Type | Description |
---|---|
Definition | ALMS1, centrosome and basal body associated protein |
Date | Results | Publications |
---|---|---|
2019-11-23 11:28:00 | In this study, we show that gene deletion of ALMS1 decreases NKCC2 endocytosis establishing a link between the genetic susceptibility to hypertension, CKD, and the expression of ALMS1 through its role in a salt-reabsorbing tubular segment of the kidney. These data point to ALMS1 as a potentially novel gene involved in BP and renal function regulation. | 30385718 |
Type | IDs |
---|---|
Gene | |
Nucleutide sequences | |
Protein sequencees |
RefSeq:
XP_006236803.1,
XP_017448040.1,
XP_017448039.1,
XP_017448038.1,
NP_001100074.2
|
Others |
UniGene:
Rn.206881
|
{{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.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
暂无数据
Pubmed编号 | 文献信息 | 发表日期 | 相关基因 |
---|---|---|---|
30385718 |
Role of Alström syndrome 1 in the regulation of blood pressure and renal function. JCI Insight Ankita Bachhawat Jaykumar , Paulo S Caceres , Keyona N King-Medina , Tang-Dong Liao , Indrani Datta , Dipak Maskey , Jürgen K Naggert , Mariela Mendez , William H Beierwaltes , Pablo A Ortiz |
2018-11-02 | - |
27803297 |
Clin. Sci. Laurence Poekes , Vanessa Legry , Olivier Schakman , Christine Detrembleur , Anne Bol , Yves Horsmans , Geoffrey C Farrell , Isabelle A Leclercq |
2017-02-01 | - |
24049434 |
Novel ALMS1 mutations in Chinese patients with Alström syndrome. Mol. Vis. Xiaofang Liang , Hui Li , Huajin Li , Fei Xu , Fangtian Dong , Ruifang Sui |
2013-01-01 |
Alms1,
ALMS1
|
22693585 |
PLoS ONE Gayle B Collin , Jan D Marshall , Benjamin L King , Gabriella Milan , Pietro Maffei , Daniel J Jagger , Jürgen K Naggert |
2012-01-01 |
Actn1,
Actn2,
Actn3,
Alms1,
Actn4,
ALMS1
|
22876109 |
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol. Vis. Teresa Piñeiro-Gallego , Marta Cortón , Carmen Ayuso , Montserrat Baiget , Diana Valverde |
2012-01-01 |
Alms1,
RPGRIP1L,
ALMS1
|
21873635 |
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics Pascale Gaudet , Michael S Livstone , Suzanna E Lewis , Paul D Thomas |
2011-09-01 | - |
21399614 |
EMBO J. Lis Jakobsen , Katja Vanselow , Marie Skogs , Yusuke Toyoda , Emma Lundberg , Ina Poser , Lasse G Falkenby , Martin Bennetzen , Jens Westendorf , Erich A Nigg , Mathias Uhlen , Anthony A Hyman , Jens S Andersen |
2011-04-20 |
ACTR1B,
ACTR1A,
AKAP9,
TUBGCP3,
PIBF1,
DCTN2,
DCTN6,
CETN2,
CETN3,
PLK4,
SDCCAG8,
TUBGCP2,
CNTRL,
FGFR1OP,
CEP250,
DCTN3,
TUBGCP5,
HAUS1,
CNTROB,
NEDD1,
FOPNL,
CCSAP,
SCLT1,
POC5,
DYNLL2,
CSNK1A1,
CSNK1D,
CEP128,
CKAP2L,
SPICE1,
CEP120,
SASS6,
DCTN1,
DYNC1H1,
DYNC1I2,
DYNC1LI2,
CEP112,
LRRC45,
HYLS1,
CEP162,
ANKRD26,
CEP164,
MAPRE1,
CEP131,
CEP152,
TTLL5,
RAP1GAP2,
CEP68,
FBXW11,
RPGRIP1L,
CLASP1,
HAUS5,
POC1A,
C2CD3,
NPHP4,
CKAP2,
TUBGCP4,
POC1B,
GSK3B,
NME7,
KIF2A,
CEP85L,
NEK1,
NEK2,
ODF2,
WRAP73,
PAFAH1B1,
PCM1,
DYNC1LI1,
PCNT,
DCTN4,
NIN,
PLK1,
HAUS6,
NDE1,
HAUS4,
PPP2R3C,
CEP192,
HAUS2,
CEP55,
BBS7,
HAUS7,
PRKACA,
PRKACB,
CEP72,
CDK5RAP2,
PRKAR2A,
PRKAR2B,
CENPJ,
ODF2L,
MIB1,
SLAIN2,
CLIP1,
CCDC14,
CEP85,
STIL,
MZT2A,
AURKA,
TRAF5
|
21071598 |
Hum. Mol. Genet. Daniel Jagger , Gayle Collin , John Kelly , Emily Towers , Graham Nevill , Chantal Longo-Guess , Jennifer Benson , Karin Halsey , David Dolan , Jan Marshall , Jürgen Naggert , Andrew Forge |
2011-02-01 |
Bbs4,
Alms1,
Mkks,
Alms1
|
20844083 |
Mol. Biol. Cell Victoria J Knorz , Cosma Spalluto , Mark Lessard , Tracey L Purvis , Fiona F Adigun , Gayle B Collin , Neil A Hanley , David I Wilson , Thomas Hearn |
2010-11-01 | - |
17206865 |
A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet. Guochun Li , Raquel Vega , Keats Nelms , Nicholas Gekakis , Christopher Goodnow , Peter McNamara , Hua Wu , Nancy A Hong , Richard Glynne |
2007-01-05 |
Alms1,
ALMS1
|
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