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Protein

DnaJ homolog subfamily B member 12

Gene

DNAJB12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a co-chaperone with HSPA8/Hsc70; required to promote protein folding and trafficking, prevent aggregation of client proteins, and promote unfolded proteins to endoplasmic reticulum-associated degradation (ERAD) pathway (PubMed:21150129, PubMed:21148293). Acts by determining HSPA8/Hsc70's ATPase and polypeptide-binding activities. Can also act independently of HSPA8/Hsc70: together with DNAJB14, acts as a chaperone that promotes maturation of potassium channels KCND2 and KCNH2 by stabilizing nascent channel subunits and assembling them into tetramers (PubMed:27916661). While stabilization of nascent channel proteins is dependent on HSPA8/Hsc70, the process of oligomerization of channel subunits is independent of HSPA8/Hsc70 (PubMed:27916661). When overexpressed, forms membranous structures together with DNAJB14 and HSPA8/Hsc70 within the nucleus; the role of these structures, named DJANGOs, is still unclear (PubMed:24732912).4 Publications
(Microbial infection) In case of infection by polyomavirus, involved in the virus endoplasmic reticulum membrane penetration and infection (PubMed:21673190, PubMed:24675744).2 Publications

GO - Molecular functioni

  • Hsp70 protein binding Source: UniProtKB

GO - Biological processi

  • cellular protein complex assembly Source: UniProtKB
  • cellular response to misfolded protein Source: UniProtKB
  • chaperone cofactor-dependent protein refolding Source: UniProtKB
  • chaperone mediated protein folding requiring cofactor Source: UniProtKB
  • ERAD pathway Source: UniProtKB

Keywordsi

Molecular functionChaperone

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily B member 12Imported
Gene namesi
Name:DNAJB12Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:14891. DNAJB12.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 243Cytoplasmic2 PublicationsAdd BLAST243
Transmembranei244 – 264HelicalSequence analysisAdd BLAST21
Topological domaini265 – 375Lumenal2 PublicationsAdd BLAST111

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • integral component of endoplasmic reticulum membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • nuclear membrane Source: UniProtKB-SubCell

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi138H → Q: Abolishes interaction with HSPA8/Hsc70. 3 Publications1
Mutagenesisi184 – 212Missing in delta(G/F); impaired ability to form tetramers and impaired ability to promote potassium channel assembly into tetramers. 1 PublicationAdd BLAST29

Organism-specific databases

DisGeNETi54788.
PharmGKBiPA27414.

Polymorphism and mutation databases

BioMutaiDNAJB12.
DMDMi294862531.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000710371 – 375DnaJ homolog subfamily B member 12Add BLAST375

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9NXW2.
MaxQBiQ9NXW2.
PaxDbiQ9NXW2.
PeptideAtlasiQ9NXW2.
PRIDEiQ9NXW2.

PTM databases

iPTMnetiQ9NXW2.
PhosphoSitePlusiQ9NXW2.

Expressioni

Gene expression databases

BgeeiENSG00000148719.
CleanExiHS_DNAJB12.
ExpressionAtlasiQ9NXW2. baseline and differential.
GenevisibleiQ9NXW2. HS.

Organism-specific databases

HPAiHPA010642.

Interactioni

Subunit structurei

Homodimer and homotetramer (PubMed:27916661). Interacts (via J domain) with HSPA8/Hsc70 (PubMed:21150129, PubMed:21148293, PubMed:24732912, PubMed:27916661). Forms a multiprotein complex, at least composed of DNAJB12, DNAJB14, HSPA8/Hsc70 and SGTA; interaction with DNAJB14 and HSPA8/Hsc70 is direct (PubMed:24675744).5 Publications

GO - Molecular functioni

  • Hsp70 protein binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120150. 12 interactors.
IntActiQ9NXW2. 13 interactors.
MINTiMINT-1145606.
STRINGi9606.ENSP00000345575.

