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27245 AHDC1

27245

AHDC1

AT-hook DNA binding motif containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition AT-hook DNA binding motif containing 1

研究结论

Date Results Publications
2020-10-03 12:50:00 Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. 30615951
2020-07-25 11:28:00 we unveiled that LINC01133 may function as a ceRNA for miR-4784 to advance AHDC1 expression, intensifying CC cell malignant phenotypes and EMT process, which may demonstrate the implied value of LINC01133 as a therapeutic target for CC patients. 31390932
2020-04-04 12:24:00 Three rare mutations of AHDC1 in patients with OSA in Chinese Hanindividuals. 31737670
2019-05-25 12:06:00 De novo heterozygous variants in AHDC1 gene were identified in two patients with partial growth hormone deficiency. 30729726
2014-06-28 10:31:00 this study hasidentified AHDC1 de novo truncating mutations that most likely cause syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

名称对应

Type IDs
Synonymous MRD25
Gene
UniProtKB-ID: AHDC1_HUMAN
UniprotKB: Q5TGY3
UniParc: UPI0000418EA1
EMBL: BC002677, AL031729, BC014394, U79259, AK125431
Ensembl: ENSG00000126705
KO: hsa:27245
Nucleutide sequences
EMBL-CDS: AAH14394.3, AAB50205.1, BAC86163.1, AAH02677.2
Ensembl_TRS: ENST00000642245, ENST00000247087, ENST00000673934, ENST00000642416, ENST00000644989, ENST00000374011
Protein sequencees
Ensembl_PRO: ENSP00000494394, ENSP00000247087, ENSP00000363123, ENSP00000501218, ENSP00000495665, ENSP00000495072
RefSeq: XP_005245908.1, XP_024302229.1, NP_001025053.1, XP_005245909.1, XP_005245906.1, XP_011539558.1, XP_011539559.1, XP_005245907.1, XP_005245905.1, XP_011539557.1, NP_001358857.1
Others
UniRef100: UniRef100_Q5TGY3
UniRef90: UniRef90_Q5TGY3
UniRef50: UniRef50_Q5TGY3
UniGene: Hs.469280
CCDS: CCDS30652.1

全选

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