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59338 PLEKHA1

59338

PLEKHA1

pleckstrin homology domain containing A1

protein-coding

Homo sapiens

基因描述

Type Description
Definition pleckstrin homology domain containing A1

研究结论

Date Results Publications
2018-09-08 10:21:00 investigated the association of PLEKHA1 958A/G, polymorphisms with Age-Related Macular Degeneration (AMD) risk. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014) 29565837
2016-04-23 11:55:00 Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium. 26427389
2015-05-16 10:08:00 CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population. 25050486
2014-06-14 13:24:00 This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk. 24013816
2010-04-07 21:40:00 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) 19948975

名称对应

Type IDs
Synonymous TAPP1
Gene
UniProtKB-ID: PKHA1_HUMAN, Q5RGS4_HUMAN, B3KQL5_HUMAN
UniprotKB: Q9HB21, Q5RGS4, B3KQL5
UniParc: UPI00001A841E, UPI000015D928, UPI000000D9DC, UPI00003D05D2
EMBL: BX842242, CH471066, AK075159, BX664700, BC001136, AK057463, BC042458, AF286160
Ensembl: ENSG00000107679
KO: hsa:59338
Nucleutide sequences
EMBL-CDS: EAW49315.1, AAG15197.1, BAG51917.1, EAW49318.1, EAW49319.1, AAH01136.1, EAW49316.1, AAH42458.1, BAG52077.1
Ensembl_TRS: ENST00000368988, ENST00000368990, ENST00000392799, ENST00000433307, ENST00000368989
Protein sequencees
Ensembl_PRO: ENSP00000376547, ENSP00000394416, ENSP00000357984, ENSP00000357986, ENSP00000357985
RefSeq: NP_001364182.1, NP_001364180.1, XP_016871976.1, NP_001364185.1, XP_016871967.1, XP_011538321.1, XP_016871969.1, NP_001364170.1, NP_001364164.1, NP_001364174.1, XP_011538324.1, NP_001364187.1, NP_001364167.1, XP_011538319.1, XP_016871968.1, NP_001364172.1, XP_016871972.1, XP_016871979.1, NP_001364166.1, NP_001001974.1, NP_067635.2, NP_001364163.1, NP_001364175.1, NP_001364176.1, NP_001364184.1, XP_016871978.1, NP_001364178.1, NP_001364169.1, XP_016871970.1, NP_001364171.1, XP_016871973.1, NP_001364160.1, NP_001364181.1, XP_024303875.1, NP_001364179.1, XP_024303883.1, XP_024303882.1, XP_024303877.1, XP_011538323.1, XP_024303878.1, NP_001364159.1, NP_001317107.1, NP_001364177.1, XP_024303876.1, NP_001182537.1, NP_001364161.1, XP_016871971.1, XP_024303881.1, NP_001364183.1, XP_011538320.1, NP_001364173.1, XP_011538326.1, NP_001364186.1, XP_024303879.1, XP_016871975.1
Others
UniRef100: UniRef100_Q9HB21, UniRef100_Q5RGS4
UniRef90: UniRef90_Q8BUL6, UniRef90_Q9HB21
UniRef50: UniRef50_Q9HB21
UniGene: Hs.643512, Hs.738826
CCDS: CCDS55730.1, CCDS7629.1

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