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

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

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

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

Reference

^ ^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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