DNAJC12

DNAJC12
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2CTQ
Identifikatori
Aliasi	DNAJC12
Vanjski ID-jevi	OMIM: 606060 MGI: 1353428 HomoloGene: 8492 GeneCards: DNAJC12
Lokacija gena (čovjek)
Hrom.	Hromosom 10 (čovjek)
Kraj	67,838,188 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	63,246,355 bp
Ortolozi
	56521
	30045
	ENSG00000108176
	ENSMUSG00000036764
	Q9UKB3
	Q9R022
	NM_021800; NM_201262
	NM_001253685; NM_013888
	NP_068572; NP_957714
	NP_001240614; NP_038916
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Član C12 porodice DnaJ proteina toplotnog šoka jest protein koji je kod ljudi kodiran genom DNAJC12.^[5]

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 198 aminokiselina, а molekulska težina 23.415^[6]

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
MDAILNYRSE	DTEDYYTLLG	CDELSSVEQI	LAEFKVRALE	CHPDKHPENP
KAVETFQKLQ	KAKEILTNEE	SRARYDHWRR	SQMSMPFQQW	EALNDSVKTS
MHWVVRGKKD	LMLEESDKTH	TTKMENEECN	EQRERKKEEL	ASTAEKTEQK
EPKPLEKSVS	PQNSDSSGFA	DVNGWHLRFR	WSKDAPSELL	RKFRNYEI

Funkcija[uredi | uredi izvor]

Ovaj gen kodira člana podklase proteinske porodice HSP40/DnaJ. Članovi ove porodice proteina povezani su sa složenim sastavljanjem, savijanjem i eksportom proteina. Za ovaj gen su identificirane dvije varijante transkripta koje kodiraju različite izoforme.

Patologija[uredi | uredi izvor]

Mutacije gena uzrokuju blagu hiperfenilalaninemiju s nedostatkom BH4 (HPANBH4), koja se naziva i "hiperfenilalaninemija s nedostatkom DNK12" ili "nedostatak DNK12"

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108176 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000036764 - 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.
^ "Entrez Gene: DnaJ heat shock protein family (Hsp40) member C12". Pristupljeno 22. 2. 2016.
^ "UniProt, Q9UKB3". Pristupljeno 1. 9. 2021.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108176 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036764 - 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.

[entrez-5] "Entrez Gene: DnaJ heat shock protein family (Hsp40) member C12". Pristupljeno 22. 2. 2016.

[UniProt-6] "UniProt, Q9UKB3". Pristupljeno 1. 9. 2021.

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