例如:"NBL1", "4681", "drought"
收藏
54840 APTX

54840

APTX

aprataxin

protein-coding

Homo sapiens

基因描述

Type Description
Definition aprataxin

研究结论

Date Results Publications
2020-10-10 13:03:00 Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. 32750061
2020-03-07 11:08:00 Aprataxin (APTX) surveils LIG1 activity which suppresses mutagenic and abortive ligation at sites of oxidative DNA damage. APTX provides another tier of damaged DNA substrate discrimination by preferentially intercepting and hydrolyzing AMP-DNA intermediates that contain improper 3' termini. 31780661
2019-11-30 11:47:00 Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in APTX-deficient cells have been reported. 30986824
2019-03-30 11:48:00 These results uncover a DNA-induced fit mechanism regulating APTX active site loop conformations and assembly of a catalytically competent active center. 29934293
2018-03-03 11:19:00 we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin. 27769049

名称对应

Type IDs
Synonymous AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
Gene
UniProtKB-ID: APTX_HUMAN
UniprotKB: Q7Z2E3
UniParc: UPI00002318C5, UPI0000074008, UPI00002318C4, UPI00001606F5, UPI00001606F6, UPI00002318C1, UPI00001A9DBB, UPI0000375B76, UPI00002318C3, UPI00001606F4, UPI00001AE449, UPI00002318C2, UPI0000375B74
EMBL: AK055672, AY302070, BC001628, AY208835, AJ565851, AY208832, AY302067, AY208836, AY208831, AY208829, BC032650, AY208842, AY208840, AJ565854, AJ565852, AY302074, AY208830, AY208839, AL353717, AY302071, CH471071, AJ565855, AY040777, AY208841, AY208834, AJ575566, AJ565853, AK000164, BC104881, AY208838, AL162590, AJ565850, AY208833, AY302068, AY302072, AY208837, BX538161
Ensembl: ENSG00000137074
KO: hsa:54840
Nucleutide sequences
EMBL-CDS: AAH01628.1, AAP86332.1, EAW58531.1, CAD92459.1, AAP86322.1, AAQ74137.1, EAW58529.1, CAD92455.1, AAP86325.1, AAP86331.1, CAD92457.1, AAQ74135.1, CAD92454.1, AAP86321.1, AAQ74131.1, AAI04882.1, CAD92456.1, CAD92458.1, EAW58530.1, AAQ74133.1, AAP86326.1, EAW58534.1, EAW58532.1, AAP86329.1, AAQ74130.1, CAE01427.1, BAA90985.1, AAP86319.1, AAQ74134.1, AAP86320.1, AAP86323.1, AAP86324.1, CAD98041.1, EAW58535.1, AAH32650.1, AAP86328.1, BAG51552.1, AAP86330.1, AAK91768.1, AAP86327.1
Ensembl_TRS: ENST00000672846, ENST00000494649, ENST00000467331, ENST00000309615, ENST00000673248, ENST00000379819, ENST00000673487, ENST00000672438, ENST00000672519, ENST00000379817, ENST00000465003, ENST00000673416, ENST00000436040, ENST00000479656, ENST00000672535, ENST00000464632, ENST00000379825, ENST00000482687, ENST00000460940, ENST00000476858, ENST00000673598, ENST00000468275, ENST00000485479, ENST00000463596
Protein sequencees
Ensembl_PRO: ENSP00000400806, ENSP00000418311, ENSP00000417634, ENSP00000500738, ENSP00000419430, ENSP00000418144, ENSP00000369147, ENSP00000311547, ENSP00000418069, ENSP00000419289, ENSP00000419846, ENSP00000420071, ENSP00000369145, ENSP00000418733, ENSP00000419042, ENSP00000420263, ENSP00000500320, ENSP00000499997, ENSP00000500601, ENSP00000500943, ENSP00000369153, ENSP00000500396, ENSP00000499872, ENSP00000499991
RefSeq: NP_001355934.1, NP_001355924.1, XP_024303346.1, NP_001355927.1, NP_001357599.1, NP_001357602.1, NP_001355933.1, XP_016870321.1, NP_001355929.1, NP_001182177.2, NP_001182179.2, NP_001355926.1, XP_016870322.1, XP_016870320.1, NP_001355935.1, NP_001355928.1, NP_001355930.1, NP_778239.2, NP_001355925.1, NP_001182181.2, NP_001182178.1, NP_001355932.1, NP_001355931.1, NP_001182180.1, XP_016870325.1, NP_778243.1, XP_011516240.1, NP_001357598.1, NP_001182183.1
Others
UniRef100: UniRef100_Q7Z2E3
UniRef90: UniRef90_Q7Z2E3
UniRef50: UniRef50_Q7Z2E3
UniGene: Hs.20158
CCDS: CCDS56568.1, CCDS6532.1, CCDS75827.1, CCDS47956.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员