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55129 ANO10

55129

ANO10

anoctamin 10

protein-coding

Homo sapiens

基因描述

Type Description
Definition anoctamin 10

研究结论

Date Results Publications
2020-09-05 13:59:00 TMEM16K is an interorganelle regulator of endosomal sorting. 32620747
2020-05-16 11:58:00 Cognitive impairment seems to be a characteristic of the SCAR10 produced by an ANO10 gene mutation, with a range from mild impairment, especially involving prefrontal systems, to a severe cognitive impairment suggesting widespread cerebral involvement. 31423897
2020-01-04 11:31:00 Data show that transmembrane protein 16K (TMEM16K) is an endoplasmic reticulum (ER)-resident lipid scramblase with a requirement for short chain lipids and calcium for robust activity. 31477691
2019-06-01 10:49:00 ANO10 mutations cause recessive ataxias. 30515630
2018-06-23 10:34:00 This study describe 2 Romani families from Serbia presenting with seemingly dominant (multiple affected individuals in successive generations) cerebellar ataxia, both harboring the same homozygous (recessive) mutation in ANO10, identified by whole-exome sequencing. 27787937

名称对应

Type IDs
Synonymous SCAR10, TMEM16K
Gene
UniProtKB-ID: ANO10_HUMAN, A0A024R2S0_HUMAN
UniprotKB: Q9NW15, A0A024R2S0
UniParc: UPI0000EE2984, UPI0001D3B98A, UPI000020A59F, UPI0001AE75CF, UPI000020A59A
EMBL: AK292368, AC097638, CH471055, BC038855, AC105903, AC135852, AC104184, AK295969, AK297949, AK001237, AK131223, AK096302
Ensembl: ENSG00000160746
KO: hsa:55129
Nucleutide sequences
EMBL-CDS: BAG58745.1, BAG60264.1, EAW64697.1, BAF85057.1, BAG54755.1, EAW64696.1, BAA91573.1, BAG53253.1, EAW64698.1
Gene_ORFName: hCG_1818869
Ensembl_TRS: ENST00000451430, ENST00000350459, ENST00000414522, ENST00000396091, ENST00000292246
Protein sequencees
Ensembl_PRO: ENSP00000379398, ENSP00000394119, ENSP00000396990, ENSP00000327767, ENSP00000292246
RefSeq: XP_016862207.1, NP_001333396.1, XP_024309385.1, NP_001333398.1, XP_016862206.1, NP_001333397.1, NP_001333393.1, XP_011532187.2, XP_016862208.1, XP_011532192.1, NP_001333392.1, NP_001333395.1, NP_001333394.1, XP_024309384.1, NP_001191762.1, NP_001191763.1, NP_001191760.1, NP_060545.3, XP_011532191.1, NP_001191761.1
Others
UniRef100: UniRef100_Q9NW15
UniRef90: UniRef90_Q9NW15
UniRef50: UniRef50_Q9NW15
UniGene: Hs.656657
CCDS: CCDS2710.2, CCDS56249.1, CCDS56247.1, CCDS56248.1, CCDS56250.1

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