PPHLN1

Perifilin-1 je protein koji je kod ljudi kodiran genom PPHLN1.

PPHLN1
Identifikatori
Aliasi	PPHLN1
Vanjski ID-jevi	OMIM: 608150 MGI: 1917029 HomoloGene: 9533 GeneCards: PPHLN1
Lokacija gena (čovjek) Hrom. Hromosom 12 (čovjek) Bend 12q12 Početak 42,238,447 bp Kraj 42,459,715 bp
Lokacija gena (miš) Hrom. Hromosom 15 (miš) Bend 15|15 E3 Početak 93,296,231 bp Kraj 93,389,391 bp
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje sa RNK Ćelijska komponenta • Golđijev aparat • jedro • nukleoplazma • hromosom • citoplazma • citosol Biološki proces • keratinization • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • negative regulation of gene expression, epigenetic • GO:0045996 negative regulation of transcription, DNA-templated • positive regulation of DNA methylation-dependent heterochromatin assembly • protein localization to heterochromatin Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	51535	223828
Ensembl	ENSG00000134283	ENSMUSG00000036167
UniProt	Q8NEY8	Q8K2H1
RefSeq (mRNK)	NM_001143787 NM_001143788 NM_001143789 NM_016488 NM_201438 NM_201439 NM_201440 NM_201515 NM_001364822 NM_001364823 NM_001364824 NM_001364825 NM_001364826 NM_001364827 NM_001364828 NM_001364829 NM_001364830 NM_001364831 NM_001364832 NM_001364833 NM_001364834	NM_001083114 NM_001285863 NM_001285864 NM_146062 NM_175363 NM_001358748 NM_001358749 NM_001358750
RefSeq (bjelančevina)	NP_001137259 NP_001137260 NP_001137261 NP_057572 NP_958846 NP_958847 NP_958848 NP_958923 NP_001351751 NP_001351752 NP_001351753 NP_001351754 NP_001351755 NP_001351756 NP_001351757 NP_001351758 NP_001351759 NP_001351760 NP_001351761 NP_001351762 NP_001351763	NP_001076583 NP_001272792 NP_001272793 NP_666174 NP_780572 NP_001345677 NP_001345678 NP_001345679
Lokacija (UCSC)	Chr 12: 42.24 – 42.46 Mb	Chr 15: 93.3 – 93.39 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Protein kodiran ovim genom jedan je od nekoliko proteina koji se sekventno ugrađuju u stvrdnutu čelijsku ovojnicu tokom terminalne diferencijacije keratinocita u vanjskim slojevima epiderme.

Ovaj protein stupa u interakciju sa periplakinom, koji je poznat kao prekursor omotača rožnatih ćelija. Obrazac ćelijske lokalizacije i nerastvorljivost ovog proteina sugeriraju da on može imati ulogu u diferencijaciji epitela i pridonijeti njegovom integritetu i formiranju barijere. Uočeno je više alternativno prerađenih varijanti transkripta koje kodiraju različite izoforme.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 458 aminokiselina, a molekulska težina 52.737 Da.

10		20		30		40		50
MWSEGRYEYE		RIPRERAPPR		SHPSDGYNRL		VNIVPKKPPL		LDRPGEGSYN
RYYSHVDYRD		YDEGRSFSHD		RRSGPPHRGD		ESGYRWTRDD		HSASRQPEYR
DMRDGFRRKS		FYSSHYARER		SPYKRDNTFF		RESPVGRKDS		PHSRSGSSVS
SRSYSPERSK		SYSFHQSQHR		KSVRPGASYK		RQNEGNPERD		KERPVQSLKT
SRDTSPSSGS		AVSSSKVLDK		PSRLTEKELA		EAASKWAAEK		LEKSDESNLP
EISEYEAGST		APLFTDQPEE		PESNTTHGIE		LFEDSQLTTR		SKAIASKTKE
IEQVYRQDCE		TFGMVVKMLI		EKDPSLEKSI		QFALRQNLHE		IESAGQTWQQ
VPPVRNTEMD		HDGTPENEGE		ETAQSAPQPP		QAPQPLQPRK		KRVRRTTQLR
RTTGAPDITW		GMLKKTTQEA		ERILLRTQTP		FTPENLFLAM		LSVVHCNSRK
DVKPENKQ

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

Dopunska literatura

• Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
• Linē A, Stengrēvics A, Slucka Z, et al. (2002). "Serological identification and expression analysis of gastric cancer-associated genes". Br. J. Cancer. 86 (11): 1824–30. doi:10.1038/sj.bjc.6600321. PMC 2375403. PMID 12087473.
• Kazerounian S, Uitto J, Aho S (2003). "Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin". Exp. Dermatol. 11 (5): 428–38. doi:10.1034/j.1600-0625.2002.110506.x. PMID 12366696. S2CID 25735126.
• 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.
• Kazerounian S, Aho S (2003). "Characterization of periphilin, a widespread, highly insoluble nuclear protein and potential constituent of the keratinocyte cornified envelope". J. Biol. Chem. 278 (38): 36707–17. doi:10.1074/jbc.M303896200. PMID 12853457.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Goehler H, Lalowski M, Stelzl U, et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
• Kurita M, Suzuki H, Masai H, et al. (2004). "Overexpression of CR/periphilin downregulates Cdc7 expression and induces S-phase arrest". Biochem. Biophys. Res. Commun. 324 (2): 554–61. doi:10.1016/j.bbrc.2004.09.083. PMID 15474462.
• 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.
• Mizrachi-Koren M, Geiger D, Indelman M, et al. (2005). "Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13". J. Invest. Dermatol. 125 (3): 456–62. doi:10.1111/j.0022-202X.2005.23777.x. PMID 16117785.
• Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.