Structurei

Secondary structure

1375
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi111 – 115Combined sources5
Helixi123 – 134Combined sources12
Turni139 – 141Combined sources3
Helixi145 – 161Combined sources17
Helixi164 – 172Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CTPNMR-A110-174[»]
ProteinModelPortaliQ9NXW2.
SMRiQ9NXW2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NXW2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 176JPROSITE-ProRule annotationAdd BLAST65

Sequence similaritiesi

Belongs to the DnaJ family. DNAJB12/DNAJB14 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0714. Eukaryota.
COG0484. LUCA.
HOGENOMiHOG000233608.
HOVERGENiHBG051373.
InParanoidiQ9NXW2.
KOiK09518.
PhylomeDBiQ9NXW2.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiView protein in InterPro
IPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
IPR015399. DUF1977_DnaJ-like.
PfamiView protein in Pfam
PF00226. DnaJ. 1 hit.
PF09320. DUF1977. 1 hit.
PRINTSiPR00625. JDOMAIN.
SMARTiView protein in SMART
SM00271. DnaJ. 1 hit.
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiView protein in PROSITE
PS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NXW2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESNKDEAER CISIALKAIQ SNQPDRALRF LEKAQRLYPT PRVRALIESL
60 70 80 90 100
NQKPQTAGDQ PPPTDTTHAT HRKAGGTDAP SANGEAGGES TKGYTAEQVA
110 120 130 140 150
AVKRVKQCKD YYEILGVSRG ASDEDLKKAY RRLALKFHPD KNHAPGATEA
160 170 180 190 200
FKAIGTAYAV LSNPEKRKQY DQFGDDKSQA ARHGHGHGDF HRGFEADISP
210 220 230 240 250
EDLFNMFFGG GFPSSNVHVY SNGRMRYTYQ QRQDRRDNQG DGGLGVFVQL
260 270 280 290 300
MPILILILVS ALSQLMVSSP PYSLSPRPSV GHIHRRVTDH LGVVYYVGDT
310 320 330 340 350
FSEEYTGSSL KTVERNVEDD YIANLRNNCW KEKQQSEGLL YRARYFGDTD
360 370
MYHRAQKMGT PSCSRLSEVQ ASLHG
Length:375
Mass (Da):41,819
Last modified:April 20, 2010 - v4
Checksum:i27893FF3E22EF778
GO
Isoform 2 (identifier: Q9NXW2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     369-375: VQASLHG → TMKSLENFW

Show »
Length:377
Mass (Da):42,263
Checksum:i80AF0BB3CFF3ECDE
GO

Sequence cautioni

The sequence BAB15289 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAH13619 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70T → S in BAA90896 (PubMed:14702039).Curated1
Sequence conflicti212F → S in BAA90896 (PubMed:14702039).Curated1
Sequence conflicti215S → G in BAH13619 (PubMed:14702039).Curated1
Sequence conflicti336S → K in BAA90896 (PubMed:14702039).Curated1
Sequence conflicti336S → K in BAB15289 (PubMed:14702039).Curated1
Sequence conflicti336S → K in BAH13619 (PubMed:14702039).Curated1
Sequence conflicti336S → K in AAH11812 (PubMed:15164054).Curated1
Sequence conflicti336S → K in AAH64920 (PubMed:15164054).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017864304E → K. Corresponds to variant dbSNP:rs3750784Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039040369 – 375VQASLHG → TMKSLENFW in isoform 2. 1 Publication7

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000034 mRNA. Translation: BAA90896.1.
AK025942 mRNA. Translation: BAB15289.1. Different initiation.
AK302071 mRNA. Translation: BAH13619.1. Different initiation.
AC091769 Genomic DNA. No translation available.
BC011812 mRNA. Translation: AAH11812.2.
BC064920 mRNA. Translation: AAH64920.1.
RefSeqiNP_001002762.2. NM_001002762.2.
NP_060096.3. NM_017626.4.
UniGeneiHs.500013.

Genome annotation databases

EnsembliENST00000444643; ENSP00000403313; ENSG00000148719.
GeneIDi54788.
KEGGihsa:54788.
UCSCiuc057tyc.1. human. [Q9NXW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDJB12_HUMAN
AccessioniPrimary (citable) accession number: Q9NXW2
Secondary accession number(s): B7Z7I3, Q9H6H0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: April 20, 2010
Last modified: August 30, 2017
This is version 149 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families