S Wikipedije, slobodne enciklopedije
Protein 2 spermatozoidnog repa jest protein koji je kod ljudi kodiran genom SPEF2 sa hromosoma 5 .[ 5] [ 6] [ 7] [ 8]
Dužina polipeptidnog lanca je 1.822 aminokiseline , а molekulska težina 209.811 Da .[ 9]
10 20 30 40 50 MSEILCQWLN KELKVSRTVS PKSFAKAFSS GYLLGEVLHK FELQDDFSEF LDSRVSSAKL NNFSRLEPTL NLLGVQFDQN VAHGIITEKP GVATKLLYQL YIALQKKKKS GLTGVEMQTM QRLTNLRLQN MKSDTFQERL RHMIPRQTDF NLMRITYRFQ EKYKHVKEDL AHLHFEKLER FQKLKEEQRC FDIEKQYLNR RRQNEIMAKI QAAIIQIPKP ASNRTLKALE AQKMMKKKKE AEDVADEIKK FEALIKKDLQ AKESASKTSL DTAGQTTTDL LNTYSDDEYI KKIQKRLEED AFAREQREKR RRKLLMDQLI AHEAQEEAYR EEQLINRLMR QSQQERRIAV QLMHVRHEKE VLWQNRIFRE KQHEERRLKD FQDALDREAA LAKQAKIDFE EQFLKEKRFH DQIAVERAQA RYEKHYSVCA EILDQIVDLS TKVADYRMLT NNLIPYKLMH DWKELFFNAK PIYEQASVKT LPANPSREQL TELEKRDLLD TNDYEEYKNM VGEWALPEEM VDNLPPSNNC ILGHILHRLA EKSLPPRAES TTPELPSFAV KGCLLGKTLS GKTTILRSLQ KDFPIQILSI DTLVQEAIQA FHDNEKVSEV LPIQKNDEED ALPVLQEEIK ESQDPQHVFS AGPVSDEVLP ETEGETMLSA NADKTPKAEE VKSSDSFLKL TTRAQLGAKS EQLLKKGKSI PDVLLVDIIV NAINEIPVNQ DCILDGFPMT LNQAQLLEEA LTGCNRNLTE VERKKAQKST LAIDPATSKE IPLPSPAFDF VILLDVSDTS SMSRMNDIIA EELSYKTAHE DISQRVAAEN QDKDGDQNLR DQIQHRIIGF LDNWPLLEQW FSEPENILIK INAEIDKESL CEKVKEILTT EIAKKKNKVE KKLEEKEAEK KAAASLAELP LPTPPPAPPP EPEKEKEIHQ SHVASKTPTA KGKPQSEAPH GKQESLQEGK GKKGETALKR KGSPKGKSSG GKVPVKKSPA DSTDTSPVAI VPQPPKPGSE EWVYVNEPVP EEMPLFLVPY WELIENSYIN TIKTVLRHLR EDQHTVLAYL YEIRTSFQEF LKRPDHKQDF VAQWQADFNS LPDDLWDDEE TKAELHQRVN DLRDRLWDIC DARKEEAEQE RLDIINESWL QDTLGMTMNH FFSLMQAELN RFQDTKRLLQ DYYWGMESKI PVEDNKRFTR IPLVQLDSKD NSESQLRIPL VPRISISLET VTPKPKTKSV LKGKMDNSLE NVESNFEADE KLVMDTWQQA SLAVSHMVAA EIHQRLMEEE KENQPADPKE KSPQMGANKK VKKEPPKKKQ EDKKPKGKSP PMAEATPVIV TTEEIAEIKR KNELRVKIKE EHLAALQFEE IATQFRLELI KTKALALLED LVTKVVDVYK LMEKWLGERY LNEMASTEKL TDVARYHIET STKIQNELYL SQEDFFINGN IKVFPDPPPS IRPPPVEKEE DGTLTIEQLD SLRDQFLDMA PKGIIGNKAF TDILIDLVTL NLGTNNFPSN WMHLTQPELQ ELTSLLTVNS EFVDWRKFLL VTSMPWPIPL EEELLETLQK FKAVDKEQLG TITFEQYMQA GLWFTGDEDI KIPENPLEPL PFNRQEHLIE FFFRLFADYE KDPPQLDYTQ MLLYFACHPD TVEGVYRALS VAVGTHVFQQ VKASIPSAEK TSSTDAGPAE EFPEPEENAA REERKLKDDT EKREQKDEEI PENANNEKMS METLLKVFKG GSEAQDSNRF ASHLKIENIY AEGFIKTFQD LGAKNLEPIE VAVLLKHPFI QDLISNYSDY KFPDIKIILQ RSEHVQGSDG ERSPSRHTEE KK
