DNAJC12

DNAJC12
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

2CTQ

Identifikatori
AliasiDNAJC12
Vanjski ID-jeviOMIM: 606060 MGI: 1353428 HomoloGene: 8492 GeneCards: DNAJC12
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za DNAJC12
Genomska lokacija za DNAJC12
Bend10q21.3Početak67,796,669 bp[1]
Kraj67,838,188 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za DNAJC12
Genomska lokacija za DNAJC12
Bend10|10 B4Početak63,218,222 bp[2]
Kraj63,246,355 bp[2]
Ortolozi
VrsteČovjekMiš
Entrez

56521

30045

Ensembl

ENSG00000108176

ENSMUSG00000036764

UniProt

Q9UKB3

Q9R022

RefSeq (mRNK)

NM_021800
NM_201262

NM_001253685
NM_013888

RefSeq (bjelančevina)

NP_068572
NP_957714

NP_001240614
NP_038916

Lokacija (UCSC)Chr 10: 67.8 – 67.84 MbChr 10: 63.22 – 63.25 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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]

1020304050
MDAILNYRSEDTEDYYTLLGCDELSSVEQILAEFKVRALECHPDKHPENP
KAVETFQKLQKAKEILTNEESRARYDHWRRSQMSMPFQQWEALNDSVKTS
MHWVVRGKKDLMLEESDKTHTTKMENEECNEQRERKKEELASTAEKTEQK
EPKPLEKSVSPQNSDSSGFADVNGWHLRFRWSKDAPSELLRKFRNYEI

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

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

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