SPEF1

SPEF1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2EE7
Identifikatori
Aliasi	SPEF1
Vanjski ID-jevi	OMIM: 610674 MGI: 3513546 HomoloGene: 15741 GeneCards: SPEF1
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	3,781,448 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	131,029,202 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • microtubule binding; • molekularna funkcija;
Ćelijska komponenta	• citoplazma; • GO:0035085 Aksonema; • projekcija ćelije; • motile cilium; • Treplja; • citoskelet; • ćelijska komponenta;
Biološki proces	• negative regulation of microtubule depolymerization; • Ćelijska migracija; • GO:0022610 biološki proces; • cilium-dependent cell motility; • regulation of cytoskeleton organization;
	Izvori:Amigo / QuickGO
Ortolozi
	25876
	70997
	ENSG00000101222
	ENSMUSG00000027329
	Q9Y4P9
	Q99JL1
	NM_015417
	NM_027641
	NP_056232
	NP_081917
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 1 spermatozoidnog biča jest protein koji je kod ljudi kodiran genom SPEF1.^[5]^[6]

Kloniranje i ekspresija

Traženjem gena eksprimiranih u cDNK biblioteci mišjeg Cortijevog organa, nakon čega slijede analiza baze podataka i PCR, Dougherty et al. (2005) klonirani miša C20orf28, kojeg su nazvali Stezaljka. Mišji protein sa 234 aminokiseline ima predviđenu molekulsku masu od 27 kD. Analiza baze podataka identificirala je ljudski homolog C20ORF28 kao protein od 236 aminokiselina s predviđenom molekulskom masom od 18,4 kD. Ljudski i mišji CLAMP imaju N-terminalni domen sličan domenu homologije (CHN1; 600806) kalponina (vidi CNN1; 600806) i C-terminalni zavojni domen, a dijele 88% aminokiselinskog identiteta.

Northern blot analizom otkriven je transkript miša od 1,6 kb s najvećom ekspresijom u testisu, zatim mozgu, bubrezima i plućima, te transkript miša od 2,2 kb samo u testisu. Western blot analizom otkriven je protein Clamp u pacovskom mozgu, plućima i testisima. Imunofluorescencija mišje pužnjače cijelog nosača i imunozlata, elektronskom mikroskopijom lokalizirali su stezaljku miša kroz snopove mikrotubula u cilindričnim ćelijama. Modeliranje strukturne homologije pokazalo je sličnost između predviđene trodimenzijske strukture stezaljke i proteina EB1 (MAPRE1; 603108) i EB3 (MAPRE3; 605788) koji se vežu na kraju mikrotubula.

Funkcija gena

Koristeći studije imunofluorescencije mišje stezaljke eksprimirane u COS-7 ćelijama, Dougherty et al. (2005) pokazali su da transficirane ćelije sadrže snopove mikrotubula sa zakrivljenošću i dezorganizacijom što upućuje na snop mikrotubula i održavaju snop mikrotubula otpornim na depolimerizaciju nokododazolom i niskom temperaturom. Koristeći mutant muške stezaljke, pokazali su da je N-terminalni CH domen kolokaliziran mikrotubulama, dok je za snop mikrotubula potrebna C-terminalni spiralni domen.^[7]

Aminokiselinska sekvenca

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
MASSVDEEAL	HQLYLWVDNI	PLSRPKRNLS	RDFSDGVLVA	EVIKFYFPKM
VEMHNYVPAN	SLQQKLSNWG	HLNRKVLKRL	NFSVPDDVMR	KIAQCAPGVV
ELVLIPLRQR	LEERQRRRKQ	GAGSLQELAP	QDGSGYMDVG	VSQKARGEGV
PDPQGGGQLS	WDRPPAPRPP	AYNRALQGDP	SFVLQIAEKE	QELLASQETV
QVLQMKVRRL	EHLLQLKNVR	IEDLSRRLQQ	AERKQR

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101222 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027329 - 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.
^ Chan SW, Fowler KJ, Choo KH, Kalitsis P (Jul 2005). "Spef1, a conserved novel testis protein found in mouse sperm flagella". Gene. 353 (2): 189–99. doi:10.1016/j.gene.2005.04.025. PMID 15979255.
^ "Entrez Gene: C20orf28 chromosome 20 open reading frame 28".
^ Dougherty, G. W., Adler, H. J., Rzadzinska, A., Gimona, M., Tomita, Y., Lattig, M. C., Merritt, R. C., Jr., Kachar, B. CLAMP, a novel microtubule-associated protein with EB-type calponin homology. Cell Motil. Cytoskeleton 62: 141-156, 2005. Note: Erratum: Cell Motil. Cytoskeleton 62: 259 only, 2005. [PubMed]: 16206169.

Dopunska literatura

Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Dougherty GW, Adler HJ, Rzadzinska A, et al. (2006). "CLAMP, a novel microtubule-associated protein with EB-type calponin homology". Cell Motil. Cytoskeleton. 62 (3): 141–56. doi:10.1002/cm.20093. PMID 16206169.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101222 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027329 - 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.

[pmid15979255-5] Chan SW, Fowler KJ, Choo KH, Kalitsis P (Jul 2005). "Spef1, a conserved novel testis protein found in mouse sperm flagella". Gene. 353 (2): 189–99. doi:10.1016/j.gene.2005.04.025. PMID 15979255.

[entrez-6] "Entrez Gene: C20orf28 chromosome 20 open reading frame 28".

[7] Dougherty, G. W., Adler, H. J., Rzadzinska, A., Gimona, M., Tomita, Y., Lattig, M. C., Merritt, R. C., Jr., Kachar, B. CLAMP, a novel microtubule-associated protein with EB-type calponin homology. Cell Motil. Cytoskeleton 62: 141-156, 2005. Note: Erratum: Cell Motil. Cytoskeleton 62: 259 only, 2005. [PubMed]: 16206169.

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