SPEF2 ima važnu ulogu u spermatogenezi i sastavu flagela , odnosnio spermatozoidnih repova.[ 10] eksprimiran u svim trepljastim ćelijama i potreban je za funkciju cilija .[ 10] [ 11] mutacija u SPEF2 genu može uzrokovati mušku neplodnost zbog nepokretnih spermatozoida (azoospermija ).[ 10] [ 11] svinja , mutacija SPEF2 utiče na razvoj repa spermatozoida.[ 11] fenotip divovski velike glave.[ 10] iRNK i proteinski proizvodi nalaze se u zametnim i Sertolijevim ćelijama .[ 11] Golgijevom kompleksu , manheti, baznom tijelu i srednjem dijelu spermatozoidnog repa.[ 11] IFT20 u sjemenicima .[ 11]
^ a b c GRCh38: Ensembl release 89: ENSG00000152582 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000072663 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Nagase T, Kikuno R, Hattori A, Kondo Y, Okumura K, Ohara O (decembar 2000). "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro" . DNA Research . 7 (6): 347–355. doi :10.1093/dnares/7.6.347 PMID 11214970 . ^ Sironen A, Thomsen B, Andersson M, Ahola V, Vilkki J (mart 2006). "An intronic insertion in KPL2 results in aberrant splicing and causes the immotile short-tail sperm defect in the pig" . Proceedings of the National Academy of Sciences of the United States of America . 103 (13): 5006–5011. Bibcode :2006PNAS..103.5006S . doi :10.1073/pnas.0506318103 PMC 1458785 PMID 16549801 . ^ Sironen A, Vilkki J, Bendixen C, Thomsen B (oktobar 2007). "Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene". Molecular Genetics and Genomics . 278 (4): 385–391. doi :10.1007/s00438-007-0256-7 . PMID 17610085 . S2CID 6950948 . ^ "Entrez Gene: FLJ23577 KPL2 protein" .^ "UniProt, Q9C093" (jezik: engleski). Pristupljeno 20. 10. 2021 .^ a b c d Sironen A, Kotaja N, Mulhern H, Wyatt TA, Sisson JH, Pavlik JA, Miiluniemi M, Fleming MD, Lee L (oktobar 2011). "Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia" . Biology of Reproduction . 85 (4): 690–701. doi :10.1095/biolreprod.111.091132 . PMC 3184289 PMID 21715716 . ^ a b c d e f Sironen A, Hansen J, Thomsen B, Andersson M, Vilkki J, Toppari J, Kotaja N (mart 2010). "Expression of SPEF2 during mouse spermatogenesis and identification of IFT20 as an interacting protein" . Biology of Reproduction . 82 (3): 580–590. doi :10.1095/biolreprod.108.074971 PMID 19889948 .
Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (septembar 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF) . Nature . 377 (6547 Suppl): 3–174. PMID 7566098 . Maruyama K, Sugano S (januar 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene . 138 (1–2): 171–174. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (oktobar 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene . 200 (1–2): 149–156. doi :10.1016/S0378-1119(97)00411-3 . PMID 9373149 . 
