Protein 2 spermatozoidnog repa jest protein koji je kod ljudi kodiran genom SPEF2 sa hromosoma 5.[5][6][7][8]

SPEF2
Identifikatori
AliasiSPEF2
Vanjski ID-jeviOMIM: 610172 MGI: 2443727 HomoloGene: 23371 GeneCards: SPEF2
Lokacija gena (čovjek)
Hromosom 5 (čovjek)
Hrom.Hromosom 5 (čovjek)[1]
Hromosom 5 (čovjek)
Genomska lokacija za SPEF2
Genomska lokacija za SPEF2
Bend5p13.2Početak35,617,844 bp[1]
Kraj35,814,611 bp[1]
Lokacija gena (miš)
Hromosom 15 (miš)
Hrom.Hromosom 15 (miš)[2]
Hromosom 15 (miš)
Genomska lokacija za SPEF2
Genomska lokacija za SPEF2
Bend15|15 A1Početak9,578,279 bp[2]
Kraj9,748,954 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_024867
NM_144722

NM_177123
NM_001305042
NM_001305044

RefSeq (bjelančevina)

NP_079143
NP_653323

NP_001291971
NP_001291973
NP_796097

Lokacija (UCSC)Chr 5: 35.62 – 35.81 MbChr 15: 9.58 – 9.75 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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Dužina polipeptidnog lanca je 1.822 aminokiseline, а molekulska težina 209.811 Da.[9]

1020304050
MSEILCQWLNKELKVSRTVSPKSFAKAFSSGYLLGEVLHKFELQDDFSEF
LDSRVSSAKLNNFSRLEPTLNLLGVQFDQNVAHGIITEKPGVATKLLYQL
YIALQKKKKSGLTGVEMQTMQRLTNLRLQNMKSDTFQERLRHMIPRQTDF
NLMRITYRFQEKYKHVKEDLAHLHFEKLERFQKLKEEQRCFDIEKQYLNR
RRQNEIMAKIQAAIIQIPKPASNRTLKALEAQKMMKKKKEAEDVADEIKK
FEALIKKDLQAKESASKTSLDTAGQTTTDLLNTYSDDEYIKKIQKRLEED
AFAREQREKRRRKLLMDQLIAHEAQEEAYREEQLINRLMRQSQQERRIAV
QLMHVRHEKEVLWQNRIFREKQHEERRLKDFQDALDREAALAKQAKIDFE
EQFLKEKRFHDQIAVERAQARYEKHYSVCAEILDQIVDLSTKVADYRMLT
NNLIPYKLMHDWKELFFNAKPIYEQASVKTLPANPSREQLTELEKRDLLD
TNDYEEYKNMVGEWALPEEMVDNLPPSNNCILGHILHRLAEKSLPPRAES
TTPELPSFAVKGCLLGKTLSGKTTILRSLQKDFPIQILSIDTLVQEAIQA
FHDNEKVSEVLPIQKNDEEDALPVLQEEIKESQDPQHVFSAGPVSDEVLP
ETEGETMLSANADKTPKAEEVKSSDSFLKLTTRAQLGAKSEQLLKKGKSI
PDVLLVDIIVNAINEIPVNQDCILDGFPMTLNQAQLLEEALTGCNRNLTE
VERKKAQKSTLAIDPATSKEIPLPSPAFDFVILLDVSDTSSMSRMNDIIA
EELSYKTAHEDISQRVAAENQDKDGDQNLRDQIQHRIIGFLDNWPLLEQW
FSEPENILIKINAEIDKESLCEKVKEILTTEIAKKKNKVEKKLEEKEAEK
KAAASLAELPLPTPPPAPPPEPEKEKEIHQSHVASKTPTAKGKPQSEAPH
GKQESLQEGKGKKGETALKRKGSPKGKSSGGKVPVKKSPADSTDTSPVAI
VPQPPKPGSEEWVYVNEPVPEEMPLFLVPYWELIENSYINTIKTVLRHLR
EDQHTVLAYLYEIRTSFQEFLKRPDHKQDFVAQWQADFNSLPDDLWDDEE
TKAELHQRVNDLRDRLWDICDARKEEAEQERLDIINESWLQDTLGMTMNH
FFSLMQAELNRFQDTKRLLQDYYWGMESKIPVEDNKRFTRIPLVQLDSKD
NSESQLRIPLVPRISISLETVTPKPKTKSVLKGKMDNSLENVESNFEADE
KLVMDTWQQASLAVSHMVAAEIHQRLMEEEKENQPADPKEKSPQMGANKK
VKKEPPKKKQEDKKPKGKSPPMAEATPVIVTTEEIAEIKRKNELRVKIKE
EHLAALQFEEIATQFRLELIKTKALALLEDLVTKVVDVYKLMEKWLGERY
LNEMASTEKLTDVARYHIETSTKIQNELYLSQEDFFINGNIKVFPDPPPS
IRPPPVEKEEDGTLTIEQLDSLRDQFLDMAPKGIIGNKAFTDILIDLVTL
NLGTNNFPSNWMHLTQPELQELTSLLTVNSEFVDWRKFLLVTSMPWPIPL
EEELLETLQKFKAVDKEQLGTITFEQYMQAGLWFTGDEDIKIPENPLEPL
PFNRQEHLIEFFFRLFADYEKDPPQLDYTQMLLYFACHPDTVEGVYRALS
VAVGTHVFQQVKASIPSAEKTSSTDAGPAEEFPEPEENAAREERKLKDDT
EKREQKDEEIPENANNEKMSMETLLKVFKGGSEAQDSNRFASHLKIENIY
AEGFIKTFQDLGAKNLEPIEVAVLLKHPFIQDLISNYSDYKFPDIKIILQ
RSEHVQGSDGERSPSRHTEEKK

Funkcija

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SPEF2 ima važnu ulogu u spermatogenezi i sastavu flagela, odnosnio spermatozoidnih repova.[10] SPEF2 je eksprimiran u svim trepljastim ćelijama i potreban je za funkciju cilija.[10][11] Sperma sadrže cilije/repova, a mutacija u SPEF2 genu može uzrokovati mušku neplodnost zbog nepokretnih spermatozoida (azoospermija).[10][11] U životinjskom modelu svinja, mutacija SPEF2 utiče na razvoj repa spermatozoida.[11] A gubitak funkcionalne mutacije u SPEF2 kod miševa uzrokuje fenotip divovski velike glave.[10] SPEF2-ova iRNK i proteinski proizvodi nalaze se u zametnim i Sertolijevim ćelijama.[11] Unutar ovih ćelija, SPEF2 nalazi se u Golgijevom kompleksu, manheti, baznom tijelu i srednjem dijelu spermatozoidnog repa.[11] SPEF2 je u interakciji s unutarćelijskim transportnim proteinom IFT20 u sjemenicima.[11]

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000152582 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000072663 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ "Entrez Gene: FLJ23577 KPL2 protein".
  9. ^ "UniProt, Q9C093" (jezik: engleski). Pristupljeno 20. 10. 2021.
  10. ^ 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.
  11. ^ 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.

Dopunska literatura

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