ACTL7A

ACTL7A
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2XQN
Identifikatori
Aliasi	ACTL7A
Vanjski ID-jevi	OMIM: 604303 MGI: 1343051 HomoloGene: 7613 GeneCards: ACTL7A
Lokacija gena (čovjek)
Hrom.	Hromosom 9 (čovjek)
Kraj	108,863,756 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	56,744,925 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• structural constituent of cytoskeleton; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citoplazma; • male germ cell nucleus; • Golđijev aparat; • motile cilium; • citoskelet; • jedro; • GO:0009327 makromolekulani kompleks;
Biološki proces	• cytoskeleton organization;
	Izvori:Amigo / QuickGO
Ortolozi
	10881
	11470
	ENSG00000187003
	ENSMUSG00000070979
	Q9Y615
	Q9QY84
	NM_006687
	NM_009611
	NP_006678
	NP_033741
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Aktinoliki protein 7A je protein koji je kod ljudi kodiran genom ACTL7A.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 435 aminokiselina, а molekulska težina 48.644 Da.^[7]

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
MWAPPAAIMG	DGPTKKVGNQ	APLQTQALQT	ASLRDGPAKR	AVWVRHTSSE
PQEPTESKAA	KERPKQEVTK	AVVVDLGTGY	CKCGFAGLPR	PTHKISTTVG
KPYMETAKTG	DNRKETFVGQ	ELNNTNVHLK	LVNPLRHGII	VDWDTVQDIW
EYLFRQEMKI	APEEHAVLVS	DPPLSPHTNR	EKYAEMLFEA	FNTPAMHIAY
QSRLSMYSYG	RTSGLVVEVG	HGVSYVVPIY	EGYPLPSITG	RLDYAGSDLT
AYLLGLLNSA	GNEFTQDQMG	IVEDIKKKCC	FVALDPIEEK	KVPLSEHTIR
YVLPDGKEIQ	LCQERFLCSE	MFFKPSLIKS	MQLGLHTQTV	SCLNKCDIAL
KRDLMGNILL	CGGSTMLSGF	PNRLQKELSS	MCPNDTPQVN	VLPERDSAVW
TGGSILASLQ	GFQPLWVHRF	EYEEHGPFFL	YRRCF

Funkcija

Protein kodiran ovim genom član je porodice proteina povezanih sa aktinom (ARP) koji dijele značajan identitet aminokiselina u sekvenci sa konvencijskim aktinima. I aktini i ARP-i imaju aktinsko savijanje, rascjep koji veže ATP, kao zajedničko obilježje. ARP -ovi su uključeni u različite ćelijske procese, uključujući vezikulski transport, orijentaciju vretena, migracije jedra i remodeliranje hromatina. Ovaj gen (ACTL7A) i srodni gen, ACTL7B, su manji introni i nalaze se približno četiri kb međusobno udaljeni u orijentaciji licem u glavu, unutar porodična disautonomne kandidatske regijae na poziciji 9q31. Na temelju mutacijske analize gena ACTL7A u pacijenata s ovim poremećajem, zaključeno je da je malo vjerovatno da će biti uključen u patogenezu disautonomije. Gen ACTL7A eksprimiran je u velikom broju tkiva) odraslih, ali njegova tačna funkcija nije poznata.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000187003 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000070979 - 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.
^ Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA (Jul 1999). "Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31". Genomics. 58 (3): 302–9. doi:10.1006/geno.1999.5848. PMID 10373328.
^ ^a ^b "Entrez Gene: ACTL7A actin-like 7A".
^ "UniProt, Q9Y615". Pristupljeno 5. 9. 2021.

Dopunska literatura

Schafer DA, Schroer TA (2000). "Actin-related proteins". Annu. Rev. Cell Dev. Biol. 15: 341–63. doi:10.1146/annurev.cellbio.15.1.341. PMID 10611965.
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. Bibcode:2005Natur.437.1173R. 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.
Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
Garvalov BK, Higgins TE, Sutherland JD, et al. (2003). "The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions". J. Cell Biol. 161 (1): 33–9. doi:10.1083/jcb.200211015. PMC 2172870. PMID 12695497.
Coutts AS, MacKenzie E, Griffith E, Black DM (2003). "TES is a novel focal adhesion protein with a role in cell spreading". J. Cell Sci. 116 (Pt 5): 897–906. doi:10.1242/jcs.00278. PMID 12571287.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.

Vanjski linkovi

Lokacija ljudskog genoma ACTL7A i stranica sa detaljima o genu ACTL7A u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000187003 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000070979 - 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.

[pmid10373328-5] Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA (Jul 1999). "Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31". Genomics. 58 (3): 302–9. doi:10.1006/geno.1999.5848. PMID 10373328.

[entrez-6] "Entrez Gene: ACTL7A actin-like 7A".

[UniProt-7] "UniProt, Q9Y615". Pristupljeno 5. 9. 2021.

[5]

[6]

[1]

[2]

[3]

[4]

[7]