COL27A1 - collagen type XXVII alpha 1 chain-BMKCloudï½ç¾è¿å®¢äº

例如："NBL1", "4681", "drought"

收藏

85301 COL27A1

基因描述

Type	Description
Definition	collagen type XXVII alpha 1 chain

研究结论

Date	Results	Publications
2021-02-06 13:49:00	Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation.	31903681
2021-01-09 13:28:00	First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.	32360765
2020-04-18 10:23:00	two loci in or near GDF5 and COL27A1 that are associated with knee pain, were identified.	31482140
2019-04-06 10:58:00	analysis of genetic variants of COL27A1 and tenascin C in achilles tendinopathy and anterior cruciate ligament ruptures	30359423
2018-05-05 11:55:00	Our report further validates the role of COL27A1 mutations in causation of Steel syndrome.	28276056

名称对应

Type	IDs
Synonymous	STLS
Gene	UniProtKB-ID: CORA1_HUMAN UniprotKB: Q8IZC6 UniParc: UPI0000062271, UPI000049E0F1, UPI0001627799 EMBL: AY149237, AL445543, AB058773, BC080610, AL356796 Ensembl: ENSG00000196739 KO: hsa:85301
Nucleutide sequences	EMBL-CDS: AAN41263.1, BAB47499.1, AAH80610.1 Ensembl_TRS: ENST00000356083
Protein sequencees	Ensembl_PRO: ENSP00000348385 RefSeq: NP_116277.2, XP_011517447.1, XP_016870728.1, XP_006717371.1, XP_011517446.1, XP_006717373.1, XP_011517440.1, XP_011517444.1, XP_011517445.1, XP_011517442.1
Others	UniRef100: UniRef100_Q8IZC6 UniRef90: UniRef90_Q8IZC6 UniRef50: UniRef50_Q8IZC6 UniGene: Hs.494892 CCDS: CCDS6802.1

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

收藏到我的文献

全选

Pubmed编号	文献信息	发表日期	相关基因
32360765	First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. Eur J Med Genet Evie Kritioti , Athina Theodosiou , Nayia Nicolaou , Angelos Alexandrou , Ioannis Papaevripidou , Elisavet Efstathiou , Violetta Christophidou-Anastasiadou , Carolina Sismani , George A Tanteles	2020-07-01	-
31903681	Three new patients with Steel syndrome and a Puerto Rican specific COL27A1 mutation. Am J Med Genet A Louise Amlie-Wolf , Sue Moyer-Harasink , Ann-Marie Carr , Philip Giampietro , Adele Schneider , Mitchell Simon	2020-04-01	-
31343991	Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. J. Clin. Invest. Pu Wang , Feng Yan , Zhijun Li , Yanbao Yu , Scott E Parnell , Yue Xiong	2019-07-25	-
31482140	Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank. Commun Biol Weihua Meng , Mark J Adams , Colin N A Palmer , 23andMe Research Team , Jingchunzi Shi , Adam Auton , Kathleen A Ryan , Joanne M Jordan , Braxton D Mitchell , Rebecca D Jackson , Michelle S Yau , Andrew M McIntosh , Blair H Smith	2019-01-01	-
30359423	Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach. PLoS ONE Andrea Gibbon , Colleen J Saunders , Malcolm Collins , Junaid Gamieldien , Alison V September	2018-01-01	-
29150431	The E3 ubiquitin ligase APC/C^C^dh1 degrades MCPH1 after MCPH1-Î²TrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis. EMBO J Xiaoqian Liu , Wen Zong , Tangliang Li , Yujun Wang , Xingzhi Xu , Zhong-Wei Zhou , Zhao-Qi Wang	2017-12-15	-
28344315	Proteomic characterization of human multiple myeloma bone marrow extracellular matrix. Leukemia S V Glavey , A Naba , S Manier , K Clauser , S Tahri , J Park , M R Reagan , M Moschetta , Y Mishima , M Gambella , A Rocci , A Sacco , M E O'Dwyer , J M Asara , A Palumbo , A M Roccaro , R O Hynes , I M Ghobrial	2017-11-01	-
28276056	Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1. Clin. Genet. S Kotabagi , H Shah , A Shukla , K M Girisha	2017-09-01	-
28322503	A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. Am J Med Genet A Nesrin Gariballa , Afif Ben-Mahmoud , Makanko Komara , Aisha M Al-Shamsi , Anne John , Bassam R Ali , Lihadh Al-Gazali	2017-05-01	-
26235311	Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome. Sci Rep Shiguo Liu , Xiaoxia Yu , Quanchen Xu , Jiajia Cui , Mingji Yi , Xinhua Zhang , Yinlin Ge , Xu Ma	2015-08-03	-

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

© 2017 biocloud.net版权所有 ICP证：京10042835号