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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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人类
GALNT1 - Polypeptide N-acetylgalactosaminyltransferase 1
Alias:
GALNAC-T1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码UDP-N-乙酰-α-D-半乳糖胺:多肽N-乙酰半乳糖胺转移酶(GalNAc-T)家族的成员。GalNAc-Ts在高尔基体中启动粘液型O连接的糖基化,通过催化GalNAc转移到目标蛋白上的丝氨酸和苏氨酸残基上。它们的特征是一个N端跨膜结构域,一个干区域,一个含有GT1基序和Gal/GalNAc转移酶基序的内腔催化结构域,以及一个C端的蓖麻毒蛋白/凝集素样结构域。GalNAc-Ts具有不同的,但重叠的底物特性和表达模式。该基因衍生出的使用替代polyA信号的转录变异体已在文献中描述。[RefSeq,2008年7月提供]
Related ID:
NCBI:2589
ENSEMBL:ENSG00000141429
HGNC:4123
UNIPROT:Q10472
OMIM:602273
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
2589
13
12
130913 bp
64.22
9
--
4
7
GALNT1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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