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150365 MEI1

150365

MEI1

meiotic double-stranded break formation protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition meiotic double-stranded break formation protein 1

研究结论

Date Results Publications
2019-02-23 12:46:00 we report on a homozygous missense mutation in the gene coding for meiotic double-stranded break formation protein 1 observed in two brothers with non-obstructive azoospermia and meiotic arrest. A fertile brother was heterozygous for the mutation. All the queried databases predicted that this mutation is damaging, and it has previously been reported that Mei1 knock-out is associated with meiotic arrest in a murine model. 29659827
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2010-01-21 00:00:00 MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans. 16683055

名称对应

Type IDs
Synonymous SPATA38
Gene
UniProtKB-ID: MEI1_HUMAN, Q4G0I1_HUMAN
UniprotKB: Q5TIA1, Q4G0I1
UniParc: UPI000095BF60, UPI000056D4B3, UPI00006E232C, UPI000095BF5F, UPI0000071386, UPI00001D837B, UPI00001C2059, UPI000006DF11
EMBL: BC025400, AK301435, AY952377, AL021453, BC035720, AY952376, AL023879, BC070111, AK094461, BC032248, Z83840
Ensembl: ENSG00000167077
KO: hsa:150365
Nucleutide sequences
EMBL-CDS: BAC04361.1, AAH35720.1, AAY27427.1, AAY27428.1, BAH13481.1, AAH25400.1, AAH32248.1, AAH70111.1
Ensembl_TRS: ENST00000403492, ENST00000401548
Protein sequencees
Ensembl_PRO: ENSP00000385298, ENSP00000384115
RefSeq: XP_011528240.1, XP_011528252.1, XP_011528248.1, XP_011528241.1, XP_011528246.1, XP_011528251.1, XP_011528242.1, XP_011528243.1, NP_689726.3, XP_024307932.1, XP_016884122.1, XP_011528247.1, XP_011528238.1, XP_011528254.1, XP_011528244.1, XP_011528249.1, XP_011528245.1, XP_011528258.1, XP_011528239.1, XP_011528250.1, XP_011528257.1, XP_011528256.1, XP_011528237.1
Others
UniRef100: UniRef100_Q4G0I1, UniRef100_Q5TIA1
UniRef90: UniRef90_Q5TIA1, UniRef90_F6XWL0
UniRef50: UniRef50_F6XWL0, UniRef50_Q9D4I2
UniGene: Hs.116419
CCDS: CCDS46718.1

全选

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