NEFH

NEFH
Identifikatori
Aliasi	NEFH
Vanjski ID-jevi	OMIM: 162230 MGI: 97309 HomoloGene: 40755 GeneCards: NEFH
Lokacija gena (čovjek)
Hrom.	Hromosom 22 (čovjek)
Kraj	29,491,390 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	4,898,064 bp
Ontologija gena
Molekularna funkcija	• protein-macromolecule adaptor activity; • microtubule binding; • structural molecule activity; • structural constituent of cytoskeleton; • kinesin binding; • protein kinase binding; • dynein complex binding; • structural constituent of postsynaptic intermediate filament cytoskeleton;
Ćelijska komponenta	• neurofilament; • neurofibrillary tangle; • myelin sheath; • Akson; • mitohondrija; • Intermedijarni filament; • citoplazma; • GO:0097483, GO:0097481 postsynaptic density; • citoskelet; • Schaffer collateral - CA1 synapse; • postsynaptic intermediate filament cytoskeleton;
Biološki proces	• axon development; • intermediate filament bundle assembly; • axonogenesis; • neurofilament bundle assembly; • cell projection assembly; • regulation of organelle transport along microtubule; • intermediate filament cytoskeleton organization; • peripheral nervous system neuron axonogenesis; • neurofilament cytoskeleton organization; • microtubule cytoskeleton organization; • cellular response to leukemia inhibitory factor; • postsynaptic intermediate filament cytoskeleton organization;
	Izvori:Amigo / QuickGO
Ortolozi
	4744
	380684
	ENSG00000100285
	ENSMUSG00000020396
	P12036
	P19246
	NM_021076
	NM_010904
	NP_066554
	NP_035034
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Teški polipeptidni neurofilament jest protein koji je kod ljudi kodiran genom NEFH sa hromosoma 22.

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 1.026 aminokiselina, a molekulska težina 112.479 Da.

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
MMSFGGADAL	LGAPFAPLHG	GGSLHYALAR	KGGAGGTRSA	AGSSSGFHSW
TRTSVSSVSA	SPSRFRGAGA	ASSTDSLDTL	SNGPEGCMVA	VATSRSEKEQ
LQALNDRFAG	YIDKVRQLEA	HNRSLEGEAA	ALRQQQAGRS	AMGELYEREV
REMRGAVLRL	GAARGQLRLE	QEHLLEDIAH	VRQRLDDEAR	QREEAEAAAR
ALARFAQEAE	AARVDLQKKA	QALQEECGYL	RRHHQEEVGE	LLGQIQGSGA
AQAQMQAETR	DALKCDVTSA	LREIRAQLEG	HAVQSTLQSE	EWFRVRLDRL
SEAAKVNTDA	MRSAQEEITE	YRRQLQARTT	ELEALKSTKD	SLERQRSELE
DRHQADIASY	QEAIQQLDAE	LRNTKWEMAA	QLREYQDLLN	VKMALDIEIA
AYRKLLEGEE	CRIGFGPIPF	SLPEGLPKIP	SVSTHIKVKS	EEKIKVVEKS
EKETVIVEEQ	TEETQVTEEV	TEEEEKEAKE	EEGKEEEGGE	EEEAEGGEEE
TKSPPAEEAA	SPEKEAKSPV	KEEAKSPAEA	KSPEKEEAKS	PAEVKSPEKA
KSPAKEEAKS	PPEAKSPEKE	EAKSPAEVKS	PEKAKSPAKE	EAKSPAEAKS
PEKAKSPVKE	EAKSPAEAKS	PVKEEAKSPA	EVKSPEKAKS	PTKEEAKSPE
KAKSPEKAKS	PEKEEAKSPE	KAKSPVKAEA	KSPEKAKSPV	KAEAKSPEKA
KSPVKEEAKS	PEKAKSPVKE	EAKSPEKAKS	PVKEEAKTPE	KAKSPVKEEA
KSPEKAKSPE	KAKTLDVKSP	EAKTPAKEEA	RSPADKFPEK	AKSPVKEEVK
SPEKAKSPLK	EDAKAPEKEI	PKKEEVKSPV	KEEEKPQEVK	VKEPPKKAEE
EKAPATPKTE	EKKDSKKEEA	PKKEAPKPKV	EEKKEPAVEK	PKESKVEAKK
EEAEDKKKVP	TPEKEAPAKV	EVKEDAKPKE	KTEVAKKEPD	DAKAKEPSKP
AEKKEAAPEK	KDTKEEKAKK	PEEKPKTEAK	AKEDDKTLSK	EPSKPKAEKA
EKSSSTDQKD	SKPPEKATED	KAAKGK

Funkcija[uredi | uredi izvor]

NEFH je gen za tešku proteinsku podjedinicu koja se kombinuje sa srednjim i lahkim podjedinicama za stvaranje neurofilamenata, koji čine okvir za nervne ćelije.^[5]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000100285 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020396 - 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.
^ "Arhivirana kopija". Arhivirano s originala, 27. 8. 2011. Pristupljeno 11. 2. 2022.CS1 održavanje: arhivirana kopija u naslovu (link)

Vanjski linkovi[uredi | uredi izvor]

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000100285 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000020396 - 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] "Arhivirana kopija". Arhivirano s originala, 27. 8. 2011. Pristupljeno 11. 2. 2022.CS1 održavanje: arhivirana kopija u naslovu (link)

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