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201294 UNC13D

201294

UNC13D

unc-13 homolog D

protein-coding

Homo sapiens

基因描述

Type Description
Definition unc-13 homolog D

研究结论

Date Results Publications
2021-04-03 13:36:00 Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets. 32582217
2021-01-02 12:48:00 Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations. 31651726
2020-10-31 13:14:00 Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases. 31171812
2020-08-22 15:26:00 Cross-regulation of defective endolysosome trafficking and enhanced autophagy through TFEB in UNC13D deficiency. 30892133
2020-08-19 16:40:00 MUNC13-4 mutations play a role in the development of familial haemophagocytic lymphohistiocytosis subtype 3 through a defective cytotoxic pathway 15466010

名称对应

Type IDs
Synonymous FHL3, HLH3, HPLH3, Munc13-4
Gene
UniProtKB-ID: UN13D_HUMAN
UniprotKB: Q70J99
UniParc: UPI0001AE6705, UPI000015FC91, UPI0000403193
EMBL: AC087289, AJ578444, AK024474, BC067084, AK301529
Ensembl: ENSG00000092929
KO: hsa:201294
Nucleutide sequences
EMBL-CDS: CAE17516.1, BAB15764.1, AAH67084.1, BAG63031.1
Ensembl_TRS: ENST00000412096, ENST00000207549
Protein sequencees
Ensembl_PRO: ENSP00000388093, ENSP00000207549
RefSeq: NP_954712.1
Others
UniRef100: UniRef100_Q70J99
UniRef90: UniRef90_Q70J99
UniRef50: UniRef50_Q70J99
UniGene: Hs.41045
CCDS: CCDS11730.1

全选

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研究热度

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