1. Gene
  2. SUMF2 - sulfatase modifying factor 2 Gene

SUMF2 - sulfatase modifying factor 2 Gene

中文名称:硫酸酯酶修饰因子 2

种属: Homo sapiens

同用名: pFGE

基因 ID: 25870 | 基因类型: protein coding

关于 SUMF2

Cytogenetic location: 7p11.2 Genomic coordinates (GRCh38): 7:56,064,286-56,087,946 (from NCBI)

This gene has 23 transcripts (splice variants), 105 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 45.6), kidney (RPKM 41.8) and 25 other tissues.

功能概要

硫酸酯酶的催化位点只有在含有独特的氨基酸 C-α-甲酰甘氨酸 (FGly) 时才有活性。 FGly 残基是通过具有 FGly 生成活性的酶从半胱氨酸翻译后生成的。该记录中描述的基因是硫酸酯酶修饰因子家族的一员,编码一种具有 DUF323 结构域的蛋白质,该结构域定位于内质网腔。这种蛋白质具有低水平的 FGly 生成活性,但可以与另一个家族成员异二聚化 - 一种具有高水平 FGly 生成活性的蛋白质。已经表征了编码不同亚型的替代转录剪接变体。[RefSeq 提供,2008 年 7 月]

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. [provided by RefSeq, Jul 2008]

SUMF2 基因产物(9)

mRNA Protein Name
NM_001042468.3 NP_001035933.3 inactive C-alpha-formylglycine-generating enzyme 2 isoform a precursor
NM_001042469.3 NP_001035934.3 inactive C-alpha-formylglycine-generating enzyme 2 isoform c precursor
NM_001042470.3 NP_001035935.3 inactive C-alpha-formylglycine-generating enzyme 2 isoform d precursor
NM_001130069.4 NP_001123541.2 inactive C-alpha-formylglycine-generating enzyme 2 isoform e precursor
NM_001146333.3 NP_001139805.1 inactive C-alpha-formylglycine-generating enzyme 2 isoform g
NM_001366647.2 NP_001353576.1 inactive C-alpha-formylglycine-generating enzyme 2 isoform h precursor
NM_001366648.2 NP_001353577.1 inactive C-alpha-formylglycine-generating enzyme 2 isoform i precursor
NM_001366649.2 NP_001353578.1 inactive C-alpha-formylglycine-generating enzyme 2 isoform j
NM_015411.4 NP_056226.3 inactive C-alpha-formylglycine-generating enzyme 2 isoform b precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
15962010 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15962010 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
18266766 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SUMF2 蛋白结构

FGE-sulfatase

FGE-sulfatase: Sulfatase-modifying factor enzyme 1 (46 - 246)

  • 0
  • 100
  • 200
  • 300
  • 358 a.a.
蛋白主名 其他名称

inactive C-alpha-formylglycine-generating enzyme 2

C-alpha-formyglycine-generating enzyme 2

SUMF2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SUMF2 Q8NBJ7 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 CTSD Homo sapiens P07339
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 CTSD Homo sapiens P07339
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 CTSD Homo sapiens P07339
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 APBB2 Homo sapiens Q92870-2
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 APBB2 Homo sapiens Q92870-2
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 APBB2 Homo sapiens Q92870-2
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 ap3a_sars2 SARS-CoV-2 P0DTC3
Y2H Array
36217030
种属内
SUMF2 Q8NBJ7 IDS Homo sapiens P22304
Anti Tag CoIP
15962010
种属内
SUMF2 Q8NBJ7 SUMF1 Homo sapiens Q8NBK3
Comig Non-Denat Gel
15962010
种属内
SUMF2 Q8NBJ7 SUMF1 Homo sapiens Q8NBK3
Anti Tag CoIP
15962010
种属内
SUMF2 Q8NBJ7 HSPB1 Homo sapiens P04792
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 HSPB1 Homo sapiens P04792
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 HSPB1 Homo sapiens P04792
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 PMP22 Homo sapiens A0A6Q8PF08
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 PMP22 Homo sapiens A0A6Q8PF08
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 PMP22 Homo sapiens A0A6Q8PF08
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 TTR Homo sapiens P02766
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 TTR Homo sapiens P02766
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 TTR Homo sapiens P02766
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
SUMF2 Q8NBJ7 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
SUMF2 Q8NBJ7 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
SUMF2 Q8NBJ7 ccsb_9919 Homo sapiens EBI-25847655
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Multiple Sulfatase Deficiency

Mucosulfatidosis

MSD

Sulfatidosis, Juvenile, Austin Type

Multiple Sulfatase Deficiency Disease

Juvenile Sulfatidosis, Austin Type

Juvenile Sulfatidosis

Sulfatidosis Juvenile, Austin Type

Austin Syndrome

Sulfatidosis Juvenile Austin Type

Sulfatase Deficiency, Multiple

Phosphoserine Phosphatase Deficiency

PSPHD

Deficiency Of Phosphoserine Phosphatase

Psph Deficiency

3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form

Psph Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Phosphatase

Serine Deficiency
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus SUMF2 MGD MGI:1915152
Bos taurus SUMF2 VGNC VGNC:35472
Felis catus SUMF2 VGNC VGNC:80686
Rattus norvegicus SUMF2 RGD RGD:1563253
Macaca mulatta SUMF2 VGNC VGNC:78180
Canis familiaris SUMF2 VGNC VGNC:46983