例如:"NBL1", "4681", "drought"
收藏
51271 UBAP1

51271

UBAP1

ubiquitin associated protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition ubiquitin associated protein 1

研究结论

Date Results Publications
2021-01-26 11:11:00 mRNA in the fibroblasts of individuals with pathological truncating variants in UBAP1 escapes nonsense-mediated decay and thus leads to the expression of truncated proteins. In addition, concentrations of the full-length protein are reduced in comparison to those in controls. This suggests either a dominant-negative effect or haploinsufficiency. 30929741
2020-05-30 12:15:00 Our study provides genetic and biochemical evidence that mutations in UBAP1 can cause pure autosomal dominant spastic paraplegia. 31203368
2020-02-08 11:51:00 UBAP1 links endosomal trafficking to the ubiquitination machinery pathways that have been previously implicated in Hereditary Spastic Paraplegia 30929741
2020-02-08 10:59:00 The full-length UBAP1 protein is involved in endosomal dynamics in neurons, while loss of UBAP1 function may perturb endosomal fusion and sorting of ubiquitinated cargos. These effects could be more prominent in neurons, thereby giving rise to the phenotype of a neurodegenerative disease such as hereditary spastic paraplegia. 31515522
2017-07-15 12:19:00 Combined targeting of UBAP1 and toll-like receptor adaptors TIRAP and MyD88 by Pseudomonas aeruginosa PumA impedes both cytokine and toll-like receptor signalling, highlighting a novel strategy for innate immune evasion. 28483816

名称对应

Type IDs
Synonymous NAG20, UAP, UBAP, UBAP-1
Gene
UniProtKB-ID: UBAP1_HUMAN, A0A6G6AA68_HUMAN
UniprotKB: Q9NZ09, A0A6G6AA68
UniParc: UPI000046FE8B, UPI0001C2BF9D, UPI0000073E7F, UPI0001C2BF9E
EMBL: MN137233, BC098316, AL136733, BC100668, BC098141, AK223235, CR533551, MN137232, AK074969, MN137235, MN137231, CH471071, AK303711, AK295482, BC020950, AF222043, MN137236, AK074745, AK074812, AL353662, BC099726, MN137234, AK074995, AK074724
Ensembl: ENSG00000165006
KO: hsa:51271
Nucleutide sequences
EMBL-CDS: AAI00669.1, CAB66667.1, BAC11342.1, BAC11224.1, EAW58468.1, BAC11162.1, BAH12084.1, BAC11176.1, AAH98316.1, EAW58470.1, EAW58467.1, BAC11323.1, AAH99726.1, EAW58469.1, AAH20950.1, BAH14025.1, CAG38582.1, AAH98141.1, AAF37827.2, BAD96955.1, QID05733.1, QID05731.1, QID05734.1, QID05730.1, QID05735.1, QID05732.1
Gene_ORFName: NAG20
Ensembl_TRS: ENST00000625521, ENST00000379186, ENST00000359544, ENST00000297661
Protein sequencees
Ensembl_PRO: ENSP00000486574, ENSP00000352541, ENSP00000297661, ENSP00000368484
RefSeq: NP_001164672.1, XP_016870290.1, NP_001164675.1, XP_011516202.1, XP_011516200.1, NP_001164673.1, NP_001164674.1, NP_057609.2, XP_011516201.1, XP_016870291.1, XP_006716842.1
Others
UniRef100: UniRef100_Q9NZ09
UniRef90: UniRef90_Q9NZ09
UniRef50: UniRef50_Q9NZ09
UniGene: Hs.268963
CCDS: CCDS55303.1, CCDS6550.1

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