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Q9H808 Proteins with WD Repeats
Uniprot ID: Q9H808
Protein name : Transducin-like enhancer protein 6
Gene : TLE6
Protein Families : WD repeat Groucho/TLE family
Squence Length : 572
Sequence
>Q9H808 573 MTSRDQPRPKGPPKSTSPCPGISNSESSPTLNYQGILNRLKQFPRFSPHFAAELESIYYSLHKIQQDVAEHHKQIGNVLQIVESCSQLQGFQSEEVSPAEPASPGTPQQVKDKTLQESSFEDIMATRSSDWLRRPLGEDNQPETQLFWDKEPWFWHDTLTEQLWRIFAGVHDEKAKPRDRQQAPGLGQESKAPGSCDPGTDPCPEDASTPRPPEASSSPPEGSQDRNTSWGVVQEPPGRASRFLQSISWDPEDFEDAWKRPDALPGQSKRLAVPCKLEKMRILAHGELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDRFPESHLPIQTPGAFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVKEQLPCAGLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLKGYPDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQFKSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMVGQKDSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVPEMSPVTCCDVSSNNRLVVTGSGEHASVYQITY
Repeat regions
REPEAT 284 322 WD 1 REPEAT 332 372 WD 2 REPEAT 377 416 WD 3 REPEAT 419 456 WD 4 REPEAT 458 497 WD 5 REPEAT 499 538 WD 6 REPEAT 540 571 WD 7
Sequence region of repeats
284- 322 GELVLATAISSFTRHVFTCGRRGIKVWSLTGQVAEDRFP 332- 372 GAFLRTCLLSSNSRSLLTGGYNLASVSVWDLAAPSLHVKEQ 377- 416 GLNCQALDANLDANLAFASFTSGVVRIWDLRDQSVVRDLK 419- 456 PDGVKSIVVKGYNIWTGGPDACLRCWDQRTIMKPLEYQ 458- 497 KSQIMSLSHSPQEDWVLLGMANGQQWLQSTSGSQRHMVGQ 499- 538 DSVILSVKFSPFGQWWASVGMDDFLGVYSMPAGTKVFEVP 540- 571 MSPVTCCDVSSNNRLVVTGSGEHASVYQITY
Function
"As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions"
Disease
"DISEASE: Preimplantation embryonic lethality 1 (PREMBL1) [MIM:616814]: A rare cause of female primary infertility In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired Inheritance is autosomal recessive Note=The disease is caused by mutations affecting the gene represented in this entry"