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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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中文
人类
CD1D - CD1d Molecule
Alias:
R3
CD1A
R3G1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个CD1家族中结构与主要组织相容性复合体(MHC)蛋白相关的不同成员,并与β2-微球蛋白形成异二聚体。CD1蛋白主要调节自我或微生物来源的主要脂质和糖脂抗原向T细胞的呈递。人类基因组包含五个在染色体1上成簇排列的CD1家族基因。CD1家族成员被认为在细胞定位和对特定脂质配体的特异性方面有所不同。这个基因编码的蛋白质通过细胞质尾部的基于酪氨酸的模序定位到晚内质网和高尔基体。已经发现这个基因有两个编码不同异型的转录变异体。[RefSeq,2016年1月提供]
Related ID:
NCBI:912
ENSEMBL:ENSG00000158473
HGNC:1637
UNIPROT:P15813
OMIM:188410
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
912
6
6
8398 bp
37.72
12
--
16
13
CD1D Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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