Log In|Sign Up
中文人类
FIG4 - FIG4 Phosphoinositide 5-phosphatase
Alias:
BOP
YVS
BTOP
SAC3
ALS11
CMT4J
KIAA0274
dJ249I4.1
Favorite
这个基因编码的蛋白质属于含有SAC结构域的蛋白质基因家族。SAC结构域长约400个氨基酸，由7个保守基序组成，已被证明具有磷酸肌醇磷酸酶活性。酵母同源物Sac1p参与各种磷酸肌醇的调节，并影响各种细胞功能，如肌动蛋白细胞骨架组织、高尔基体和液泡形态的维持。膜结合磷酸肌醇作为信号分子在真核细胞中扮演囊泡运输的关键角色。这个基因的突变与Charcot-Marie-Tooth疾病，4J型有关。[由RefSeq提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FIG4 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
