736,
X72741,
J05225,
X72740,
M32373,
S57777
Ensembl:
ENSG00000113273
KO:
hsa:411
|
Nucleutide sequences |
EMBL-CDS:
AAA51784.1,
AAA51779.1,
CAA51272.1,
AAB19988.1,
BAG37417.1,
EAW95822.1,
AAH29051.1,
EAW95823.1,
EAW95821.1,
BAF83554.1
Gene_ORFName:
hCG_37743
Ensembl_TRS:
ENST00000264914,
ENST00000396151
|
Protein sequencees |
Ensembl_PRO:
ENSP00000264914,
ENSP00000379455
RefSeq:
XP_011541693.1,
XP_011541694.1,
XP_011541692.1,
XP_011541695.1,
XP_016864960.1,
NP_000037.2,
NP_942002.1
|
Others |
UniRef100:
UniRef100_P15848,
UniRef100_A8K4A0
UniRef90:
UniRef90_P15848-2,
UniRef90_P15848
UniRef50:
UniRef50_P15848-2,
UniRef50_P15848
UniGene:
Hs.149103,
Hs.604199
CCDS:
CCDS43334.1,
CCDS4043.1
|
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Refseq |
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