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113457 TUBA3D

113457

TUBA3D

tubulin alpha 3d

protein-coding

Homo sapiens

基因描述

Type Description
Definition tubulin alpha 3d

研究结论

Date Results Publications
2019-07-06 12:59:00 TUBA3D is a new gene that causes keratoconus.The c.31 C > T (Gln11stop) and c.201insTT (Val68Leufs*2) mutations lead to TUBA3D degradation and higher matrix metalloproteinases expression in cornea fibroblasts. 29051577

名称对应

Type IDs
Synonymous H2-ALPHA, KTCN9, TUBA2
Gene
UniProtKB-ID: TBA3C_HUMAN, TBA3D_HUMAN, Q1ZYQ1_HUMAN
UniprotKB: P0DPH7, P0DPH8, Q1ZYQ1
UniParc: UPI0000027DB1, UPI000002B4E6
EMBL: AC073869, CH471075, L11645, AL139327, DQ422808, AK292253, BC011721, AF005392, BC057810
Ensembl: ENSG00000075886, ENSG00000198033
KO: hsa:7278, hsa:113457
Nucleutide sequences
EMBL-CDS: AAA35521.1, AAH11721.1, AAC39578.1, EAX08210.1, AAH57810.1, BAF84942.1, ABD72607.1, EAX08211.1
Gene_ORFName: hCG_19100
Ensembl_TRS: ENST00000618094, ENST00000400113, ENST00000321253
Protein sequencees
Ensembl_PRO: ENSP00000482878, ENSP00000382982, ENSP00000326042
RefSeq: NP_525125.2
Others
UniRef100: UniRef100_P0DPH7
UniRef90: UniRef90_P0DPH7
UniRef50: UniRef50_P0DPH7
UniGene: Hs.503749
CCDS: CCDS9284.1, CCDS33290.1

全选

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研究热度

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