Immunogen sequence: VLNGNCVRIF TGHKGPIHSL TFSPNGRFLA TGATDGRVLL WDIGHGLMVG ELKGHTDTVC SLRFSRDGEI LASGSMDNTV RLWDAIKAFE DLETDDFTTA TGHINLPENS QELLLGTYMT KSTPVVHLHF TRRNLVLAAG AYSPQ; Positive Samples: Mouse brain; Cellular Location: Nucleus
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.
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Protein Aliases: TAF(II)100; TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa; TAFII-100; TAFII100; TATA box binding protein (TBP)-associated factor 2D; TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD; TATA box binding protein associated factor 5; Tbp-associated factor 5; transcription initiation factor TFIID 100 kD subunit; Transcription initiation factor TFIID 100 kDa subunit; Transcription initiation factor TFIID subunit 5
Gene Aliases: 6330528C20Rik; AV117817; TAF(II)100; TAF2D; TAF5; TAFII-100; TAFII100