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55605 KIF21A

55605

KIF21A

kinesin family member 21A

protein-coding

Homo sapiens

基因描述

Type Description
Definition kinesin family member 21A

研究结论

Date Results Publications
2021-04-13 10:10:00 Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles. 31541710
2020-08-29 12:47:00 Prognostic value of Kinesin-4 family genes mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy. 31489986
2018-12-01 11:38:00 Several key residues (i.e. Thr-1147, Leu-1152, Leu-1153, and Tyr-1154) at the C-terminal half of the KIF21A KBD peptide contact with the hydrophobic patch formed by Tyr-1176, Met-1209, Leu-1210, Leu-1213, and Leu-1248 from KANK1. 29158259
2017-09-30 11:12:00 We describe a recurrent (c.2860C>T) missense KIF21A mutation identified in a Chinese family with CFEOM1 (congenital fibrosis of the extraocular muscles type 1) phenotypes. 28930843
2017-04-08 10:52:00 A heterozygous mutation, c.2860C>T (p.R954W), in KIF21A was identified in two families with congenital fibrosis of the extraocular muscles type 1 and 3, and this was cosegregated with the presence of the diseases in the two families, however, it was absent in the 200 normal control subjects. 27513105

名称对应

Type IDs
Synonymous CFEOM1, FEOM1, FEOM3A
Gene
UniProtKB-ID: KI21A_HUMAN
UniprotKB: Q7Z4S6
UniParc: UPI00003BF736, UPI0000212ED9, UPI0000198202, UPI00003BF735, UPI0001CB3C32, UPI0001CB3C31
EMBL: AY368076, BC041430, AB290166, AF155117, BC047572, AK000059, AC084373, AC121334, CH471111, AB051495, AC090668, AF450487, BC136414, BX537855, AM177179
Ensembl: ENSG00000139116
KO: hsa:55605
Nucleutide sequences
EMBL-CDS: AAP97680.1, BAB21799.2, AAH41430.1, AAI36415.1, BAA90916.1, AAR04774.1, CAD97863.1, AAD42883.1, EAW57803.1, CAJ45483.1, BAG06720.1, AAH47572.1
Ensembl_TRS: ENST00000541463, ENST00000361418, ENST00000544797, ENST00000361961
Protein sequencees
Ensembl_PRO: ENSP00000438075, ENSP00000445606, ENSP00000354878, ENSP00000354851
RefSeq: XP_011536858.1, NP_001365369.1, XP_005269068.1, XP_006719557.1, NP_001166934.1, XP_005269069.1, NP_001365370.1, NP_001365368.1, XP_016875098.1, XP_016875099.1, XP_016875097.1, XP_006719556.1, NP_060111.2, XP_016875100.1, XP_005269071.1, XP_005269066.1, NP_001166936.1, XP_005269070.1, NP_001166935.1, XP_016875096.1
Others
UniRef100: UniRef100_Q7Z4S6
UniRef90: UniRef90_Q7Z4S6
UniRef50: UniRef50_Q7Z4S6
UniGene: Hs.374201
CCDS: CCDS53776.1, CCDS53775.1, CCDS31773.1, CCDS53774.1

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